Zhenglin Yang

Zhenglin Yang

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Zhenglin Yang

Publications by authors named "Zhenglin Yang"

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Enzyme-Mediated Endogenous and Bioorthogonal Control of a DNAzyme Fluorescent Sensor for Imaging Metal Ions in Living Cells.

Angew Chem Int Ed Engl 2019 Nov 15;58(47):17061-17067. Epub 2019 Oct 15.

Department of Chemistry, Department of Biochemistry, University of Illinois at Urbana-Champaign, Urbana, Illinois, 61801, USA.

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http://dx.doi.org/10.1002/anie.201910343DOI Listing
November 2019

Zebra leaf 15, a receptor-like protein kinase involved in moderate low temperature signaling pathway in rice.

Rice (N Y) 2019 Nov 15;12(1):83. Epub 2019 Nov 15.

Rice Research Institute, Key Laboratory of Application and Safety Control of Genetically Modified Crops, Academy of Agricultural Sciences, Southwest University, Chongqing, 400715, China.

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http://dx.doi.org/10.1186/s12284-019-0339-1DOI Listing
November 2019

Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis.

Genet Med 2019 10 19;21(10):2345-2354. Epub 2019 Apr 19.

The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.

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http://www.nature.com/articles/s41436-019-0507-0
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http://dx.doi.org/10.1038/s41436-019-0507-0DOI Listing
October 2019

Whole-Exome Sequencing Analysis Identified Novel Mutations in the Gene in Chinese Families with Familial Exudative Vitreoretinopathy.

Genet Test Mol Biomarkers 2019 Oct 12;23(10):722-727. Epub 2019 Sep 12.

College of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu, China.

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http://dx.doi.org/10.1089/gtmb.2019.0049DOI Listing
October 2019

Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft.

PLoS Genet 2019 Oct 14;15(10):e1008357. Epub 2019 Oct 14.

The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Clinical Laboratory, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.

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http://dx.doi.org/10.1371/journal.pgen.1008357DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6812857PMC
October 2019

Evaluation of as a candidate gene for high myopia in a Han Chinese population.

Eye Vis (Lond) 2019 30;6:33. Epub 2019 Oct 30.

Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Clinical Laboratory, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, 32 the First Ring Road West 2, Chengdu, 610072 Sichuan China.

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http://dx.doi.org/10.1186/s40662-019-0158-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820952PMC
October 2019

A fetal mouse model of ventricular non-compaction using retinoic acid.

Pathol Res Pract 2019 Aug 10;215(8):152496. Epub 2019 Jun 10.

School of Medicine, University of Electronic Science and Technology of China, Chengdu 610054, China; Sichuan Provincial Key Laboratory for Ultrasound in Cardiac Electrophysiology and Biomechanics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu 610072, China. Electronic address:

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http://dx.doi.org/10.1016/j.prp.2019.152496DOI Listing
August 2019

Association between sheath blight resistance and chitinase activity in transgenic rice plants expressing McCHIT1 from bitter melon.

Transgenic Res 2019 08 18;28(3-4):381-390. Epub 2019 Jun 18.

Rice Research Institute, Key Laboratory of Application and Safety Control of Genetically Modified Crops, Academy of Agricultural Sciences, Southwest University, Chongqing, 400715, China.

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http://dx.doi.org/10.1007/s11248-019-00158-xDOI Listing
August 2019

Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy.

Genet Med 2019 Jul 5. Epub 2019 Jul 5.

Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.

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http://dx.doi.org/10.1038/s41436-019-0571-5DOI Listing
July 2019

[Analysis of MYOC gene variants among sporadic patients with primary open-angle glaucoma].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Jul;36(7):662-665

School of Clinical Medicine, Southwest Medical University, Luzhou, Sichuan 646000, China.

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.07.002DOI Listing
July 2019

A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis.

BMC Med Genet 2019 06 19;20(1):111. Epub 2019 Jun 19.

Renal Department and Institute of Nephrology, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, No. 32, West 2nd Duan, 1st Circle Road, Qingyang District, Chengdu, Sichuan, 610072, People's Republic of China.

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http://dx.doi.org/10.1186/s12881-019-0845-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6585123PMC
June 2019

A Case of Hyaluronic Acid Induced Blindness With Ophthalmoplegia and Ptosis.

Ophthalmic Plast Reconstr Surg 2018 Nov/Dec;34(6):e184-e186

Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, P.R. of China.

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http://Insights.ovid.com/crossref?an=00002341-900000000-9841
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http://dx.doi.org/10.1097/IOP.0000000000001234DOI Listing
May 2019

Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families.

Mol Genet Genomic Med 2019 04 5;7(4):e00594. Epub 2019 Mar 5.

Sichuan Provincial Key Laboratory for Disease Gene Study and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.

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http://dx.doi.org/10.1002/mgg3.594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465674PMC
April 2019

Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population.

Sci China Life Sci 2019 Feb 24;62(2):153-164. Epub 2018 Dec 24.

The Key Laboratory for Human Disease Gene Study of Sichuan Province, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 610072, China.

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http://link.springer.com/10.1007/s11427-018-9430-2
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http://dx.doi.org/10.1007/s11427-018-9430-2DOI Listing
February 2019

Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa.

Hum Mol Genet 2018 12;27(23):4157-4168

Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.

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http://dx.doi.org/10.1093/hmg/ddy281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240732PMC
December 2018

Optical Control of Metal Ion Probes in Cells and Zebrafish Using Highly Selective DNAzymes Conjugated to Upconversion Nanoparticles.

J Am Chem Soc 2018 12 4;140(50):17656-17665. Epub 2018 Dec 4.

Institute of Chemical Biology and Nanomedicine, College of Chemistry and Chemical Engineering , Hunan University , Changsha , Hunan 410082 , China.

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http://dx.doi.org/10.1021/jacs.8b09867DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6473182PMC
December 2018

Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population.

Eye (Lond) 2018 10 13;32(10):1608-1614. Epub 2018 Jun 13.

Sichuan Provincial Key Laboratory for Human Disease Gene Study and the Department of Laboratory Medicine and School of Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, 32 the First Ring Road West 2, Chengdu, Sichuan, 610072, China.

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http://www.nature.com/articles/s41433-018-0130-3
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http://dx.doi.org/10.1038/s41433-018-0130-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189035PMC
October 2018

Association of coding and UTR variants in the known regions with wet age-related macular degeneration in Han Chinese population.

