Yaping Yang

Yaping Yang

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Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability.

J Pediatr Genet 2019 Dec 9;8(4):244-251. Epub 2019 Jul 9.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.

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http://dx.doi.org/10.1055/s-0039-1693151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824885PMC
December 2019

MiR-142a-3p alleviates Escherichia coli derived lipopolysaccharide-induced acute lung injury by targeting TAB2.

Microb Pathog 2019 Nov 5;136:103721. Epub 2019 Sep 5.

Department of Clinical Veterinary Medicine, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, 430070, People's Republic of China. Electronic address:

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http://dx.doi.org/10.1016/j.micpath.2019.103721DOI Listing
November 2019

Stacking Order in Graphite Films Controlled by van der Waals Technology.

Nano Lett 2019 Nov 5. Epub 2019 Nov 5.

School of Physics and Astronomy , University of Manchester , Oxford Road , Manchester , M13 9PL , United Kingdom.

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http://dx.doi.org/10.1021/acs.nanolett.9b03014DOI Listing
November 2019

A Genocentric Approach to Discovery of Mendelian Disorders.

Am J Hum Genet 2019 Nov 24;105(5):974-986. Epub 2019 Oct 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6849092PMC
November 2019

miR-488 mediates negative regulation of the AKT/NF-κB pathway by targeting Rac1 in LPS-induced inflammation.

J Cell Physiol 2019 Oct 31. Epub 2019 Oct 31.

Department of Clinical Veterinary Medicine, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, China.

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http://dx.doi.org/10.1002/jcp.29354DOI Listing
October 2019

The Potential Therapeutic Role of miR-223 in Bovine Endometritis by Targeting the NLRP3 Inflammasome.

Front Immunol 2018 22;9:1916. Epub 2018 Aug 22.

Department of Clinical Veterinary Medicine, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, China.

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http://dx.doi.org/10.3389/fimmu.2018.01916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6113393PMC
September 2019

Synthetic symbiosis combining plasmid displacement enables rapid construction of phenotype-stable strains.

Metab Eng 2019 Sep 20;55:85-91. Epub 2019 Jun 20.

School of Chemical, Materials and Biomedical Engineering, College of Engineering, The University of Georgia, Athens, GA, 30602, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymben.2019.06.011DOI Listing
September 2019

Developing a pyruvate-driven metabolic scenario for growth-coupled microbial production.

Metab Eng 2019 Sep 23;55:191-200. Epub 2019 Jul 23.

School of Chemical, Materials and Biomedical Engineering, College of Engineering, The University of Georgia, Athens, GA, 30602, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymben.2019.07.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6744941PMC
September 2019

Imaging features that distinguish pure ductal carcinoma (DCIS) from DCIS with microinvasion.

Mol Clin Oncol 2019 Sep 3;11(3):313-319. Epub 2019 Jul 3.

Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, Guangdong 510120, P.R. China.

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http://dx.doi.org/10.3892/mco.2019.1891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6667913PMC
September 2019

Hematological and biochemical parameters for Chinese rhesus macaque.

PLoS One 2019 17;14(9):e0222338. Epub 2019 Sep 17.

Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming, PR China.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0222338PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6748566PMC
September 2019

MicroRNA-188-5p promotes apoptosis and inhibits cell proliferation of breast cancer cells via the MAPK signaling pathway by targeting Rap2c.

J Cell Physiol 2019 Sep 20. Epub 2019 Sep 20.

Department of Clinical Veterinary Medicine, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, China.

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http://dx.doi.org/10.1002/jcp.29144DOI Listing
September 2019

De novo transcriptome analysis of Viola ×wittrockiana exposed to high temperature stress.

PLoS One 2019 24;14(9):e0222344. Epub 2019 Sep 24.

School of Horticulture and Landscape Architecture, Henan Institute of Science and Technology, Xinxiang, Henan, China.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0222344PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6759194PMC
September 2019

Circumferential Shaving of the Cavity in Breast-Conserving Surgery: A Randomized Controlled Trial.

Ann Surg Oncol 2019 Aug 19. Epub 2019 Aug 19.

Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.

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http://dx.doi.org/10.1245/s10434-019-07725-wDOI Listing
August 2019

MicroRNA-106a Provides Negative Feedback Regulation in Lipopolysaccharide-Induced Inflammation by targeting TLR4.

Int J Biol Sci 2019 22;15(11):2308-2319. Epub 2019 Aug 22.

