Publications by authors named "Periasamy Sundaresan"

77Publications

Identification of Novel Mutations in the and Genes in Patients with Familial Exudative Vitreoretinopathy in South India.

Genet Test Mol Biomarkers 2020 Feb;24(2):92-98

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, China.

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http://dx.doi.org/10.1089/gtmb.2019.0212DOI Listing
February 2020

A novel 5 bp homozygous deletion mutation in ASPH gene associates with Traboulsi syndrome.

Ophthalmic Genet 2019 04 23;40(2):185-187. Epub 2019 Apr 23.

b Department of Genetics , Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital , Madurai , India.

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http://dx.doi.org/10.1080/13816810.2019.1605390DOI Listing
April 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

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

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

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 Primary Angle-Closure Glaucoma Susceptibility Loci in Patients with Early Stages of Angle-Closure Disease.

Ophthalmology 2018 05 6;125(5):664-670. Epub 2018 Jan 6.

Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Republic of Singapore; Duke-National University of Singapore Medical School, Singapore, Republic of Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2017.11.016DOI Listing
May 2018

Genetic risk factors for late age-related macular degeneration in India.

Br J Ophthalmol 2018 09 19;102(9):1213-1217. Epub 2017 Dec 19.

Faculty of Epidemiology and Population Health, London School of Hygiene & Tropical Medicine, London, UK.

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http://dx.doi.org/10.1136/bjophthalmol-2017-311384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6104670PMC
September 2018

Multiplex Cytokine Analysis of Aqueous Humor from the Patients with Chronic Primary Angle Closure Glaucoma.

Curr Eye Res 2017 12 22;42(12):1608-1613. Epub 2017 Sep 22.

a Department of Genetics , Aravind Medical Research Foundation , Madurai , Tamil Nadu , India.

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http://dx.doi.org/10.1080/02713683.2017.1362003DOI Listing
December 2017

Establishment of human retinal mitoscriptome gene expression signature for diabetic retinopathy using cadaver eyes.

Mitochondrion 2017 09 18;36:150-181. Epub 2017 Jul 18.

Department of Genetics, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, Tamil Nadu, India. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2017.07.007DOI Listing
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

Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma.

Genet Test Mol Biomarkers 2017 Apr 27;21(4):252-258. Epub 2017 Feb 27.

6 Department of Genetics, Aravind Medical Research Foundation, Aravind Eye Hospital , Madurai, Tamilnadu, India .

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http://dx.doi.org/10.1089/gtmb.2016.0203DOI Listing
April 2017

MTHFR and MTHFD1 gene polymorphisms are not associated with pseudoexfoliation syndrome in South Indian population.

Int Ophthalmol 2018 Apr 15;38(2):599-606. Epub 2017 Mar 15.

Department of Genetics, Aravind Medical Research Foundation, Dr G. Venkataswamy Eye Research Institute, Anna Nagar 1, Madurai, Tamil Nadu, 625020, India.

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http://dx.doi.org/10.1007/s10792-017-0498-2DOI Listing
April 2018

Whole mitochondrial genome analysis in South Indian patients with Leber's hereditary optic neuropathy.

Mitochondrion 2017 09 28;36:21-28. Epub 2016 Oct 28.

Department of Genetics, Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Madurai, India. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2016.10.006DOI Listing
September 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

Clinical and genetic characterization of a large primary open angle glaucoma pedigree.

Ophthalmic Genet 2017 May-Jun;38(3):222-225. Epub 2016 Jun 29.

e Department of Ophthalmology and Visual Sciences, Carver College of Medicine , University of Iowa , Iowa City , Iowa , USA.

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http://dx.doi.org/10.1080/13816810.2016.1193883DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5329139PMC
November 2017

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

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.