J Hum Genet 2018 Oct 19;63(10):1055-1070. Epub 2018 Jul 19.

Sichuan Provincial Key Laboratory for Human Disease Gene Study and the Department of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.

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http://dx.doi.org/10.1038/s10038-018-0490-3DOI Listing
October 2018

VIRESCENT-ALBINO LEAF 1 regulates leaf colour development and cell division in rice.

J Exp Bot 2018 09;69(20):4791-4804

Rice Research Institute, Key Laboratory of Application and Safety Control of Genetically Modified Crops, Academy of Agricultural Sciences, Southwest University, Chongqing, China.

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http://dx.doi.org/10.1093/jxb/ery250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6137968PMC
September 2018

Autologous Fat Graft for the Treatment of Sighted Posttraumatic Enophthalmos and Sunken Upper Eyelid.

Ophthalmic Plast Reconstr Surg 2018 Jul/Aug;34(4):381-386

Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu City, Sichuan Province 610072, People's Republic of China.

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http://Insights.ovid.com/crossref?an=00002341-900000000-9854
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http://dx.doi.org/10.1097/IOP.0000000000001028DOI Listing
August 2018

Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family.

Ophthalmic Genet 2018 08 25;39(4):487-491. Epub 2018 Apr 25.

a Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , Sichuan , China.

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http://dx.doi.org/10.1080/13816810.2018.1461912DOI Listing
August 2018

A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia.

Ophthalmic Genet 2018 08 14;39(4):428-436. Epub 2018 Jun 14.

a Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , China.

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http://dx.doi.org/10.1080/13816810.2018.1466336DOI Listing
August 2018

A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa.

Hum Mol Genet 2018 07;27(14):2563-2572

Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.

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http://dx.doi.org/10.1093/hmg/ddy165DOI Listing
July 2018

A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa.

Hum Mol Genet 2018 07;27(14):2587

Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China.

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http://dx.doi.org/10.1093/hmg/ddy228DOI Listing
July 2018

Genetic Association Study Between the COL11A1 and COL18A1 Genes and High Myopia in a Han Chinese Population.

Genet Test Mol Biomarkers 2018 Jun 21;22(6):359-365. Epub 2018 May 21.

1 Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China , Chengdu, China .

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http://dx.doi.org/10.1089/gtmb.2017.0235DOI Listing
June 2018

[Mutation analysis of FBN1 gene in a child with Marfan syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Jun;35(3):414-417

School of Clinic Medicine, Southwest Medical University, Luzhou, Sichuan 646000, China.

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.03.024DOI Listing
June 2018

Update on the application of optic nerve sheath fenestration.

Restor Neurol Neurosci 2017 ;35(3):275-286

Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu City, Sichuan Province, China.

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http://dx.doi.org/10.3233/rnn-160693DOI Listing
March 2018

Association of catalase polymorphisms with primary open-angle glaucoma in a Chinese population.

Ophthalmic Genet 2018 Jan-Feb;39(1):35-40. Epub 2017 Aug 22.

a Sichuan Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital , University of Electronic Science and Technology of China , Chengdu , China.

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http://dx.doi.org/10.1080/13816810.2017.1342132DOI Listing
March 2018

Mutation of the OsSAC1 Gene, which Encodes an Endoplasmic Reticulum Protein with an Unknown Function, Causes Sugar Accumulation in Rice Leaves.

Plant Cell Physiol 2018 Mar;59(3):487-499

Key Laboratory of Application and Safety Control of Genetically Modified Crops, Rice Research Institute of Southwest University, Chongqing 400716, China.

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http://dx.doi.org/10.1093/pcp/pcx203DOI Listing
March 2018

Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa.

Genet Test Mol Biomarkers 2018 Mar 13;22(3):165-169. Epub 2018 Feb 13.

1 Chengdu Institute of Biology , Chinese Academy of Sciences, Chengdu, China .

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http://dx.doi.org/10.1089/gtmb.2017.0248DOI Listing
March 2018

Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa.

Genet Test Mol Biomarkers 2018 Feb;22(2):109-114

2 Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China , Chengdu, Sichuan, P.R. China .

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http://dx.doi.org/10.1089/gtmb.2017.0223DOI Listing
February 2018

Evaluation of genome-wide susceptibility loci for high myopia in a Han Chinese population.

Ophthalmic Genet 2017 Jul-Aug;38(4):330-334. Epub 2017 Jan 13.

a School of Medicine, University of Electronic Science and Technology of China , Chengdu , Sichuan , China.

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http://dx.doi.org/10.1080/13816810.2016.1227455DOI Listing
December 2017

Association of IGF1 and IGF1R gene polymorphisms with high myopia in a Han Chinese population.

Ophthalmic Genet 2017 Mar-Apr;38(2):122-126. Epub 2016 Apr 4.

b Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital , University of Electronic Science and Technology of China , Chengdu , Sichuan , China.

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http://dx.doi.org/10.3109/13816810.2016.1145699DOI Listing
November 2017

induced the three-florets spikelet in rice.

Proc Natl Acad Sci U S A 2017 09 28;114(37):9984-9989. Epub 2017 Aug 28.

Rice Research Institute, Key Laboratory of Application and Safety Control of Genetically Modified Crops, Academy of Agricultural Sciences, Southwest University, Chongqing 400715, China

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http://www.pnas.org/lookup/doi/10.1073/pnas.1700504114
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http://dx.doi.org/10.1073/pnas.1700504114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603995PMC
September 2017

A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility.

