Publications:

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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: rs2010457

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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: rs2010457

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs2010457

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs2010457

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

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Tau phosphorylation pathway genes and cerebrospinal fluid tau levels in Alzheimer's disease.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Bekris, Lynn M LM; Millard, Steve S; Lutz, Franziska F; Li, Gail G; Galasko, Doug R DR; Farlow, Martin R MR; Quinn, Joseph F JF; Kaye, Jeffrey A JA; Leverenz, James B JB; Tsuang, Debby W DW; Yu, Chang-En CE; Peskind, Elaine R ER

Publication Date: 2012-10

Variant appearance in text: rs2010457

PubMed Link: 22927204

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in the tau protein phosphatase-2A pathway is not associated with Alzheimer's disease risk.

Bmc Research Notes

Vázquez-Higuera, José L JL; Mateo, Ignacio I; Sánchez-Juan, Pascual P; Rodríguez-Rodríguez, Eloy E; Pozueta, Ana A; Calero, Miguel M; Dobato, José L JL; Frank-García, Ana A; Valdivieso, Fernando F; Berciano, José J; Bullido, Maria J MJ; Combarros, Onofre O

Publication Date: 2011-09-07

Variant appearance in text: rs2010457

PubMed Link: 21899770

Variant Present in the following documents:

• Main text
• 1756-0500-4-327.pdf

View BVdb publication page

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A PIN1 polymorphism that prevents its suppression by AP4 associates with delayed onset of Alzheimer's disease.

Neurobiology Of Aging

Ma, Suk Ling SL; Tang, Nelson Leung Sang NL; Tam, Cindy Woon Chi CW; Lui, Victor Wing Cheong VW; Lam, Linda Chiu Wa LC; Chiu, Helen Fung Kum HF; Driver, Jane Ann JA; Pastorino, Lucia L; Lu, Kun Ping KP

Publication Date: 2012-04

Variant appearance in text: rs2010457

PubMed Link: 20580132

Variant Present in the following documents:

• Main text

View BVdb publication page

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PIN1 gene variants in Alzheimer's disease.

Bmc Medical Genetics

Maruszak, Aleksandra A; Safranow, Krzysztof K; Gustaw, Katarzyna K; Kijanowska-Haładyna, Beata B; Jakubowska, Katarzyna K; Olszewska, Maria M; Styczyńska, Maria M; Berdyński, Mariusz M; Tysarowski, Andrzej A; Chlubek, Dariusz D; Siedlecki, Janusz J; Barcikowska, Maria M; Zekanowski, Cezary C

Publication Date: 2009-11-12

Variant appearance in text: rs2010457

PubMed Link: 19909517

Variant Present in the following documents:

• Main text
• 1471-2350-10-115.pdf

View BVdb publication page

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A novel functional variant (-842G>C) in the PIN1 promoter contributes to decreased risk of squamous cell carcinoma of the head and neck by diminishing the promoter activity.

Carcinogenesis

Lu, Jiachun J; Hu, Zhibin Z; Wei, Sheng S; Wang, Li-E LE; Liu, Zhensheng Z; El-Naggar, Adel K AK; Sturgis, Erich M EM; Wei, Qingyi Q

Publication Date: 2009-10

Variant appearance in text: rs2010457

PubMed Link: 19625347

Variant Present in the following documents:

• Main text

View BVdb publication page

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