Authors:
Chiea Chuen Khor Tan Do Hongyan Jia Masakazu Nakano Ronnie George Khaled Abu-Amero Roopam Duvesh Li Jia Chen Zheng Li Monisha E Nongpiur Shamira A Perera Chunyan Qiao Hon-Tym Wong Hiroshi Sakai Mônica Barbosa de Melo Mei-Chin Lee Anita S Chan Yaakub Azhany Thi Lam Huong Dao Yoko Ikeda Rodolfo A Perez-Grossmann Tomasz Zarnowski Alexander C Day Jost B Jonas Pancy O S Tam Tuan Anh Tran Humaira Ayub Farah Akhtar Shazia Micheal Paul T K Chew Leyla A Aljasim Tanuj Dada Tam Thi Luu Mona S Awadalla Naris Kitnarong Boonsong Wanichwecharungruang Yee Yee Aung Jelinar Mohamed-Noor Saravanan Vijayan Sripriya Sarangapani Rahat Husain Aliza Jap Mani Baskaran David Goh Daniel H Su Huaizhou Wang Vernon K Yong Leonard W Yip Tuyet Bach Trinh Manchima Makornwattana Thanh Thu Nguyen Edgar U Leuenberger Ki-Ho Park Widya Artini Wiyogo Rajesh S Kumar Celso Tello Yasuo Kurimoto Suman S Thapa Kessara Pathanapitoon John F Salmon Yong Ho Sohn Antonio Fea Mineo Ozaki Jimmy S M Lai Visanee Tantisevi Chaw Chaw Khaing Takanori Mizoguchi Satoko Nakano Chan-Yun Kim Guangxian Tang Sujie Fan Renyi Wu Hailin Meng Thi Thuy Giang Nguyen Tien Dat Tran Morio Ueno Jose Maria Martinez Norlina Ramli Yin Mon Aung Rigo Daniel Reyes Stephen A Vernon Seng Kheong Fang Zhicheng Xie Xiao Yin Chen Jia Nee Foo Kar Seng Sim Tina T Wong Desmond T Quek Rengaraj Venkatesh Srinivasan Kavitha Subbiah R Krishnadas Nagaswamy Soumittra Balekudaru Shantha Boon-Ang Lim Jeanne Ogle José P C de Vasconcellos Vital P Costa Ricardo Y Abe Bruno B de Souza Chelvin C Sng Maria C Aquino Ewa Kosior-Jarecka Guillermo Barreto Fong Vania Castro Tamanaja Ricardo Fujita Yuzhen Jiang Naushin Waseem Sancy Low Huan Nguyen Pham Sami Al-Shahwan E Randy Craven Muhammad Imran Khan Rrima Dada Kuldeep Mohanty Muneeb A Faiq Alex W Hewitt Kathryn P Burdon Eng Hui Gan Anuwat Prutthipongsit Thipnapa Patthanathamrongkasem Mary Ann T Catacutan Irene R Felarca Chona S Liao Emma Rusmayani Vira Wardhana Istiantoro Giulia Consolandi Giulia Pignata Carlo Lavia Prin Rojanapongpun Lerprat Mangkornkanokpong Sunee Chansangpetch Jonathan C H Chan Bonnie N K Choy Jennifer W H Shum Hlaing May Than Khin Thida Oo Aye Thi Han Victor H Yong Xiao-Yu Ng Shuang Ru Goh Yaan Fun Chong Martin L Hibberd Mark Seielstad Eileen Png Sarah J Dunstan Nguyen Van Vinh Chau Jinxin Bei Yi Xin Zeng Abhilasha Karkey Buddha Basnyat Francesca Pasutto Daniela Paoli Paolo Frezzotti Jie Jin Wang Paul Mitchell John H Fingert R Rand Allingham Michael A Hauser Soon Thye Lim Soo Hong Chew Richard P Ebstein Anavaj Sakuntabhai Kyu Hyung Park Jeeyun Ahn Greet Boland Harm Snippe Richard Stead Raquel Quino Su Nyunt Zaw Urszula Lukasik Rohit Shetty Mimiwati Zahari Hyoung Won Bae Nay Lin Oo Toshiaki Kubota Anita Manassakorn Wing Lau Ho Laura Dallorto Young Hoon Hwang Christine A Kiire Masako Kuroda Zeiras Eka Djamal Jovell Ian M Peregrino Arkasubhra Ghosh Jin Wook Jeoung Tung S Hoan Nuttamon Srisamran Thayanithi Sandragasu Saw Htoo Set Vi Huyen Doan Shomi S Bhattacharya Ching-Lin Ho Donald T Tan Ramanjit Sihota Seng-Chee Loon Kazuhiko Mori Shigeru Kinoshita Anneke I den Hollander Raheel Qamar Ya-Xing Wang Yik Y Teo E-Shyong Tai Curt Hartleben-Matkin David Lozano-Giral Seang Mei Saw Ching-Yu Cheng Juan C Zenteno Chi Pui Pang Huong T T Bui Owen Hee Jamie E Craig Deepak P Edward Michiko Yonahara Jamil Miguel Neto Maria L Guevara-Fujita Liang Xu Robert Ritch Ahmad Tajudin Liza-Sharmini Tien Y Wong Saleh Al-Obeidan Nhu Hon Do Periasamy Sundaresan Clement C Tham Paul J Foster Lingam Vijaya Kei Tashiro Eranga N Vithana Ningli Wang Tin Aung

Nat Genet 2016 May 4;48(5):556-62. Epub 2016 Apr 4.

Singapore Eye Research Institute, Singapore National Eye Centre and Eye ACP, Duke-National University of Singapore, Singapore.

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http://www.nature.com/articles/ng.3540
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http://dx.doi.org/10.1038/ng.3540DOI Listing
May 2016

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

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 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

Evaluation of genetic polymorphisms in clusterin and tumor necrosis factor-alpha genes in South Indian individuals with pseudoexfoliation syndrome.