Department of Clinical Veterinary Medicine, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, People's Republic of China. College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, 430070, People's Republic of China.

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http://dx.doi.org/10.7150/ijbs.33432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6775322PMC
August 2019

PIAS3-mediated feedback loops promote chronic colitis-associated malignant transformation.

Theranostics 2018 30;8(11):3022-3037. Epub 2018 Apr 30.

State Key Laboratory of Pharmaceutical Biotechnology, School of Life Sciences, Nanjing University, Nanjing, Jiangsu 210046, China.

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http://www.thno.org/v08p3022.htm
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http://dx.doi.org/10.7150/thno.23046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5996365PMC
July 2019

Ginsenoside Rb1 ameliorates Staphylococcus aureus-induced Acute Lung Injury through attenuating NF-κB and MAPK activation.

Microb Pathog 2019 Jul 4;132:302-312. Epub 2019 May 4.

Department of Clinical Veterinary Medicine, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, 430070, People's Republic of China. Electronic address:

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http://dx.doi.org/10.1016/j.micpath.2019.05.003DOI Listing
July 2019

3D Brochosomes-Like TiO /WO /BiVO Arrays as Photoanode for Photoelectrochemical Hydrogen Production.

Small 2019 Jul 4;15(28):e1900924. Epub 2019 Jun 4.

Shanghai Key Laboratory of Special Artificial Microstructure Materials and Technology, School of Physics Science and Engineering, Tongji University, Shanghai, 200092, P. R. China.

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http://dx.doi.org/10.1002/smll.201900924DOI Listing
July 2019

Green Tea Extract Ameliorates Ischemia-Induced Retinal Ganglion Cell Degeneration in Rats.

Oxid Med Cell Longev 2019 9;2019:8407206. Epub 2019 Jul 9.

Joint Shantou International Eye Center of Shantou University and the Chinese University of Hong Kong, Shantou, Guangdong, China.

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http://dx.doi.org/10.1155/2019/8407206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6652088PMC
July 2019

Antisense RNA Elements for Downregulating Expression.

Methods Mol Biol 2019 ;1927:23-35

School of Chemical, Materials and Biomedical Engineering, College of Engineering, University of Georgia, Athens, GA, USA.

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http://dx.doi.org/10.1007/978-1-4939-9142-6_3DOI Listing
June 2019

Development and validation of nomograms predicting survival in Chinese patients with triple negative breast cancer.

BMC Cancer 2019 Jun 6;19(1):541. Epub 2019 Jun 6.

Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Breast Tumor Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Yanjiang West Road 107#, Guangzhou, 510120, China.

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http://dx.doi.org/10.1186/s12885-019-5703-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555047PMC
June 2019

MiR-128 mediates negative regulation in Staphylococcus aureus induced inflammation by targeting MyD88.

Int Immunopharmacol 2019 May 22;70:135-146. Epub 2019 Feb 22.

Department of Clinical Veterinary Medicine, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, China. Electronic address:

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http://dx.doi.org/10.1016/j.intimp.2018.11.024DOI Listing
May 2019

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.

Am J Med Genet A 2019 May 7;179(5):803-807. Epub 2019 Mar 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.61074DOI Listing
May 2019

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.

Neurol Genet 2019 Apr 18;5(2):e565. Epub 2019 Apr 18.

Department of Neurology (C.S., J.S., C.Z., J. Lu, J.X., S. Luo, J. Lin), Huashan Hospital, Fudan University, Shanghai, China; Baylor Genetic Laboratories (Y.J., Z.N., M.L.L., M.W., R.E.P., H.M., Y.Y.), Houston, TX; Department of Radiology (Y.L.), Huashan Hospital, Fudan University; Department of Pathology (Y.W., M.G.), Huashan Hospital, Fudan University, Shanghai, China; Department of Biochemistry and Molecular Pharmacology (M.L., K.D., Y.-M.H.), Thomas Jefferson University, Philadelphia, PA; Department of Human Genetics (S.N.O., A.A.), University of Michigan Medical School, Ann Arbor, MI; Department of Pediatrics and Department of Obstetrics and Gynecology (S.L.), University of Hawaii School of Medicine, Honolulu, HI; Department of Medical Oncology and Therapeutics Research (T.P.S.), Division of Clinical Cancer Genetics, City of Hope National Medical Center, Duarte, CA; Department of Molecular and Human Genetics (P.L.M., A.L.M., L.E., S.R.L., Z.N., M.L.L., J.A.R., M.W., R.E.P., H.M., J.A.R., Y.Y., V.W.Z.), Baylor College of Medicine, Houston, TX; and AmCare Genomics Lab (V.W.Z.), Guangzhou, China.

