Publications:

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Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Plos One

Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y

Publication Date: 2022

Variant appearance in text: MYH9: 1554+7A>G; rs3752462

PubMed Link: 36350814

Variant Present in the following documents:

• pone.0276233.s004.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs3752462

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs3752462

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Bmc Medical Genomics

Li, Qiong Q; Wang, Shujuan S; Liang, Pengfei P; Li, Wei W; Wang, Jian J; Fan, Bei B; Yang, Yang Y; An, Xiaogang X; Chen, Jun J; Zha, Dingjun D

Publication Date: 2022-07-21

Variant appearance in text: MYH9: 1554+7A>G; rs3752462

PubMed Link: 35864542

Variant Present in the following documents:

• 12920_2022_1315_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies.

Kidney International

Gorski, Mathias M; Rasheed, Humaira H; Teumer, Alexander A; Thomas, Laurent F LF; Graham, Sarah E SE; Sveinbjornsson, Gardar G; Winkler, Thomas W TW; Günther, Felix F; Stark, Klaus J KJ; Chai, Jin-Fang JF; Tayo, Bamidele O BO; Wuttke, Matthias M; Li, Yong Y; Tin, Adrienne A; Ahluwalia, Tarunveer S TS; Ärnlöv, Johan J; Åsvold, Bjørn Olav BO; Bakker, Stephan J L SJL; Banas, Bernhard B; Bansal, Nisha N; Biggs, Mary L ML; Biino, Ginevra G; Böhnke, Michael M; Boerwinkle, Eric E; Bottinger, Erwin P EP; Brenner, Hermann H; Brumpton, Ben B; Carroll, Robert J RJ; Chaker, Layal L; Chalmers, John J; Chee, Miao-Li ML; Chee, Miao-Ling ML; Cheng, Ching-Yu CY; Chu, Audrey Y AY; Ciullo, Marina M; Cocca, Massimiliano M; Cook, James P JP; Coresh, Josef J; Cusi, Daniele D; de Borst, Martin H MH; Degenhardt, Frauke F; Eckardt, Kai-Uwe KU; Endlich, Karlhans K; Evans, Michele K MK; Feitosa, Mary F MF; Franke, Andre A; Freitag-Wolf, Sandra S; Fuchsberger, Christian C; Gampawar, Piyush P; Gansevoort, Ron T RT; Ghanbari, Mohsen M; Ghasemi, Sahar S; Giedraitis, Vilmantas V; Gieger, Christian C; Gudbjartsson, Daniel F DF; Hallan, Stein S; Hamet, Pavel P; Hishida, Asahi A; Ho, Kevin K; Hofer, Edith E; Holleczek, Bernd B; Holm, Hilma H; Hoppmann, Anselm A; Horn, Katrin K; Hutri-Kähönen, Nina N; Hveem, Kristian K; Hwang, Shih-Jen SJ; Ikram, M Arfan MA; Josyula, Navya Shilpa NS; Jung, Bettina B; Kähönen, Mika M; Karabegović, Irma I; Khor, Chiea-Chuen CC; Koenig, Wolfgang W; Kramer, Holly H; Krämer, Bernhard K BK; Kühnel, Brigitte B; Kuusisto, Johanna J; Laakso, Markku M; Lange, Leslie A LA; Lehtimäki, Terho T; Li, Man M; Lieb, Wolfgang W; , ; Lind, Lars L; Lindgren, Cecilia M CM; Loos, Ruth J F RJF; Lukas, Mary Ann MA; Lyytikäinen, Leo-Pekka LP; Mahajan, Anubha A; Matias-Garcia, Pamela R PR; Meisinger, Christa C; Meitinger, Thomas T; Melander, Olle O; Milaneschi, Yuri Y; Mishra, Pashupati P PP; Mononen, Nina N; Morris, Andrew P AP; Mychaleckyj, Josyf C JC; Nadkarni, Girish N GN; Naito, Mariko M; Nakatochi, Masahiro M; Nalls, Mike A MA; Nauck, Matthias M; Nikus, Kjell K; Ning, Boting B; Nolte, Ilja M IM; Nutile, Teresa T; O'Donoghue, Michelle L ML; O'Connell, Jeffrey J; Olafsson, Isleifur I; Orho-Melander, Marju M; Parsa, Afshin A; Pendergrass, Sarah A SA; Penninx, Brenda W J H BWJH; Pirastu, Mario M; Preuss, Michael H MH; Psaty, Bruce M BM; Raffield, Laura M LM; Raitakari, Olli T OT; Rheinberger, Myriam M; Rice, Kenneth M KM; Rizzi, Federica F; Rosenkranz, Alexander R AR; Rossing, Peter P; Rotter, Jerome I JI; Ruggiero, Daniela D; Ryan, Kathleen A KA; Sabanayagam, Charumathi C; Salvi, Erika E; Schmidt, Helena H; Schmidt, Reinhold R; Scholz, Markus M; Schöttker, Ben B; Schulz, Christina-Alexandra CA; Sedaghat, Sanaz S; Shaffer, Christian M CM; Sieber, Karsten B KB; Sim, Xueling X; Sims, Mario M; Snieder, Harold H; Stanzick, Kira J KJ; Thorsteinsdottir, Unnur U; Stocker, Hannah H; Strauch, Konstantin K; Stringham, Heather M HM; Sulem, Patrick P; Szymczak, Silke S; Taylor, Kent D KD; Thio, Chris H L CHL; Tremblay, Johanne J; Vaccargiu, Simona S; van der Harst, Pim P; van der Most, Peter J PJ; Verweij, Niek N; Völker, Uwe U; Wakai, Kenji K; Waldenberger, Melanie M; Wallentin, Lars L; Wallner, Stefan S; Wang, Judy J; Waterworth, Dawn M DM; White, Harvey D HD; Willer, Cristen J CJ; Wong, Tien-Yin TY; Woodward, Mark M; Yang, Qiong Q; Yerges-Armstrong, Laura M LM; Zimmermann, Martina M; Zonderman, Alan B AB; Bergler, Tobias T; Stefansson, Kari K; Böger, Carsten A CA; Pattaro, Cristian C; Köttgen, Anna A; Kronenberg, Florian F; Heid, Iris M IM