Curr Eye Res 2015 7;40(12):1218-24. Epub 2015 Apr 7.

a Department of Genetics , Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation , Madurai , Tamil Nadu , India .

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http://dx.doi.org/10.3109/02713683.2014.997884DOI Listing
July 2016

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

Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.

Mol Vis 2015 27;21:88-97. Epub 2015 Jan 27.

Department of Genetics, Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Madurai, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4316699PMC
September 2015

Polymorphisms in sodium-dependent vitamin C transporter genes and plasma, aqueous humor and lens nucleus ascorbate concentrations in an ascorbate depleted setting.

Exp Eye Res 2014 Jul 8;124:24-30. Epub 2014 May 8.

Faculty of Epidemiology & Population Health, London School of Hygiene & Tropical Medicine, Keppel St, London WC1E 7HT, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.exer.2014.04.022DOI Listing
July 2014

Lysyl oxidase-like 1 gene in the reversal of promoter risk allele in pseudoexfoliation syndrome.

JAMA Ophthalmol 2014 Aug;132(8):949-55

Department of Genetics, Aravind Medical Research Foundation, Dr G. Venkataswamy Eye Research Institute, Madurai, India.

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http://dx.doi.org/10.1001/jamaophthalmol.2014.845DOI Listing
August 2014

Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.

PLoS One 2013 16;8(9):e73172. Epub 2013 Sep 16.

Department of Genetics, Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, Tamil Nadu, India.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0073172PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3774716PMC
May 2014

Association study in a South Indian population supports rs1015213 as a risk factor for primary angle closure.

Invest Ophthalmol Vis Sci 2013 Aug 19;54(8):5624-8. Epub 2013 Aug 19.

Department of Genetics, Aravind Medical Research Foundation, Madurai, Tamil Nadu, India.

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http://dx.doi.org/10.1167/iovs.13-12186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3747718PMC
August 2013

Investigation of VSX1 sequence variants in South Indian patients with sporadic cases of keratoconus.

BMC Res Notes 2013 Mar 18;6:103. Epub 2013 Mar 18.

Department of Genetics, Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, Tamil Nadu, India.

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http://dx.doi.org/10.1186/1756-0500-6-103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3608990PMC
March 2013

Polymorphisms in ARMS2/HTRA1 and complement genes and age-related macular degeneration in India: findings from the INDEYE study.

Invest Ophthalmol Vis Sci 2012 Nov 1;53(12):7492-7. Epub 2012 Nov 1.

Department of Genetics, Dr G Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, Tamil Nadu, India.

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http://dx.doi.org/10.1167/iovs.12-10073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3490538PMC
November 2012

EPHA2 polymorphisms and age-related cataract in India.

PLoS One 2012 8;7(3):e33001. Epub 2012 Mar 8.

Department of Genetics, Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, Tamil Nadu, India.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0033001PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3297613PMC
August 2012

Evaluation of SNPs on chromosome 2p with primary open angle glaucoma in the South Indian cohort.

Invest Ophthalmol Vis Sci 2012 Apr 6;53(4):1861-4. Epub 2012 Apr 6.

Department of Genetics, Aravind Medical Research Foundation, Dr G. Venkataswamy Eye Research Institute, Madurai, India.

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http://dx.doi.org/10.1167/iovs.11-8602DOI Listing
April 2012

Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations.

Hum Mutat 2012 Feb 20;33(2):419-28. Epub 2011 Dec 20.

Membrane Protein Disease Research Group, Department of Physiology, School of Molecular and Systems Medicine, University of Alberta, Edmonton, Canada.

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http://dx.doi.org/10.1002/humu.21655DOI Listing
February 2012

Analysis of the SALL4 gene in patients with Duane retraction syndrome in a South Indian population.

Ophthalmic Genet 2011 Sep 15;32(3):156-7. Epub 2011 Mar 15.

Aravind Medical Research Foundation, Department of Genetics, Aravind Eye Care System, Madurai, India.

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http://dx.doi.org/10.3109/13816810.2011.559652DOI Listing
September 2011

Reduced frequency of known mutations in a cohort of LHON patients from India.

Ophthalmic Genet 2010 Dec 1;31(4):196-9. Epub 2010 Sep 1.

Department of Genetics, Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Madurai, Tamilnadu, India.

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http://dx.doi.org/10.3109/13816810.2010.510818DOI Listing
December 2010

Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.

Mol Vis 2010 Aug 9;16:1514-24. Epub 2010 Aug 9.

Department of Genetics, Dr. G.Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, Tamil Nadu, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2925902PMC
August 2010

Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India.

BMC Ophthalmol 2010 Feb 10;10. Epub 2010 Feb 10.

Department of Genetics, Dr G Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, #1 Anna nagar, Madurai, Tamilnadu, India.