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http://dx.doi.org/10.1212/NXG.0000000000000316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515944PMC
April 2019

MiR-19a mediates the negative regulation of the NF-κB pathway in lipopolysaccharide-induced endometritis by targeting TBK1.

Inflamm Res 2019 Mar 23;68(3):231-240. Epub 2019 Jan 23.

Department of Clinical Veterinary Medicine, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, 430070, People's Republic of China.

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http://link.springer.com/10.1007/s00011-019-01213-3
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http://dx.doi.org/10.1007/s00011-019-01213-3DOI Listing
March 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Microbial biomarkers of common tongue coatings in patients with gastric cancer.

Microb Pathog 2019 Feb 30;127:97-105. Epub 2018 Nov 30.

School of Medicine and Life Sciences, Nanjing University of Chinese Medicine, Nanjing, 210023, China. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08824010183122
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http://dx.doi.org/10.1016/j.micpath.2018.11.051DOI Listing
February 2019

The Effectiveness and Safety of Utilizing Mobile Phone-Based Programs for Rehabilitation After Lumbar Spinal Surgery: Multicenter, Prospective Randomized Controlled Trial.

JMIR Mhealth Uhealth 2019 02 20;7(2):e10201. Epub 2019 Feb 20.

Department of Orthopedics, 8th Affiliated Hospital of Sun Yat-sen University, Sun Yat-sen University, Shenzhen, China.

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http://mhealth.jmir.org/2019/2/e10201/
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http://dx.doi.org/10.2196/10201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6404639PMC
February 2019

Microbial production of small medicinal molecules and biologics: From nature to synthetic pathways.

Biotechnol Adv 2018 12 29;36(8):2219-2231. Epub 2018 Oct 29.

School of Chemical, Materials and Biomedical Engineering, College of Engineering, The University of Georgia, Athens, GA 30602, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S07349750183017
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http://dx.doi.org/10.1016/j.biotechadv.2018.10.009DOI Listing
December 2018

Opening of the CLC-3 chloride channel induced by dihydroartemisinin contributed to early apoptotic events in human poorly differentiated nasopharyngeal carcinoma cells.

J Cell Biochem 2018 11 1;119(11):9560-9572. Epub 2018 Sep 1.

Department of Pathology, Guangdong Provincial Hospital of Chinese Medicine, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, China.

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http://doi.wiley.com/10.1002/jcb.27274
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http://dx.doi.org/10.1002/jcb.27274DOI Listing
November 2018

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma.

Neurol Genet 2018 Aug 20;4(4):e248. Epub 2018 Jul 20.

Department of Molecular and Human Genetics (K.M., L.C.B., M.J., R.A.L., M.X., J.A.R., R.C., C.M.E., Y.Y., B.H.L., P.M.M., S.U.D.), Department of Neurology (J.J., D.V., P.M.M), and Department of Ophthalmology (R.A.L.), Baylor College of Medicine; Department of Pathology (G.N.F.), Department of Neuro-Oncology (M.P.-P.), and Department of Diagnostic Imaging (M.K.G.-M.), The University of Texas MD Anderson Cancer Center; Michael E. DeBakey VA Medical Center (P.M.M.); Baylor Genetics (C.M.E., Y.Y.); and Department of Medicine (S.U.D.), Baylor College of Medicine, Houston, TX.

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http://dx.doi.org/10.1212/NXG.0000000000000248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055357PMC
August 2018

Sensor-regulator and RNAi based bifunctional dynamic control network for engineered microbial synthesis.

Nat Commun 2018 08 2;9(1):3043. Epub 2018 Aug 2.

School of Chemical, Materials and Biomedical Engineering, College of Engineering, The University of Georgia, Athens, GA, 30602, USA.

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http://dx.doi.org/10.1038/s41467-018-05466-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6072776PMC
August 2018

Magnoflorine Ameliorates Lipopolysaccharide-Induced Acute Lung Injury via Suppressing NF-κB and MAPK Activation.

Front Pharmacol 2018 30;9:982. Epub 2018 Aug 30.

Department of Clinical Veterinary Medicine, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, China.

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http://dx.doi.org/10.3389/fphar.2018.00982DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125611PMC
August 2018

Vacuum induced transparency in metamaterials.