Publication Date: 2022-09

Variant appearance in text: rs3752462

PubMed Link: 35716955

Variant Present in the following documents:

• NIHMS1841277-supplement-1.pdf

View BVdb publication page

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An early prediction model for chronic kidney disease.

Scientific Reports

Zhao, Jing J; Zhang, Yuan Y; Qiu, Jiali J; Zhang, Xiaodan X; Wei, Fengjiang F; Feng, Jiayi J; Chen, Chen C; Zhang, Kai K; Feng, Shuzhi S; Li, Wei-Dong WD

Publication Date: 2022-02-17

Variant appearance in text: rs3752462

PubMed Link: 35177746

Variant Present in the following documents:

• Main text
• 41598_2022_Article_6665.pdf

View BVdb publication page

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Mechanisms of Proteinuria in HIV.

Frontiers In Medicine

Hall, Gentzon G; Wyatt, Christina M CM

Publication Date: 2021

Variant appearance in text: rs3752462

PubMed Link: 34722586

Variant Present in the following documents:

• Main text
• fmed-08-749061.pdf

View BVdb publication page

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Association of the myosin heavy chain 9 gene single nucleotide polymorphism with inflammatory bowel disease.

Biochemistry And Biophysics Reports

Abd Al-Aliem, Ahmed Ezz El-Arab AEE; Badr, Eman A E EAE; El-Shayeb, Elsayed Ibrahem EI; Taman, Ahmed Megahed Ahmed AMA; Gadallah, Abd El-Naser Abd El-Atty AEAE

Publication Date: 2021-12

Variant appearance in text: rs3752462

PubMed Link: 34604548

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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SNPs at 3'UTR of APOL1 and miR-6741-3p target sites associated with kidney diseases more susceptible to SARS-COV-2 infection: in silco and in vitro studies.

Mammalian Genome : Official Journal Of The International Mammalian Genome Society

Safdar, Muhammad M; Khan, Muhammad Sajjad MS; Karim, Abdulkarim Yasin AY; Omar, Shwan Ali SA; Smail, Shukur Wasman SW; Saeed, Muhammad M; Zaheer, Sana S; Ali, Mazhar M; Ahmad, Bilal B; Tasleem, Muhammad M; Junejo, Yasmeen Y

Publication Date: 2021-10

Variant appearance in text: rs3752462

PubMed Link: 34089082

Variant Present in the following documents:

• Main text
• 335_2021_Article_9880.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: MYH9: 1554+7A>G; rs3752462

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs3752462

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Intratumoral heterogeneity as a predictive biomarker in anti-PD-(L)1 therapies for non-small cell lung cancer.