Am J Hum Genet 2017 Sep;101(3):459-465

Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250001, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan 250001, China; The Key Laboratory for Reproductive Endocrinology, Shandong University, Ministry of Education, Jinan 250001, China; Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200135, China; Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai 200135, China. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590947PMC
September 2017

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Authors:
Tin Aung Mineo Ozaki Mei Chin Lee Ursula Schlötzer-Schrehardt Gudmar Thorleifsson Takanori Mizoguchi Robert P Igo Aravind Haripriya Susan E Williams Yury S Astakhov Andrew C Orr Kathryn P Burdon Satoko Nakano Kazuhiko Mori Khaled Abu-Amero Michael Hauser Zheng Li Gopalakrishnan Prakadeeswari Jessica N Cooke Bailey Alina Popa Cherecheanu Jae H Kang Sarah Nelson Ken Hayashi Shin-Ichi Manabe Shigeyasu Kazama Tomasz Zarnowski Kenji Inoue Murat Irkec Miguel Coca-Prados Kazuhisa Sugiyama Irma Järvelä Patricio Schlottmann S Fabian Lerner Hasnaa Lamari Yildirim Nilgün Mukharram Bikbov Ki Ho Park Soon Cheol Cha Kenji Yamashiro Juan C Zenteno Jost B Jonas Rajesh S Kumar Shamira A Perera Anita S Y Chan Nino Kobakhidze Ronnie George Lingam Vijaya Tan Do Deepak P Edward Lourdes de Juan Marcos Mohammad Pakravan Sasan Moghimi Ryuichi Ideta Daniella Bach-Holm Per Kappelgaard Barbara Wirostko Samuel Thomas Daniel Gaston Karen Bedard Wenda L Greer Zhenglin Yang Xueyi Chen Lulin Huang Jinghong Sang Hongyan Jia Liyun Jia Chunyan Qiao Hui Zhang Xuyang Liu Bowen Zhao Ya-Xing Wang Liang Xu Stéphanie Leruez Pascal Reynier George Chichua Sergo Tabagari Steffen Uebe Matthias Zenkel Daniel Berner Georg Mossböck Nicole Weisschuh Ursula Hoja Ulrich-Christoph Welge-Luessen Christian Mardin Panayiota Founti Anthi Chatzikyriakidou Theofanis Pappas Eleftherios Anastasopoulos Alexandros Lambropoulos Arkasubhra Ghosh Rohit Shetty Natalia Porporato Vijayan Saravanan Rengaraj Venkatesh Chandrashekaran Shivkumar Narendran Kalpana Sripriya Sarangapani Mozhgan R Kanavi Afsaneh Naderi Beni Shahin Yazdani Alireza Lashay Homa Naderifar Nassim Khatibi Antonio Fea Carlo Lavia Laura Dallorto Teresa Rolle Paolo Frezzotti Daniela Paoli Erika Salvi Paolo Manunta Yosai Mori Kazunori Miyata Tomomi Higashide Etsuo Chihara Satoshi Ishiko Akitoshi Yoshida Masahide Yanagi Yoshiaki Kiuchi Tsutomu Ohashi Toshiya Sakurai Takako Sugimoto Hideki Chuman Makoto Aihara Masaru Inatani Masahiro Miyake Norimoto Gotoh Fumihiko Matsuda Nagahisa Yoshimura Yoko Ikeda Morio Ueno Chie Sotozono Jin Wook Jeoung Min Sagong Kyu Hyung Park Jeeyun Ahn Marisa Cruz-Aguilar Sidi M Ezzouhairi Abderrahman Rafei Yaan Fun Chong Xiao Yu Ng Shuang Ru Goh Yueming Chen Victor H K Yong Muhammad Imran Khan Olusola O Olawoye Adeyinka O Ashaye Idakwo Ugbede Adeola Onakoya Nkiru Kizor-Akaraiwe Chaiwat Teekhasaenee Yanin Suwan Wasu Supakontanasan Suhanya Okeke Nkechi J Uche Ifeoma Asimadu Humaira Ayub Farah Akhtar Ewa Kosior-Jarecka Urszula Lukasik Ignacio Lischinsky Vania Castro Rodolfo Perez Grossmann Gordana Sunaric Megevand Sylvain Roy Edward Dervan Eoin Silke Aparna Rao Priti Sahay Pablo Fornero Osvaldo Cuello Delia Sivori Tamara Zompa Richard A Mills Emmanuelle Souzeau Paul Mitchell Jie Jin Wang Alex W Hewitt Michael Coote Jonathan G Crowston Sergei Y Astakhov Eugeny L Akopov Anton Emelyanov Vera Vysochinskaya Gyulli Kazakbaeva Rinat Fayzrakhmanov Saleh A Al-Obeidan Ohoud Owaidhah Leyla Ali Aljasim Balram Chowbay Jia Nee Foo Raphael Q Soh Kar Seng Sim Zhicheng Xie Augustine W O Cheong Shi Qi Mok Hui Meng Soo Xiao Yin Chen Su Qin Peh Khai Koon Heng Rahat Husain Su-Ling Ho Axel M Hillmer Ching-Yu Cheng Francisco A Escudero-Domínguez Rogelio González-Sarmiento Frederico Martinon-Torres Antonio Salas Kessara Pathanapitoon Linda Hansapinyo Boonsong Wanichwecharugruang Naris Kitnarong Anavaj Sakuntabhai Hip X Nguyn Giang T T Nguyn Trình V Nguyn Werner Zenz Alexander Binder Daniela S Klobassa Martin L Hibberd Sonia Davila Stefan Herms Markus M Nöthen Susanne Moebus Robyn M Rautenbach Ari Ziskind Trevor R Carmichael Michele Ramsay Lydia Álvarez Montserrat García Héctor González-Iglesias Pedro P Rodríguez-Calvo Luis Fernández-Vega Cueto Çilingir Oguz Nevbahar Tamcelik Eray Atalay Bilge Batu Dilek Aktas Burcu Kasım M Roy Wilson Anne L Coleman Yutao Liu Pratap Challa Leon Herndon Rachel W Kuchtey John Kuchtey Karen Curtin Craig J Chaya Alan Crandall Linda M Zangwill Tien Yin Wong Masakazu Nakano Shigeru Kinoshita Anneke I den Hollander Eija Vesti John H Fingert Richard K Lee Arthur J Sit Bradford J Shingleton Ningli Wang Daniele Cusi Raheel Qamar Peter Kraft Margaret A Pericak-Vance Soumya Raychaudhuri Steffen Heegaard Tero Kivelä André Reis Friedrich E Kruse Robert N Weinreb Louis R Pasquale Jonathan L Haines Unnur Thorsteinsdottir Fridbert Jonasson R Rand Allingham Dan Milea Robert Ritch Toshiaki Kubota Kei Tashiro Eranga N Vithana Shazia Micheal Fotis Topouzis Jamie E Craig Michael Dubina Periasamy Sundaresan Kari Stefansson Janey L Wiggs Francesca Pasutto Chiea Chuen Khor

Nat Genet 2017 07 29;49(7):993-1004. Epub 2017 May 29.