Opt Express 2018 Jul;26(15):19498-19512

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http://dx.doi.org/10.1364/OE.26.019498DOI Listing
July 2018

Does patient age affect the PPV of ACR BI-RADS Ultrasound categories 4 and 5 in the diagnostic setting?

Eur Radiol 2018 Jun 4;28(6):2492-2498. Epub 2018 Jan 4.

Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China.

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http://dx.doi.org/10.1007/s00330-017-5203-3DOI Listing
June 2018

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

Exploring the Promiscuity of Phenol Hydroxylase from Pseudomonas stutzeri OX1 for the Biosynthesis of Phenolic Compounds.

ACS Synth Biol 2018 05 18;7(5):1238-1243. Epub 2018 Apr 18.

School of Chemical, Materials and Biomedical Engineering, College of Engineering , The University of Georgia , Athens , Georgia 30602 , United States.

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http://dx.doi.org/10.1021/acssynbio.8b00067DOI Listing
May 2018

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.

Hum Genet 2018 Mar 19;137(3):257-264. Epub 2018 Mar 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.

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http://dx.doi.org/10.1007/s00439-018-1877-0DOI Listing
March 2018

Downregulation of TLR4 by miR-181a Provides Negative Feedback Regulation to Lipopolysaccharide-Induced Inflammation.

Front Pharmacol 2018 26;9:142. Epub 2018 Feb 26.

Department of Clinical Veterinary Medicine, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, China.

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http://dx.doi.org/10.3389/fphar.2018.00142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5834510PMC
February 2018

Investigation of the Synergetic Effect of Xylose Metabolic Pathways on the Production of Glutaric Acid.

ACS Synth Biol 2018 01 29;7(1):24-29. Epub 2017 Sep 29.

College of Engineering, The University of Georgia , Athens, Georgia 30602, United States.

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http://dx.doi.org/10.1021/acssynbio.7b00271DOI Listing
January 2018

Microbial production of branched-chain dicarboxylate 2-methylsuccinic acid via enoate reductase-mediated bioreduction.

Metab Eng 2018 01 4;45:1-10. Epub 2018 Jan 4.

College of Engineering, the University of Georgia, Athens, GA 30602, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967176173037
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http://dx.doi.org/10.1016/j.ymben.2017.11.007DOI Listing
January 2018

[Analysis of genotype and phenotype of SEC23B gene in a family affected with congenital dyserythropoietic anemia type II].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Dec;34(6):874-878

Bethune International Peace Hospital of PLA, Shijiazhuang, Hebei 050082, China. Email:

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2017.06.020DOI Listing
December 2017

Nuciferine Ameliorates Inflammatory Responses by Inhibiting the TLR4-Mediated Pathway in Lipopolysaccharide-Induced Acute Lung Injury.

Front Pharmacol 2017 21;8:939. Epub 2017 Dec 21.

Department of Clinical Veterinary Medicine, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, China.

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http://dx.doi.org/10.3389/fphar.2017.00939DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5742629PMC
December 2017

Engineering a bacterial platform for total biosynthesis of caffeic acid derived phenethyl esters and amides.

Metab Eng 2017 11 21;44:89-99. Epub 2017 Sep 21.

College of Engineering, The University of Georgia, Athens, GA 30602, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymben.2017.09.011DOI Listing
November 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Neoadjuvant everolimus plus letrozole versus fluorouracil, epirubicin and cyclophosphamide for ER-positive, HER2-negative breast cancer: study protocol for a randomized pilot trial.

Trials 2017 Oct 25;18(1):497. Epub 2017 Oct 25.

Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Breast Tumor Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Yanjiang West Road 107#, Guangzhou, 510120, China.

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http://dx.doi.org/10.1186/s13063-017-2228-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655944PMC
October 2017

Role of transforming growth factor-β1 in triple negative breast cancer patients.

Int J Surg 2017 Sep 25;45:72-76. Epub 2017 Jul 25.

Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Department of Breast Surgery, Breast Tumor Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China. Electronic address:

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http://dx.doi.org/10.1016/j.ijsu.2017.07.080DOI Listing
September 2017

Phenylsulfonylfuroxan NO-donor phenols: Synthesis and multifunctional activities evaluation.

Bioorg Med Chem 2017 08 15;25(16):4407-4413. Epub 2017 Jun 15.

College of Pharmacy, Xi'an Jiaotong University, No. 76 Yanta West Road, Xi'an, Shaanxi Province 710061, People's Republic of China. Electronic address:

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http://dx.doi.org/10.1016/j.bmc.2017.06.023DOI Listing
August 2017