Molecular Cancer

Fang, Wenfeng W; Jin, Haoxuan H; Zhou, Huaqiang H; Hong, Shaodong S; Ma, Yuxiang Y; Zhang, Yaxiong Y; Su, Xiaofan X; Chen, Longyun L; Yang, Yunpeng Y; Xu, Shengqiang S; Liao, Yuwei Y; He, Yuming Y; Zhao, Hongyun H; Huang, Yan Y; Gao, Zhibo Z; Zhang, Li L

Publication Date: 2021-02-23

Variant appearance in text: MYH9: 1554+7A>G

PubMed Link: 33622313

Variant Present in the following documents:

• 12943_2021_1331_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Effect of donor non-muscle myosin heavy chain (MYH9) gene polymorphisms on clinically relevant kidney allograft dysfunction.

Bmc Nephrology

Pazik, Joanna J; Oldak, Monika M; Oziębło, Dominika D; Materkowska, Dominika Dęborska DD; Sadowska, Anna A; Malejczyk, Jacek J; Durlik, Magdalena M

Publication Date: 2020-09-01

Variant appearance in text: rs3752462

PubMed Link: 32873246

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of MYH9-rs3752462 polymorphisms with chronic kidney disease among clinically diagnosed hypertensive patients: a case-control study in a Ghanaian population.

Clinical Hypertension

Owiredu, William K B A WKBA; Appiah, Michael M; Obirikorang, Christian C; Adu, Evans Asamoah EA; Boima, Vincent V; Amos-Abanyie, Ernestine Kubi EK; Akyaw, Priscilla Abena PA; Owiredu, Eddie-Williams EW; Acheampong, Emmanuel E

Publication Date: 2020

Variant appearance in text: rs3752462

PubMed Link: 32765897

Variant Present in the following documents:

• Main text
• 40885_2020_Article_148.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: MYH9: 1554+7A>G; rs3752462

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs3752462

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Novel Haplotype Indicator for End-Stage Renal Disease Progression among Saudi Patients.

International Journal Of Nephrology

Cyrus, Cyril C; Chathoth, Shahanas S; Vatte, Chittibabu C; Alrubaish, Nafie N; Almuhanna, Othman O; Borgio, J Francis JF; Al-Mueilo, Samir S; Al Muhanna, Fahd F; Al Ali, Amein K AK

Publication Date: 2019

Variant appearance in text: rs3752462

PubMed Link: 31534799

Variant Present in the following documents:

• Main text
• IJN2019-1095215.pdf

View BVdb publication page

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MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy.

Clinical Kidney Journal

Fernandez-Prado, Raul R; Carriazo-Julio, Sol Maria SM; Torra, Roser R; Ortiz, Alberto A; Perez-Gomez, María Vanessa MV

Publication Date: 2019-08

Variant appearance in text: rs3752462

PubMed Link: 31384439

Variant Present in the following documents:

• Main text
• sfz103.pdf

View BVdb publication page

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MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cells.

Bmc Medical Genomics

Suzuki, Akiko A; Li, Aimin A; Gajera, Mona M; Abdallah, Nada N; Zhang, Musi M; Zhao, Zhongming Z; Iwata, Junichi J

Publication Date: 2019-07-01

Variant appearance in text: rs3752462

PubMed Link: 31262291

Variant Present in the following documents:

• 12920_2019_546_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic and Epigenetic Studies in Diabetic Kidney Disease.

Frontiers In Genetics

Gu, Harvest F HF

Publication Date: 2019

Variant appearance in text: rs3752462

PubMed Link: 31231424

Variant Present in the following documents:

• Main text
• fgene-10-00507.pdf

View BVdb publication page

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Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Nature Communications