Singapore Eye Research Institute, Singapore.

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http://dx.doi.org/10.1038/ng.3875DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685441PMC
July 2017

Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population.

BMC Med Genet 2017 06 26;18(1):69. Epub 2017 Jun 26.

The Key Laboratory for Human Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.

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http://dx.doi.org/10.1186/s12881-017-0423-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5485673PMC
June 2017

Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

Sci Rep 2017 05 16;7(1):1948. Epub 2017 May 16.

Sichuan Provincial Key Laboratory for Human Disease Gene Study and the Department of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, 32 the First Ring Road West 2, Chengdu, Sichuan, 610072, China.

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http://dx.doi.org/10.1038/s41598-017-00963-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5434011PMC
May 2017

ABNORMAL VASCULAR BUNDLES regulates cell proliferation and procambium cell establishment during aerial organ development in rice.

New Phytol 2017 01 22;213(1):275-286. Epub 2016 Aug 22.

Key Laboratory of Application and Safety Control of Genetically Modified Crops, College of Agronomy and Biotechnology, Southwest University, Chongqing, 400715, China.

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http://dx.doi.org/10.1111/nph.14142DOI Listing
January 2017

Protective effects of an HTRA1 insertion-deletion variant against age-related macular degeneration in the Chinese populations.

Lab Invest 2017 01 14;97(1):43-52. Epub 2016 Nov 14.

Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Kowloon, Hong Kong.

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http://dx.doi.org/10.1038/labinvest.2016.117DOI Listing
January 2017

Whole exome sequencing identified novel CRB1 mutations in Chinese and Indian populations with autosomal recessive retinitis pigmentosa.

Sci Rep 2016 Sep 27;6:33681. Epub 2016 Sep 27.

Sichuan Provincial Key Laboratory for Human Disease Gene Study, School of Medicine, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037368PMC
http://dx.doi.org/10.1038/srep33681DOI Listing
September 2016

[Association of PLEKHA7, COL11A1 and PCMTD1-ST18 gene polymorphisms with primary angle closure glaucoma in ethnic Han Chinese from Sichuan].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016 Aug;33(4):545-9

Southwestern Medical University, Luzhou, Sichuan 646000, China; Sichuan Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan 610000, China. Email:

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http://doi.med.wanfangdata.com.cn/10.3760/cma.j.issn.1003-94
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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2016.04.027DOI Listing
August 2016

Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy.

Genet Test Mol Biomarkers 2016 Jul 26;20(7):346-51. Epub 2016 May 26.

2 Sichuan Provincial Key Laboratory for Human Disease Gene Study, School of Medicine, Hospital of the University of Electronic Science and Technology of China , and Sichuan Provincial People's Hospital, Chengdu, China .

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http://dx.doi.org/10.1089/gtmb.2015.0322DOI Listing
July 2016

Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.

Int J Mol Med 2016 Jun 8;37(6):1528-34. Epub 2016 Apr 8.

Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, Sichuan, P.R. China.

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http://dx.doi.org/10.3892/ijmm.2016.2551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4866957PMC
June 2016

A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia.

Hum Genome Var 2016 9;3:16009. Epub 2016 Jun 9.

Sichuan Provincial Key Laboratory for Human Disease Gene Study, The Institute of Laboratory Medicine, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China; Clinical Medicine College, Sichuan Medical University, Sichuan, China.

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http://dx.doi.org/10.1038/hgv.2016.9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4899602PMC
June 2016

A high-throughput pipeline for the production of synthetic antibodies for analysis of ribonucleoprotein complexes.

RNA 2016 Apr 4;22(4):636-55. Epub 2016 Feb 4.

Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario, Canada M5S 3E1 Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada M5S 1A8.

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http://dx.doi.org/10.1261/rna.055186.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4793217PMC
April 2016

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Authors:
Lars G Fritsche Wilmar Igl Jessica N Cooke Bailey Felix Grassmann Sebanti Sengupta Jennifer L Bragg-Gresham Kathryn P Burdon Scott J Hebbring Cindy Wen Mathias Gorski Ivana K Kim David Cho Donald Zack Eric Souied Hendrik P N Scholl Elisa Bala Kristine E Lee David J Hunter Rebecca J Sardell Paul Mitchell Joanna E Merriam Valentina Cipriani Joshua D Hoffman Tina Schick Yara T E Lechanteur Robyn H Guymer Matthew P Johnson Yingda Jiang Chloe M Stanton Gabriëlle H S Buitendijk Xiaowei Zhan Alan M Kwong Alexis Boleda Matthew Brooks Linn Gieser Rinki Ratnapriya Kari E Branham Johanna R Foerster John R Heckenlively Mohammad I Othman Brendan J Vote Helena Hai Liang Emmanuelle Souzeau Ian L McAllister Timothy Isaacs Janette Hall Stewart Lake David A Mackey Ian J Constable Jamie E Craig Terrie E Kitchner Zhenglin Yang Zhiguang Su Hongrong Luo Daniel Chen Hong Ouyang Ken Flagg Danni Lin Guanping Mao Henry Ferreyra Klaus Stark Claudia N von Strachwitz Armin Wolf Caroline Brandl Guenther Rudolph Matthias Olden Margaux A Morrison Denise J Morgan Matthew Schu Jeeyun Ahn Giuliana Silvestri Evangelia E Tsironi Kyu Hyung Park Lindsay A Farrer Anton Orlin Alexander Brucker Mingyao Li Christine A Curcio Saddek Mohand-Saïd José-Alain Sahel Isabelle Audo Mustapha Benchaboune Angela J Cree Christina A Rennie Srinivas V Goverdhan Michelle Grunin Shira Hagbi-Levi Peter Campochiaro Nicholas Katsanis Frank G Holz Frédéric Blond Hélène Blanché Jean-François Deleuze Robert P Igo Barbara Truitt Neal S Peachey Stacy M Meuer Chelsea E Myers Emily L Moore Ronald Klein Michael A Hauser Eric A Postel Monique D Courtenay Stephen G Schwartz Jaclyn L Kovach William K Scott Gerald Liew Ava G Tan Bamini Gopinath John C Merriam R Theodore Smith Jane C Khan Humma Shahid Anthony T Moore J Allie McGrath Reneé Laux Milam A Brantley Anita Agarwal Lebriz Ersoy Albert Caramoy Thomas Langmann Nicole T M Saksens Eiko K de Jong Carel B Hoyng Melinda S Cain Andrea J Richardson Tammy M Martin John Blangero Daniel E Weeks Bal Dhillon Cornelia M van Duijn Kimberly F Doheny Jane Romm Caroline C W Klaver Caroline Hayward Michael B Gorin Michael L Klein Paul N Baird Anneke I den Hollander Sascha Fauser John R W Yates Rando Allikmets Jie Jin Wang Debra A Schaumberg Barbara E K Klein Stephanie A Hagstrom Itay Chowers Andrew J Lotery Thierry Léveillard Kang Zhang Murray H Brilliant Alex W Hewitt Anand Swaroop Emily Y Chew Margaret A Pericak-Vance Margaret DeAngelis Dwight Stambolian Jonathan L Haines Sudha K Iyengar Bernhard H F Weber Gonçalo R Abecasis Iris M Heid

