Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs2279357

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs2279357

PubMed Link: 36075891

Variant Present in the following documents:

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

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A systematic review of common genetic variation and biological pathways in autism spectrum disorder.

Bmc Neuroscience

Rodriguez-Gomez, Diego Alejandro DA; Garcia-Guaqueta, Danna Paola DP; Charry-Sánchez, Jesús David JD; Sarquis-Buitrago, Elias E; Blanco, Mariana M; Velez-van-Meerbeke, Alberto A; Talero-Gutiérrez, Claudia C

Publication Date: 2021-10-09

Variant appearance in text: rs2279357

PubMed Link: 34627165

Variant Present in the following documents:

• 12868_2021_662_MOESM1_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: rs2279357

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

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Variant Alleles of the ESR1, PPARG, HMGA2, and MTHFR Genes Are Associated With Polycystic Ovary Syndrome Risk in a Chinese Population: A Case-Control Study.

Frontiers In Endocrinology

Jiao, Xianting X; Chen, Weiwei W; Zhang, Jun J; Wang, Weiye W; Song, Junjiao J; Chen, Dan D; Zhu, Wenting W; Shi, Yuhua Y; Yu, Xiaodan X

Publication Date: 2018

Variant appearance in text: rs2279357

PubMed Link: 30214429

Variant Present in the following documents:

• Main text
• fendo-09-00504.pdf

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1,25D3 prevents CD8(+)Tc2 skewing and asthma development through VDR binding changes to the Cyp11a1 promoter.

Nature Communications

Schedel, Michaela M; Jia, Yi Y; Michel, Sven S; Takeda, Katsuyuki K; Domenico, Joanne J; Joetham, Anthony A; Ning, Fangkun F; Strand, Matthew M; Han, Junyan J; Wang, Meiqin M; Lucas, Joseph J JJ; Vogelberg, Christian C; Kabesch, Michael M; O'Connor, Brian P BP; Gelfand, Erwin W EW

Publication Date: 2016-01-11

Variant appearance in text: rs2279357

PubMed Link: 26750596

Variant Present in the following documents:

• Main text
• ncomms10213.pdf

View BVdb publication page

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Genetic determinants of cocaine-associated agranulocytosis.

Bmc Research Notes

Buxton, Jane A JA; Omura, John J; Kuo, Margot M; Ross, Colin C; Tzemis, Despina D; Purssell, Roy R; Gardy, Jennifer J; Carleton, Bruce B

Publication Date: 2015-06-13

Variant appearance in text: rs2279357

PubMed Link: 26070312

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms in estrogen-related genes and the risk of breast cancer among Han Chinese women.

International Journal Of Molecular Sciences

Sun, Min-Ying MY; Du, Hong-Yan HY; Zhu, An-Na AN; Liang, Hui-Ying HY; de Garibay, Gorka Ruiz GR; Li, Fen-Xia FX; Li, Ming M; Yang, Xue-Xi XX

Publication Date: 2015-02-13

Variant appearance in text: rs2279357

PubMed Link: 25689428

Variant Present in the following documents:

• Main text
• ijms-16-04121.pdf

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Risk-association of CYP11A1 polymorphisms and breast cancer among Han Chinese women in Southern China.

International Journal Of Molecular Sciences

Sun, Minying M; Yang, Xuexi X; Ye, Changsheng C; Xu, Weiwen W; Yao, Guangyu G; Chen, Jun J; Li, Ming M

Publication Date: 2012

Variant appearance in text: rs2279357

PubMed Link: 22606018

Variant Present in the following documents:

• Main text
• ijms-13-04896.pdf

View BVdb publication page

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Risk-association of CYP11A1 polymorphisms and breast cancer among Han Chinese women in Southern China.

International Journal Of Molecular Sciences

Sun, Minying M; Yang, Xuexi X; Ye, Changsheng C; Xu, Weiwen W; Yao, Guangyu G; Chen, Jun J; Li, Ming M

Publication Date: 2012

Variant appearance in text: rs2279357

PubMed Link: 22606018

Variant Present in the following documents:

• Main text
• ijms-13-04896.pdf

View BVdb publication page

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Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer.

Breast Cancer Research : Bcr

Li, Jingmei J; Eriksson, Louise L; Humphreys, Keith K; Czene, Kamila K; Liu, Jianjun J; Tamimi, Rulla M RM; Lindström, Sara S; Hunter, David J DJ; Vachon, Celine M CM; Couch, Fergus J FJ; Scott, Christopher G CG; Lagiou, Pagona P; Hall, Per P

Publication Date: 2010

Variant appearance in text: rs2279357

PubMed Link: 20214802

Variant Present in the following documents:

• Main text
• bcr2488.pdf

View BVdb publication page

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Steroid biosynthesis and renal excretion in human essential hypertension: association with blood pressure and endogenous ouabain.

American Journal Of Hypertension

Tripodi, Grazia G; Citterio, Lorena L; Kouznetsova, Tatiana T; Lanzani, Chiara C; Florio, Monica M; Modica, Rossana R; Messaggio, Elisabetta E; Hamlyn, John M JM; Zagato, Laura L; Bianchi, Giuseppe G; Staessen, Jan A JA; Manunta, Paolo P

Publication Date: 2009-04

Variant appearance in text: rs2279357

PubMed Link: 19197249

Variant Present in the following documents:

• Main text

View BVdb publication page

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Haplotype analysis of CYP11A1 identifies promoter variants associated with breast cancer risk.

Cancer Research

Yaspan, Brian L BL; Breyer, Joan P JP; Cai, Qiuyin Q; Dai, Qi Q; Elmore, J Bradford JB; Amundson, Isaac I; Bradley, Kevin M KM; Shu, Xiao-Ou XO; Gao, Yu-Tang YT; Dupont, William D WD; Zheng, Wei W; Smith, Jeffrey R JR

Publication Date: 2007-06-15

Variant appearance in text: rs2279357

PubMed Link: 17575134

Variant Present in the following documents:

• Main text

View BVdb publication page

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