Takata, Atsushi A; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Mizuguchi, Takeshi T; Mitsuhashi, Satomi S; Takahashi, Yukitoshi Y; Okamoto, Nobuhiko N; Osaka, Hitoshi H; Nakamura, Kazuyuki K; Tohyama, Jun J; Haginoya, Kazuhiro K; Takeshita, Saoko S; Kuki, Ichiro I; Okanishi, Tohru T; Goto, Tomohide T; Sasaki, Masayuki M; Sakai, Yasunari Y; Miyake, Noriko N; Miyatake, Satoko S; Tsuchida, Naomi N; Iwama, Kazuhiro K; Minase, Gaku G; Sekiguchi, Futoshi F; Fujita, Atsushi A; Imagawa, Eri E; Koshimizu, Eriko E; Uchiyama, Yuri Y; Hamanaka, Kohei K; Ohba, Chihiro C; Itai, Toshiyuki T; Aoi, Hiromi H; Saida, Ken K; Sakaguchi, Tomohiro T; Den, Kouhei K; Takahashi, Rina R; Ikeda, Hiroko H; Yamaguchi, Tokito T; Tsukamoto, Kazuki K; Yoshitomi, Shinsaku S; Oboshi, Taikan T; Imai, Katsumi K; Kimizu, Tomokazu T; Kobayashi, Yu Y; Kubota, Masaya M; Kashii, Hirofumi H; Baba, Shimpei S; Iai, Mizue M; Kira, Ryutaro R; Hara, Munetsugu M; Ohta, Masayasu M; Miyata, Yohane Y; Miyata, Rie R; Takanashi, Jun-Ichi JI; Matsui, Jun J; Yokochi, Kenji K; Shimono, Masayuki M; Amamoto, Masano M; Takayama, Rumiko R; Hirabayashi, Shinichi S; Aiba, Kaori K; Matsumoto, Hiroshi H; Nabatame, Shin S; Shiihara, Takashi T; Kato, Mitsuhiro M; Matsumoto, Naomichi N

Publication Date: 2019-06-07

Variant appearance in text: MYH9: 1554+7A>G

PubMed Link: 31175295

Variant Present in the following documents:

• 41467_2019_10482_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: MYH9: 1554+7A>G; rs3752462

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs3752462

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: MYH9: 1554+7A>G; rs3752462

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Association between MYH9 and APOL1 Gene Polymorphisms and the Risk of Diabetic Kidney Disease in Patients with Type 2 Diabetes in a Chinese Han Population.

Journal Of Diabetes Research

Zhao, Hailing H; Ma, Liang L; Yan, Meihua M; Wang, Yan Y; Zhao, Tingting T; Zhang, Haojun H; Liu, Peng P; Liu, Yanzhen Y; Li, Ping P

Publication Date: 2018

Variant appearance in text: rs3752462

PubMed Link: 29862302

Variant Present in the following documents:

• Main text
• JDR2018-5068578.pdf

View BVdb publication page

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Assessing known chronic kidney disease associated genetic variants in Saudi Arabian populations.

Bmc Nephrology

Cyrus, Cyril C; Al-Mueilo, Samir S; Vatte, Chittibabu C; Chathoth, Shahanas S; Li, Yun R YR; Qutub, Hatem H; Al Ali, Rudaynah R; Al-Muhanna, Fahad F; Lanktree, Matthew B MB; Alkharsah, Khaled Riyad KR; Al-Rubaish, Abdullah A; Kim-Mozeleski, Brian B; Keating, Brendan B; Al Ali, Amein A

Publication Date: 2018-04-17

Variant appearance in text: rs3752462

PubMed Link: 29665793

Variant Present in the following documents:

• Main text
• 12882_2018_Article_890.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs3752462

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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A Population-Based Study of Effects of Genetic Loci on Orofacial Clefts.

Journal Of Dental Research

Moreno Uribe, L M LM; Fomina, T T; Munger, R G RG; Romitti, P A PA; Jenkins, M M MM; Gjessing, H K HK; Gjerdevik, M M; Christensen, K K; Wilcox, A J AJ; Murray, J C JC; Lie, R T RT; Wehby, G L GL

Publication Date: 2017-10

Variant appearance in text: rs3752462

PubMed Link: 28662356

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hypertension in the Pediatric Kidney Transplant Recipient.

Frontiers In Pediatrics

Charnaya, Olga O; Moudgil, Asha A

Publication Date: 2017

Variant appearance in text: rs3752462

PubMed Link: 28507980

Variant Present in the following documents:

• Main text
• fped-05-00086.pdf

View BVdb publication page

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Diabetic kidney disease.

Nature Reviews. Disease Primers

Thomas, Merlin C MC; Brownlee, Michael M; Susztak, Katalin K; Sharma, Kumar K; Jandeleit-Dahm, Karin A M KA; Zoungas, Sophia S; Rossing, Peter P; Groop, Per-Henrik PH; Cooper, Mark E ME

Publication Date: 2015-07-30

Variant appearance in text: rs3752462

PubMed Link: 27188921

Variant Present in the following documents:

• Main text

View BVdb publication page

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TOX and CDKN2A/B Gene Polymorphisms Are Associated with Type 2 Diabetes in Han Chinese.