Nat Genet 2016 Feb 21;48(2):134-43. Epub 2015 Dec 21.

Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1038/ng.3448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745342PMC
February 2016

Associations of 6p21.3 Region with Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy.

Sci Rep 2016 Feb 10;6:20914. Epub 2016 Feb 10.

Sichuan Provincial Key Laboratory for Human Disease Gene Study, School of Medicine, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.

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http://dx.doi.org/10.1038/srep20914DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748259PMC
February 2016

Genetic variants in PVRL2-TOMM40-APOE region are associated with human longevity in a Han Chinese population.

PLoS One 2014 12;9(6):e99580. Epub 2014 Jun 12.

Sichuan Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Sichuan, China; Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0099580PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4055715PMC
December 2015

Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family.

Sci Rep 2015 Dec 15;5:17947. Epub 2015 Dec 15.

Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.

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http://dx.doi.org/10.1038/srep17947DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678370PMC
December 2015

Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy.

Sci Rep 2015 Nov 4;5:16120. Epub 2015 Nov 4.

Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, Sichuan 610072, China.

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http://dx.doi.org/10.1038/srep16120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4632081PMC
November 2015

Programming a Pavlovian-like conditioning circuit in Escherichia coli.

Nat Commun 2014 ;5:3102

1] Peking-Tsinghua Joint Centre for Life Sciences, Peking University, Beijing 100871, China [2] Centre for Quantitative Biology, Peking University, Beijing 100871, China [3] The State Key Laboratory for Artificial Microstructures and Mesoscopic Physics, School of Physics, Peking University, Beijing 100871, China.

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http://dx.doi.org/10.1038/ncomms4102DOI Listing
October 2015

Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma.

Gene 2015 Oct 19;571(2):188-93. Epub 2015 Jun 19.

Sichuan Provincial Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.06.042DOI Listing
October 2015

Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.

J Hum Genet 2015 Oct 6;60(10):625-30. Epub 2015 Aug 6.

Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China.

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http://dx.doi.org/10.1038/jhg.2015.92DOI Listing
October 2015

Evaluation of the Association Between Common Genetic Variants Near the ABCA1 Gene and Primary Angle Closure Glaucoma in a Han Chinese Population.

Invest Ophthalmol Vis Sci 2015 Oct;56(11):6248-54

Sichuan Provincial Key Laboratory for Human Disease Gene Study, the Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China 2Chengdu Institute of B.

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http://iovs.arvojournals.org/data/Journals/IOVS/934564/i1552
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http://dx.doi.org/10.1167/iovs.15-16741DOI Listing
October 2015

A common variant near TGFBR3 is associated with primary open angle glaucoma.

Authors:
Zheng Li R Rand Allingham Masakazu Nakano Liyun Jia Yuhong Chen Yoko Ikeda Baskaran Mani Li-Jia Chen Changwon Kee David F Garway-Heath Sarangapani Sripriya Nobuo Fuse Khaled K Abu-Amero Chukai Huang Prasanthi Namburi Kathryn Burdon Shamira A Perera Puya Gharahkhani Ying Lin Morio Ueno Mineo Ozaki Takanori Mizoguchi Subbiah Ramasamy Krishnadas Essam A Osman Mei Chin Lee Anita S Y Chan Liza-Sharmini A Tajudin Tan Do Aurelien Goncalves Pascal Reynier Hong Zhang Rupert Bourne David Goh David Broadway Rahat Husain Anil K Negi Daniel H Su Ching-Lin Ho Augusto Azuara Blanco Christopher K S Leung Tina T Wong Azhany Yakub Yutao Liu Monisha E Nongpiur Jong Chul Han Do Nhu Hon Balekudaru Shantha Bowen Zhao Jinghong Sang NiHong Zhang Ryuichi Sato Kengo Yoshii Songhomita Panda-Jonas Allison E Ashley Koch Leon W Herndon Sayoko E Moroi Pratap Challa Jia Nee Foo Jin-Xin Bei Yi-Xin Zeng Cameron P Simmons Tran Nguyen Bich Chau Philomenadin Ferdinamarie Sharmila Merwyn Chew Blanche Lim Pansy O S Tam Elaine Chua Xiao Yu Ng Victor H K Yong Yaan Fun Chong Wee Yang Meah Saravanan Vijayan Sohn Seongsoo Wang Xu Yik Ying Teo Jessica N Cooke Bailey Jae H Kang Jonathan L Haines Ching Yu Cheng Seang-Mei Saw E-Shyong Tai Julia E Richards Robert Ritch Douglas E Gaasterland Louis R Pasquale Jianjun Liu Jost B Jonas Dan Milea Ronnie George Saleh A Al-Obeidan Kazuhiko Mori Stuart Macgregor Alex W Hewitt Christopher A Girkin Mingzhi Zhang Periasamy Sundaresan Lingam Vijaya David A Mackey Tien Yin Wong Jamie E Craig Xinghuai Sun Shigeru Kinoshita Janey L Wiggs Chiea-Chuen Khor Zhenglin Yang Chi Pui Pang Ningli Wang Michael A Hauser Kei Tashiro Tin Aung Eranga N Vithana

Hum Mol Genet 2015 Jul 10;24(13):3880-92. Epub 2015 Apr 10.

Singapore Eye Research Institute, Department of Ophthalmology, Yong Loo Lin School of Medicine, Duke-NUS Graduate Medical School, Singapore, Singapore,

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http://dx.doi.org/10.1093/hmg/ddv128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4459396PMC
July 2015

Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.