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http://dx.doi.org/10.1186/1471-2415-10-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2834660PMC
February 2010

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.

Mol Vis 2009 Sep 4;15:1781-7. Epub 2009 Sep 4.

Department of Genetics, Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Madurai, Tamilnadu, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2742639PMC
September 2009

Genotype/phenotype association in Indian congenital aniridia.

Indian J Pediatr 2009 May 23;76(5):513-7. Epub 2009 Apr 23.

Department of Ophthalmology, Hebrew University Medical Center Jerusalem, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s12098-009-0075-4DOI Listing
May 2009

Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II.

Hum Genet 2009 Apr;125(3):340

Aravind Medical Research Foundation, Madurai, India.

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April 2009

Crystallin gene mutations in Indian families with inherited pediatric cataract.

Mol Vis 2008 Jun 16;14:1157-70. Epub 2008 Jun 16.

Department of Genetics, Dr. G. Venketaswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2435160PMC
June 2008

Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.

Hum Mutat 2008 Aug;29(8):E123-31

Department of Genetics, Dr. G.Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai 625020, India.

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http://dx.doi.org/10.1002/humu.20809DOI Listing
August 2008

Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy.

Arch Ophthalmol 2008 May;126(5):700-8

Department of Genetics, Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Madurai, India.

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http://dx.doi.org/10.1001/archopht.126.5.700DOI Listing
May 2008

Laboratory confirmation of congenital rubella syndrome in infants: an eye hospital based investigation.

J Med Virol 2008 Mar;80(3):536-46

Department of Immunology & Genetics, Aravind Medical Research Foundation, Madurai, India.

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http://dx.doi.org/10.1002/jmv.21097DOI Listing
March 2008

FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome.

J Genet 2007 Aug;86(2):165-8

Department of Genetics, Dr G.Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai 625 020, India.

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http://dx.doi.org/10.1007/s12041-007-0021-zDOI Listing
August 2007

In vitro and in vivo study on the secretion of the Gly367Arg mutant myocilin protein.

Mol Vis 2007 Jul 13;13:1161-8. Epub 2007 Jul 13.

Department of Genetics, Aravind Medical Research Foundation, Tamilnadu, India.

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July 2007

Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation.

Am J Ophthalmol 2007 Sep 12;144(3):419-423. Epub 2007 Jul 12.

Aravind Eye Hospital & Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India.

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http://dx.doi.org/10.1016/j.ajo.2007.05.016DOI Listing
September 2007

Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy.

Mol Vis 2006 Sep 21;12:1086-92. Epub 2006 Sep 21.

Department of Genetics, Aravind Medical Research Foundation, Madurai, India.

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September 2006

Association of VEGF and eNOS gene polymorphisms in type 2 diabetic retinopathy.

Mol Vis 2006 Apr 11;12:336-41. Epub 2006 Apr 11.

Department of Genetics, Aravind Medical Research foundation, Lions Aravind Institute of Community Ophthalmology (LAICO), Aravind Eye Care System, Madurai, India.

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April 2006

PAX6 missense mutations associated in patients with optic nerve malformation.

Mol Vis 2006 Mar 30;12:236-42. Epub 2006 Mar 30.

Department of Genetics, Aravind Medical Research Foundation, Madurai, India.

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March 2006

A review of genetic and structural understanding of the role of myocilin in primary open angle glaucoma.

Indian J Ophthalmol 2004 Dec;52(4):271-80

Department of Genetics, Aravind Eye Hospital, Madurai.

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December 2004

Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene.

Mol Vis 2004 Dec 27;10:1005-10. Epub 2004 Dec 27.

Department of Genetics, Aravind Medical Research Foundation, Madurai, Tamilnadu, India.

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December 2004

De novo deletions in the paired domain of PAX6 in south Indian aniridic patients.

J Hum Genet 2004 8;49(11):647-649. Epub 2004 Oct 8.

Department of Genetics, Aravind Medical Research Foundation, Madurai, 625 020, India.

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http://dx.doi.org/10.1007/s10038-004-0200-1DOI Listing
April 2005

PAX6 gene variations associated with aniridia in south India.

BMC Med Genet 2004 Apr 16;5. Epub 2004 Apr 16.

Department of Genetics, Aravind Medical Research Foundation, Madurai, India.

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http://dx.doi.org/10.1186/1471-2350-5-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC419353PMC
April 2004

Evaluation and understanding of myocilin mutations in Indian primary open angle glaucoma patients.

Mol Vis 2003 Nov 14;9:606-14. Epub 2003 Nov 14.

Department of Genetics, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, Tamilnadu, India.

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November 2003

A novel PAX6 gene mutation in an Indian aniridia patient.

Mol Vis 2003 May 29;9:205-9. Epub 2003 May 29.

Department of Genetics, Aravind Medical Research Foundation, Madurai, India.

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May 2003