Scientific Reports

Wei, Fengjiang F; Cai, Chunyou C; Feng, Shuzhi S; Lv, Jia J; Li, Shen S; Chang, Baocheng B; Zhang, Hong H; Shi, Wentao W; Han, Hongling H; Ling, Chao C; Yu, Ping P; Chen, Yongjun Y; Sun, Ning N; Tian, Jianli J; Jiao, Hongxiao H; Yang, Fuhua F; Li, Mingshan M; Wang, Yuhua Y; Zou, Lei L; Su, Long L; Li, Jingbo J; Li, Ran R; Qiu, Huina H; Shi, Jingmin J; Liu, Shiying S; Chang, Mingqin M; Lin, Jingna J; Chen, Liming L; Li, Wei-Dong WD

Publication Date: 2015-07-03

Variant appearance in text: rs3752462

PubMed Link: 26139146

Variant Present in the following documents:

• Main text
• srep11900.pdf

View BVdb publication page

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African origins and chronic kidney disease susceptibility in the human immunodeficiency virus era.

World Journal Of Nephrology

Kasembeli, Alex N AN; Duarte, Raquel R; Ramsay, Michèle M; Naicker, Saraladevi S

Publication Date: 2015-05-06

Variant appearance in text: rs3752462

PubMed Link: 25949944

Variant Present in the following documents:

• Main text

View BVdb publication page

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Developments in renal pharmacogenomics and applications in chronic kidney disease.

Pharmacogenomics And Personalized Medicine

Padullés, Ariadna A; Rama, Inés I; Llaudó, Inés I; Lloberas, Núria N

Publication Date: 2014

Variant appearance in text: rs3752462

PubMed Link: 25206311

Variant Present in the following documents:

• Main text
• pgpm-7-251.pdf

View BVdb publication page

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MYH9 and APOL1 gene polymorphisms and the risk of CKD in patients with lupus nephritis from an admixture population.

Plos One

Colares, Vinícius Sardão VS; Titan, Silvia Maria de Oliveira SM; Pereira, Alexandre da Costa Ada C; Malafronte, Patrícia P; Cardena, Mari M MM; Santos, Sidney S; Santos, Paulo C PC; Fridman, Cíntia C; Barros, Rui Toledo RT; Woronik, Viktória V

Publication Date: 2014

Variant appearance in text: rs3752462

PubMed Link: 24658608

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evaluation of candidate nephropathy susceptibility genes in a genome-wide association study of African American diabetic kidney disease.

Plos One

Palmer, Nicholette D ND; Ng, Maggie C Y MC; Hicks, Pamela J PJ; Mudgal, Poorva P; Langefeld, Carl D CD; Freedman, Barry I BI; Bowden, Donald W DW

Publication Date: 2014

Variant appearance in text: rs3752462

PubMed Link: 24551085

Variant Present in the following documents:

• Main text
• pone.0088273.pdf

View BVdb publication page

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APOL1 risk variants, race, and progression of chronic kidney disease.

The New England Journal Of Medicine

Parsa, Afshin A; Kao, W H Linda WH; Xie, Dawei D; Astor, Brad C BC; Li, Man M; Hsu, Chi-yuan CY; Feldman, Harold I HI; Parekh, Rulan S RS; Kusek, John W JW; Greene, Tom H TH; Fink, Jeffrey C JC; Anderson, Amanda H AH; Choi, Michael J MJ; Wright, Jackson T JT; Lash, James P JP; Freedman, Barry I BI; Ojo, Akinlolu A; Winkler, Cheryl A CA; Raj, Dominic S DS; Kopp, Jeffrey B JB; He, Jiang J; Jensvold, Nancy G NG; Tao, Kaixiang K; Lipkowitz, Michael S MS; Appel, Lawrence J LJ; , ; ,

Publication Date: 2013-12-05

Variant appearance in text: rs3752462

PubMed Link: 24206458

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Polymorphisms in the non-muscle myosin heavy chain gene (MYH9) are associated with lower glomerular filtration rate in mixed ancestry diabetic subjects from South Africa.