Mol Vis 2014 20;20:1296-306. Epub 2014 Sep 20.

Sichuan Provincial Key Laboratory for Human Disease Gene Study, University of electronic science and technology affiliated hospital & Sichuan Provincial People's Hospital, Sichuan, China ; School of Medicine, University of Electronic Science and Technology, Sichuan, China ; Chengdu Institute of Biology, Chinese Academy of Sciences and Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, Chengdu, Sichuan, China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169774PMC
June 2015

Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

Authors:
Tin Aung Mineo Ozaki Takanori Mizoguchi R Rand Allingham Zheng Li Aravind Haripriya Satoko Nakano Steffen Uebe Jeffrey M Harder Anita S Y Chan Mei Chin Lee Kathryn P Burdon Yury S Astakhov Khaled K Abu-Amero Juan C Zenteno Yildirim Nilgün Tomasz Zarnowski Mohammad Pakravan Leen Abu Safieh Liyun Jia Ya Xing Wang Susan Williams Daniela Paoli Patricio G Schlottmann Lulin Huang Kar Seng Sim Jia Nee Foo Masakazu Nakano Yoko Ikeda Rajesh S Kumar Morio Ueno Shin-Ichi Manabe Ken Hayashi Shigeyasu Kazama Ryuichi Ideta Yosai Mori Kazunori Miyata Kazuhisa Sugiyama Tomomi Higashide Etsuo Chihara Kenji Inoue Satoshi Ishiko Akitoshi Yoshida Masahide Yanagi Yoshiaki Kiuchi Makoto Aihara Tsutomu Ohashi Toshiya Sakurai Takako Sugimoto Hideki Chuman Fumihiko Matsuda Kenji Yamashiro Norimoto Gotoh Masahiro Miyake Sergei Y Astakhov Essam A Osman Saleh A Al-Obeidan Ohoud Owaidhah Leyla Al-Jasim Sami Al Shahwan Rhys A Fogarty Paul Leo Yaz Yetkin Çilingir Oğuz Mozhgan Rezaei Kanavi Afsaneh Naderi Beni Shahin Yazdani Evgeny L Akopov Kai-Yee Toh Gareth R Howell Andrew C Orr Yufen Goh Wee Yang Meah Su Qin Peh Ewa Kosior-Jarecka Urszula Lukasik Mandy Krumbiegel Eranga N Vithana Tien Yin Wong Yutao Liu Allison E Ashley Koch Pratap Challa Robyn M Rautenbach David A Mackey Alex W Hewitt Paul Mitchell Jie Jin Wang Ari Ziskind Trevor Carmichael Rangappa Ramakrishnan Kalpana Narendran Rangaraj Venkatesh Saravanan Vijayan Peiquan Zhao Xueyi Chen Dalia Guadarrama-Vallejo Ching Yu Cheng Shamira A Perera Rahat Husain Su-Ling Ho Ulrich-Christoph Welge-Luessen Christian Mardin Ursula Schloetzer-Schrehardt Axel M Hillmer Stefan Herms Susanne Moebus Markus M Nöthen Nicole Weisschuh Rohit Shetty Arkasubhra Ghosh Yik Ying Teo Matthew A Brown Ignacio Lischinsky Jonathan G Crowston Michae Coote Bowen Zhao Jinghong Sang Nihong Zhang Qisheng You Vera Vysochinskaya Panayiota Founti Anthoula Chatzikyriakidou Alexandros Lambropoulos Eleftherios Anastasopoulos Anne L Coleman M Roy Wilson Douglas J Rhee Jae Hee Kang Inna May-Bolchakova Steffen Heegaard Kazuhiko Mori Wallace L M Alward Jost B Jonas Liang Xu Jeffrey M Liebmann Balram Chowbay Elke Schaeffeler Matthias Schwab Fabian Lerner Ningli Wang Zhenglin Yang Paolo Frezzotti Shigeru Kinoshita John H Fingert Masaru Inatani Kei Tashiro André Reis Deepak P Edward Louis R Pasquale Toshiaki Kubota Janey L Wiggs Francesca Pasutto Fotis Topouzis Michael Dubina Jamie E Craig Nagahisa Yoshimura Periasamy Sundaresan Simon W M John Robert Ritch Michael A Hauser Chiea-Chuen Khor

Nat Genet 2015 Jun;47(6):689

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http://dx.doi.org/10.1038/ng0615-689cDOI Listing
June 2015