Plos One

Matsha, Tandi Edith TE; Masconi, Katya K; Yako, Yandiswa Yolanda YY; Hassan, Mogamat Shafick MS; Macharia, Muiriri M; Erasmus, Rajiv Timothy RT; Kengne, Andre Pascal AP

Publication Date: 2012

Variant appearance in text: rs3752462

PubMed Link: 23285077

Variant Present in the following documents:

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Genetic variation in APOL1 and MYH9 genes is associated with chronic kidney disease among Nigerians.

International Urology And Nephrology

Tayo, Bamidele O BO; Kramer, Holly H; Salako, Babatunde L BL; Gottesman, Omri O; McKenzie, Colin A CA; Ogunniyi, Adesola A; Bottinger, Erwin P EP; Cooper, Richard S RS

Publication Date: 2013-04

Variant appearance in text: rs3752462

PubMed Link: 22956460

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• Main text

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Apolipoprotein L1 gene variants associate with hypertension-attributed nephropathy and the rate of kidney function decline in African Americans.

Kidney International

Lipkowitz, Michael S MS; Freedman, Barry I BI; Langefeld, Carl D CD; Comeau, Mary E ME; Bowden, Donald W DW; Kao, W H Linda WH; Astor, Brad C BC; Bottinger, Erwin P EP; Iyengar, Sudha K SK; Klotman, Paul E PE; Freedman, Richard G RG; Zhang, Weijia W; Parekh, Rulan S RS; Choi, Michael J MJ; Nelson, George W GW; Winkler, Cheryl A CA; Kopp, Jeffrey B JB; ,

Publication Date: 2013-01

Variant appearance in text: rs3752462

PubMed Link: 22832513

Variant Present in the following documents:

• Main text
• nihms387629.pdf

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Role of MYH9 and APOL1 in African and non-African populations with lupus nephritis.

Genes And Immunity

Lin, C P CP; Adrianto, I I; Lessard, C J CJ; Kelly, J A JA; Kaufman, K M KM; Guthridge, J M JM; Freedman, B I BI; Anaya, J-M JM; Alarcón-Riquelme, M E ME; , ; Pons-Estel, B A BA; Martin, J J; Glenn, S S; Adler, A A; Bae, S-C SC; Park, S-Y SY; Bang, S-Y SY; Song, Y-W YW; Boackle, S A SA; Brown, E E EE; Edberg, J C JC; Alarcón, G S GS; Petri, M A MA; Criswell, L A LA; Ramsey-Goldman, R R; Reveille, J D JD; Vila, L M LM; Gilkeson, G S GS; Kamen, D L DL; Ziegler, J J; Jacob, C O CO; Rasmussen, A A; James, J A JA; Kimberly, R P RP; Merrill, J T JT; Niewold, T B TB; Scofield, R H RH; Stevens, A M AM; Tsao, B P BP; Vyse, T J TJ; Langefeld, C D CD; Moser, K L KL; Harley, J B JB; Gaffney, P M PM; Montgomery, C G CG

Publication Date: 2012-04

Variant appearance in text: rs3752462

PubMed Link: 22189356

Variant Present in the following documents:

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Polymorphisms in MYH9 are associated with diabetic nephropathy in European Americans.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Cooke, Jessica N JN; Bostrom, Meredith A MA; Hicks, Pamela J PJ; Ng, Maggie C Y MC; Hellwege, Jacklyn N JN; Comeau, Mary E ME; Divers, Jasmin J; Langefeld, Carl D CD; Freedman, Barry I BI; Bowden, Donald W DW

Publication Date: 2012-04

Variant appearance in text: rs3752462

PubMed Link: 21968013

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MYH9 genetic variants associated with glomerular disease: what is the role for genetic testing?

Seminars In Nephrology

Kopp, Jeffrey B JB; Winkler, Cheryl A CA; Nelson, George W GW

Publication Date: 2010-07

Variant appearance in text: rs3752462

PubMed Link: 20807613

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A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9.

Kidney International

Genovese, Giulio G; Tonna, Stephen J SJ; Knob, Andrea U AU; Appel, Gerald B GB; Katz, Avi A; Bernhardy, Andrea J AJ; Needham, Alexander W AW; Lazarus, Ross R; Pollak, Martin R MR

Publication Date: 2010-10

Variant appearance in text: rs3752462

PubMed Link: 20668430

Variant Present in the following documents:

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Association of trypanolytic ApoL1 variants with kidney disease in African Americans.

Science (New York, N.Y.)

Genovese, Giulio G; Friedman, David J DJ; Ross, Michael D MD; Lecordier, Laurence L; Uzureau, Pierrick P; Freedman, Barry I BI; Bowden, Donald W DW; Langefeld, Carl D CD; Oleksyk, Taras K TK; Uscinski Knob, Andrea L AL; Bernhardy, Andrea J AJ; Hicks, Pamela J PJ; Nelson, George W GW; Vanhollebeke, Benoit B; Winkler, Cheryl A CA; Kopp, Jeffrey B JB; Pays, Etienne E; Pollak, Martin R MR

Publication Date: 2010-08-13

Variant appearance in text: rs3752462

PubMed Link: 20647424

Variant Present in the following documents:

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Worldwide distribution of the MYH9 kidney disease susceptibility alleles and haplotypes: evidence of historical selection in Africa.

Plos One

Oleksyk, Taras K TK; Nelson, George W GW; An, Ping P; Kopp, Jeffrey B JB; Winkler, Cheryl A CA

Publication Date: 2010-07-09

Variant appearance in text: rs3752462

PubMed Link: 20634883

Variant Present in the following documents:

• Main text
• pone.0011474.pdf

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Candidate genes for non-diabetic ESRD in African Americans: a genome-wide association study using pooled DNA.

Human Genetics

Bostrom, Meredith A MA; Lu, Lingyi L; Chou, Jeff J; Hicks, Pamela J PJ; Xu, Jianzhao J; Langefeld, Carl D CD; Bowden, Donald W DW; Freedman, Barry I BI

Publication Date: 2010-08

Variant appearance in text: rs3752462

PubMed Link: 20532800

Variant Present in the following documents:

• Main text

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The non-muscle Myosin heavy chain 9 gene (MYH9) is not associated with lupus nephritis in African Americans.

American Journal Of Nephrology

Freedman, Barry I BI; Edberg, Jeffrey C JC; Comeau, Mary E ME; Murea, Mariana M; Bowden, Donald W DW; Divers, Jasmin J; Alarcón, Graciela S GS; Brown, Elizabeth E EE; McGwin, Gerald G; Kopp, Jeffrey B JB; Winkler, Cheryl A CA; Nelson, George W GW; Illei, Gabor G; Petri, Michelle M; Ramsey-Goldman, Rosalind R; Reveille, John D JD; Vilá, Luis M LM; Langefeld, Carl D CD; Kimberly, Robert P RP; ,

Publication Date: 2010

Variant appearance in text: rs3752462

PubMed Link: 20523037

Variant Present in the following documents:

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Association of polymorphisms in the klotho gene with severity of non-diabetic ESRD in African Americans.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Bostrom, Meredith A MA; Hicks, Pamela J PJ; Lu, Lingyi L; Langefeld, Carl D CD; Freedman, Barry I BI; Bowden, Donald W DW

Publication Date: 2010-10

Variant appearance in text: rs3752462

PubMed Link: 20466664

Variant Present in the following documents:

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Genetics of focal segmental glomerulosclerosis and human immunodeficiency virus-associated collapsing glomerulopathy: the role of MYH9 genetic variation.

Seminars In Nephrology

Winkler, Cheryl A CA; Nelson, George G; Oleksyk, Taras K TK; Nava, M Berenice MB; Kopp, Jeffrey B JB

Publication Date: 2010-03

Variant appearance in text: rs3752462

PubMed Link: 20347641

Variant Present in the following documents:

• Main text

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Is there a genetic basis for health disparities in human immunodeficiency virus disease?

The Mount Sinai Journal Of Medicine, New York

Winkler, Cheryl C

Publication Date: 2010

Variant appearance in text: rs3752462

PubMed Link: 20309925

Variant Present in the following documents:

• Main text

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The spectrum of MYH9-associated nephropathy.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Bostrom, Meredith A MA; Freedman, Barry I BI

Publication Date: 2010-06

Variant appearance in text: rs3752462

PubMed Link: 20299374

Variant Present in the following documents:

• Main text

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African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans.

Human Molecular Genetics

Behar, Doron M DM; Rosset, Saharon S; Tzur, Shay S; Selig, Sara S; Yudkovsky, Guennady G; Bercovici, Sivan S; Kopp, Jeffrey B JB; Winkler, Cheryl A CA; Nelson, George W GW; Wasser, Walter G WG; Skorecki, Karl K

Publication Date: 2010-05-01

Variant appearance in text: rs3752462

PubMed Link: 20144966

Variant Present in the following documents:

• Main text
• ddq040.pdf

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