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

Authors:
Tin Aung Mineo Ozaki Takanori Mizoguchi R Rand Allingham Zheng Li Aravind Haripriya Satoko Nakano Steffen Uebe Jeffrey M Harder Anita S Y Chan Mei Chin Lee Kathryn P Burdon Yury S Astakhov Khaled K Abu-Amero Juan C Zenteno Yildirim Nilgün Tomasz Zarnowski Mohammad Pakravan Leen Abu Safieh Liyun Jia Ya Xing Wang Susan Williams Daniela Paoli Patricio G Schlottmann Lulin Huang Kar Seng Sim Jia Nee Foo Masakazu Nakano Yoko Ikeda Rajesh S Kumar Morio Ueno Shin-ichi Manabe Ken Hayashi Shigeyasu Kazama Ryuichi Ideta Yosai Mori Kazunori Miyata Kazuhisa Sugiyama Tomomi Higashide Etsuo Chihara Kenji Inoue Satoshi Ishiko Akitoshi Yoshida Masahide Yanagi Yoshiaki Kiuchi Makoto Aihara Tsutomu Ohashi Toshiya Sakurai Takako Sugimoto Hideki Chuman Fumihiko Matsuda Kenji Yamashiro Norimoto Gotoh Masahiro Miyake Sergei Y Astakhov Essam A Osman Saleh A Al-Obeidan Ohoud Owaidhah Leyla Al-Jasim Sami Al Shahwan Rhys A Fogarty Paul Leo Yaz Yetkin Çilingir Oğuz Mozhgan Rezaei Kanavi Afsaneh Nederi Beni Shahin Yazdani Evgeny L Akopov Kai-Yee Toh Gareth R Howell Andrew C Orr Yufen Goh Wee Yang Meah Su Qin Peh Ewa Kosior-Jarecka Urszula Lukasik Mandy Krumbiegel Eranga N Vithana Tien Yin Wong Yutao Liu Allison E Ashley Koch Pratap Challa Robyn M Rautenbach David A Mackey Alex W Hewitt Paul Mitchell Jie Jin Wang Ari Ziskind Trevor Carmichael Rangappa Ramakrishnan Kalpana Narendran Rangaraj Venkatesh Saravanan Vijayan Peiquan Zhao Xueyi Chen Dalia Guadarrama-Vallejo Ching Yu Cheng Shamira A Perera Rahat Husain Su-Ling Ho Ulrich-Christoph Welge-Luessen Christian Mardin Ursula Schloetzer-Schrehardt Axel M Hillmer Stefan Herms Susanne Moebus Markus M Nöthen Nicole Weisschuh Rohit Shetty Arkasubhra Ghosh Yik Ying Teo Matthew A Brown Ignacio Lischinsky Jonathan G Crowston Michael Coote Bowen Zhao Jinghong Sang Nihong Zhang Qisheng You Vera Vysochinskaya Panayiota Founti Anthoula Chatzikyriakidou Alexandros Lambropoulos Eleftherios Anastasopoulos Anne L Coleman M Roy Wilson Douglas J Rhee Jae Hee Kang Inna May-Bolchakova Steffen Heegaard Kazuhiko Mori Wallace L M Alward Jost B Jonas Liang Xu Jeffrey M Liebmann Balram Chowbay Elke Schaeffeler Matthias Schwab Fabian Lerner Ningli Wang Zhenglin Yang Paolo Frezzotti Shigeru Kinoshita John H Fingert Masaru Inatani Kei Tashiro André Reis Deepak P Edward Louis R Pasquale Toshiaki Kubota Janey L Wiggs Francesca Pasutto Fotis Topouzis Michael Dubina Jamie E Craig Nagahisa Yoshimura Periasamy Sundaresan Simon W M John Robert Ritch Michael A Hauser Chiea-Chuen Khor

Nat Genet 2015 Apr 23;47(4):387-92. Epub 2015 Feb 23.

1] Singapore Eye Research Institute, Singapore. [2] Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore. [3] Division of Human Genetics, Genome Institute of Singapore, Singapore.

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http://dx.doi.org/10.1038/ng.3226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4605818PMC
April 2015

Altered intrinsic brain activity in patients with familial cortical myoclonic tremor and epilepsy: an amplitude of low-frequency fluctuation study.

J Neurol Sci 2015 Apr 10;351(1-2):133-139. Epub 2015 Mar 10.

College of Material Sciences and Engineering, Southwest Jiaotong University, Chengdu, Sichuan, China; Sichuan Provincial Key Laboratory for Human Disease Gene Study and Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China; Department of Neurology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China; Chengdu Institute of Biology, Chinese Academy of Sciences and Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, Chengdu, Sichuan, China. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2015.03.005DOI Listing
April 2015

[Progress in molecular genetic studies of retinitis pigmentosa].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2015 Apr;32(2):280-3

Luzhou Medical College, Luzhou, Sichuan 646000, P.R. China.

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2015.02.028DOI Listing
April 2015

Mistrafficking of prenylated proteins causes retinitis pigmentosa 2.

FASEB J 2015 Mar 24;29(3):932-42. Epub 2014 Nov 24.

*The Sichuan Provincial Key Laboratory for Human Disease Gene Study, The Institute of Laboratory Medicine, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China; Department of Ophthalmology and Visual Sciences, John A. Moran Eye Center, and Department of Neurobiology and Anatomy, University of Utah School of Medicine, Salt Lake City, Utah, USA; Department of Biochemistry and Biology, University of Potsdam, Potsdam-Golm, Germany; and Department of Biology, University of Utah, Salt Lake City, Utah, USA

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http://dx.doi.org/10.1096/fj.14-257915DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422365PMC
March 2015

Mutation spectrum of CYP1B1 in Chinese patients with primary open-angle glaucoma.

Br J Ophthalmol 2015 Mar 19;99(3):425-30. Epub 2014 Dec 19.

Sichuan Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.

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http://dx.doi.org/10.1136/bjophthalmol-2014-306054DOI Listing
March 2015

Corrigendum: New loci and coding variants confer risk for age-related macular degeneration in East Asians.

Nat Commun 2015 Mar 30;6:6817. Epub 2015 Mar 30.

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http://dx.doi.org/10.1038/ncomms7817DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4400603PMC
March 2015

Genetic association study between INSULIN pathway related genes and high myopia in a Han Chinese population.

Mol Biol Rep 2015 Jan 30;42(1):303-10. Epub 2014 Sep 30.

School of materials Science and Engineering, Southwest Jiaotong University, Chengdu, 610031, Sichuan, China.

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http://link.springer.com/content/pdf/10.1007%2Fs11033-014-37
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http://link.springer.com/10.1007/s11033-014-3773-6
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http://dx.doi.org/10.1007/s11033-014-3773-6DOI Listing
January 2015

Evaluation of four genetic variants in han chinese subjects with high myopia.

J Ophthalmol 2015 5;2015:729463. Epub 2015 Jan 5.

Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, 32 the First Ring Road West 2, Chengdu, Sichuan 610072, China ; Department of Laboratory Medicine, Sichuan Provincial People's Hospital, 32 the First Ring Road West 2, Chengdu, Sichuan 610072, China ; School of Medicine, University of Electronic Science and Technology of China, 32 the First Ring Road West 2, Chengdu, Sichuan 610072, China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4300030PMC
January 2015

New loci and coding variants confer risk for age-related macular degeneration in East Asians.

Nat Commun 2015 Jan 28;6:6063. Epub 2015 Jan 28.

1] Singapore Eye Research Institute, Singapore 169856, Singapore [2] Division of Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore [3] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117549, Singapore.

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http://dx.doi.org/10.1038/ncomms7063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4317498PMC
January 2015

Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt disease.

PLoS One 2014 14;9(3):e91962. Epub 2014 Mar 14.

Sichuan Provincial Key Laboratory for Human Disease Gene Study and Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China; Chengdu Institute of Biology, Chinese Academy of Sciences and Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, Chengdu, Sichuan, China; Key Laboratory for NeuroInformation of Ministry of Education, University of Electronic Science and Technology of China, Chengdu, Sichuan, China; College of Life Sciences and Engineering, Xinan Jiaotong University, Chengdu, Sichuan, China.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0091962PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3954841PMC
November 2014

Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma.

Nat Genet 2014 Oct 31;46(10):1115-9. Epub 2014 Aug 31.

1] Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China. [2] School of Medicine, University of Electronic Science and Technology of China, Chengdu, China. [3] Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China. [4].

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http://dx.doi.org/10.1038/ng.3078DOI Listing
October 2014

Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.

Mol Vis 2014 29;20:395-409. Epub 2014 Mar 29.

Sichuan Key Laboratory for Human Disease Gene Study, Institute of Laboratory Medicine, School of Medicine, University of Science and Technology of China & Sichuan Provincial People's Hospital & Sichuan Provincial People's Hospital, Sichuan, China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976684PMC
September 2014

Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3.

Nat Genet 2014 Sep 10;46(9):1007-11. Epub 2014 Aug 10.

1] The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [2] Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [3] Chongqing Eye Institute, Chongqing, China. [4].

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http://dx.doi.org/10.1038/ng.3061DOI Listing
September 2014

A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.

PLoS One 2013 11;8(11):e78274. Epub 2013 Nov 11.

Center for Human Molecular Biology & Genetics, The Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China ; Sichuan Translational Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0078274PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3823919PMC
July 2014

Association study of polymorphisms in selenoprotein genes and Kashin-Beck disease and serum selenium/iodine concentration in a Tibetan population.

PLoS One 2013 23;8(8):e71411. Epub 2013 Aug 23.

Center for Human Molecular Biology & Genetics, The Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China ; Sichuan Translational Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751926PMC
June 2014

Evaluation of MYOC, ACAN, HGF, and MET as candidate genes for high myopia in a Han Chinese population.

Genet Test Mol Biomarkers 2014 Jun 25;18(6):446-52. Epub 2014 Apr 25.

1 Department of Ophthalmology, Qingdao University School of Medicine, Affiliated Hospital of Qingdao University School of Medicine , Qingdao, China .

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http://dx.doi.org/10.1089/gtmb.2013.0479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043249PMC
June 2014

Genes in the high-density lipoprotein metabolic pathway in age-related macular degeneration and polypoidal choroidal vasculopathy.

Ophthalmology 2014 Apr 3;121(4):911-6. Epub 2014 Jan 3.

Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2013.10.042DOI Listing
April 2014

Evaluation of MMP2 as a candidate gene for high myopia.

Mol Vis 2013 28;19:121-7. Epub 2013 Jan 28.

Sichuan Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3559096PMC
September 2013

Loss of caveolin-1 promotes endothelial-mesenchymal transition during sepsis: a membrane proteomic study.

Int J Mol Med 2013 Sep 5;32(3):585-92. Epub 2013 Jul 5.

Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan 610072, P.R. China.

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http://dx.doi.org/10.3892/ijmm.2013.1432DOI Listing
September 2013

A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population.

Hum Mol Genet 2013 Jun 12;22(11):2325-33. Epub 2013 Feb 12.

The Sichuan Provincial Key Laboratory for Human Disease Gene Study, The Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, China.

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http://dx.doi.org/10.1093/hmg/ddt066DOI Listing
June 2013

Suppression of Rap1 impairs cardiac myofibrils and conduction system in zebrafish.

PLoS One 2012 30;7(11):e50960. Epub 2012 Nov 30.

State Key Laboratory of Biomembrane and Membrane Biotechnology, Peking University, Beijing, China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511394PMC
May 2013

Associations of the C2-CFB-RDBP-SKIV2L locus with age-related macular degeneration and polypoidal choroidal vasculopathy.

Ophthalmology 2013 Apr 20;120(4):837-43. Epub 2012 Dec 20.

Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.

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http://dx.doi.org/10.1016/j.ophtha.2012.10.003DOI Listing
April 2013

A genetic variant in the SKIV2L gene is significantly associated with age-related macular degeneration in a Han Chinese population.

Invest Ophthalmol Vis Sci 2013 Apr 26;54(4):2911-7. Epub 2013 Apr 26.

The Sichuan Key Laboratory for Human Disease Gene Study, Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.

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http://dx.doi.org/10.1167/iovs.12-11381DOI Listing
April 2013

Identification of a susceptibility locus in STAT4 for Behçet's disease in Han Chinese in a genome-wide association study.

Arthritis Rheum 2012 Dec;64(12):4104-13

The First Affiliated Hospital of Chongqing Medical University and Chongqing Key Laboratory of Ophthalmology, Chongqing, China.

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http://dx.doi.org/10.1002/art.37708DOI Listing
December 2012

Automated design of genetic toggle switches with predetermined bistability.

ACS Synth Biol 2012 Jul 14;1(7):284-90. Epub 2012 May 14.

Peking University Team for the International Genetically Engineered Machine Competition (iGEM), School of Physics, Peking University, Beijng, 100871, China.

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http://dx.doi.org/10.1021/sb300027yDOI Listing
July 2012

Rolling-leaf14 is a 2OG-Fe (II) oxygenase family protein that modulates rice leaf rolling by affecting secondary cell wall formation in leaves.

Plant Biotechnol J 2012 Jun 14;10(5):524-32. Epub 2012 Feb 14.

Rice Research Institute, Chongqing Key Laboratory of Application and Safety Control of Genetically Modified Crops, Southwest University, Chongqing, China.

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http://dx.doi.org/10.1111/j.1467-7652.2012.00679.xDOI Listing
June 2012

The genetic variants at the HLA-DRB1 gene are associated with primary IgA nephropathy in Han Chinese.

BMC Med Genet 2012 May 14;13:33. Epub 2012 May 14.

Center for Human Molecular Biology & Genetics, Sichuan Academy of Medical Science & Sichuan Provincial People's Hospital, Chengdu, Sichuan, 617002, China.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3407495PMC
May 2012

An association study of the COL1A1 gene and high myopia in a Han Chinese population.

Mol Vis 2011 24;17:3379-83. Epub 2011 Dec 24.

Sichuan Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, Sichuan, China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3247168PMC
April 2012

Exome sequencing identifies ZNF644 mutations in high myopia.

PLoS Genet 2011 Jun 9;7(6):e1002084. Epub 2011 Jun 9.

The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.

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http://dx.plos.org/10.1371/journal.pgen.1002084
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3111487PMC
June 2011