Publications:

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Identification of genetic susceptibility in preterm newborns with bronchopulmonary dysplasia by whole-exome sequencing: BIVM gene may play a role.

European Journal Of Pediatrics

Luo, Xi X; Zhao, Min M; Chen, Cheng C; Lin, Fengji F; Li, Xiaodong X; Huang, Haiyun H; Dou, Lei L; Feng, Jinxing J; Xiao, Shanqiu S; Liu, Dong D; He, Junli J; Yu, Jialin J

Publication Date: 2023-02-09

Variant appearance in text: rs12717991

PubMed Link: 36757497

Variant Present in the following documents:

• 431_2022_4779_MOESM1_ESM.xlsx, sheet 1

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: VDR: 147-166G>A; rs12717991

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

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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: rs12717991

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

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Serum 25-Hydroxy Vitamin D Levels and Association of Vitamin D Receptor Gene Polymorphisms in Vitiligo.

Journal Of Korean Medical Science

Kim, Tae-Eun TE; Kim, Su Kang SK; Shin, Min Kyung MK; Jeong, Ki-Heon KH; Lee, Mu-Hyoung MH

Publication Date: 2022-04-11

Variant appearance in text: rs12717991

PubMed Link: 35411730

Variant Present in the following documents:

• jkms-37-e110.pdf

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Association between Polymorphisms in Vitamin D Pathway-Related Genes, Vitamin D Status, Muscle Mass and Function: A Systematic Review.

Nutrients

Krasniqi, Ermira E; Boshnjaku, Arben A; Wagner, Karl-Heinz KH; Wessner, Barbara B

Publication Date: 2021-09-04

Variant appearance in text: rs12717991

PubMed Link: 34578986

Variant Present in the following documents:

• Main text
• nutrients-13-03109.pdf

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: VDR: 147-166G>A; rs12717991

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2
• CNR2-4-e1335-s003.xlsx, sheet 1

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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: rs12717991

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs12717991

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Association of STAT-3 rs1053004 and VDR rs11574077 With FOLFIRI-Related Gastrointestinal Toxicity in Metastatic Colorectal Cancer Patients.

Frontiers In Pharmacology

De Mattia, Elena E; Cecchin, Erika E; Montico, Marcella M; Labriet, Adrien A; Guillemette, Chantal C; Dreussi, Eva E; Roncato, Rossana R; Bignucolo, Alessia A; Buonadonna, Angela A; D'Andrea, Mario M; Coppola, Luigi L; Lonardi, Sara S; Lévesque, Eric E; Jonker, Derek D; Couture, Félix F; Toffoli, Giuseppe G

Publication Date: 2018

Variant appearance in text: rs12717991

PubMed Link: 29706892

Variant Present in the following documents:

• Main text
• fphar-09-00367.pdf

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Single-Nucleotide Polymorphisms in Vitamin D-Related Genes May Modify Vitamin D-Breast Cancer Associations.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

O'Brien, Katie M KM; Sandler, Dale P DP; Kinyamu, H Karimi HK; Taylor, Jack A JA; Weinberg, Clarice R CR

Publication Date: 2017-12

Variant appearance in text: rs12717991

PubMed Link: 28830874

Variant Present in the following documents:

• Main text

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: rs12717991

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Vitamin D Receptor Gene Polymorphisms Are Associated with Abdominal Visceral Adipose Tissue Volume and Serum Adipokine Concentrations but Not with Body Mass Index or Waist Circumference in African Americans: The Jackson Heart Study.

The Journal Of Nutrition

Khan, Rumana J RJ; Riestra, Pia P; Gebreab, Samson Y SY; Wilson, James G JG; Gaye, Amadou A; Xu, Ruihua R; Davis, Sharon K SK

Publication Date: 2016-08

Variant appearance in text: rs12717991

PubMed Link: 27358421

Variant Present in the following documents:

• Main text

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Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.

Plos One

Tamura, Mayuko M; Isojima, Tsuyoshi T; Kawashima, Minae M; Yoshida, Hideki H; Yamamoto, Keiko K; Kitaoka, Taichi T; Namba, Noriyuki N; Oka, Akira A; Ozono, Keiichi K; Tokunaga, Katsushi K; Kitanaka, Sachiko S

Publication Date: 2015

Variant appearance in text: rs12717991

PubMed Link: 26153892

Variant Present in the following documents:

• Main text

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Vitamin D Deficiency in Uygurs and Kazaks Is Associated with Polymorphisms in CYP2R1 and DHCR7/NADSYN1 Genes.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Xu, Xinjuan X; Mao, Jiangfeng J; Zhang, Mingchen M; Liu, Haiming H; Li, Haixia H; Lei, Hong H; Han, Lu L; Gao, Min M

Publication Date: 2015-07-07

Variant appearance in text: rs12717991

PubMed Link: 26149120

Variant Present in the following documents:

• Main text
• medscimonit-21-1960.pdf

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Systems biology-based analysis implicates a novel role for vitamin D metabolism in the pathogenesis of age-related macular degeneration.

Human Genomics

Morrison, Margaux A MA; Silveira, Alexandra C AC; Huynh, Nancy N; Jun, Gyungah G; Smith, Silvia E SE; Zacharaki, Fani F; Sato, Hajime H; Loomis, Stephanie S; Andreoli, Michael T MT; Adams, Scott M SM; Radeke, Monte J MJ; Jelcick, Austin S AS; Yuan, Yang Y; Tsiloulis, Aristoteles N AN; Chatzoulis, Dimitrios Z DZ; Silvestri, Giuliana G; Kotoula, Maria G MG; Tsironi, Evangelia E EE; Hollis, Bruce W BW; Chen, Rui R; Haider, Neena B NB; Miller, Joan W JW; Farrer, Lindsay A LA; Hageman, Gregory S GS; Kim, Ivana K IK; Schaumberg, Debra A DA; DeAngelis, Margaret M MM

Publication Date: 2011-10

Variant appearance in text: rs12717991

PubMed Link: 22155603

Variant Present in the following documents:

• Main text
• 1479-7364-5-6-538.pdf

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Genetic associations in the vitamin D receptor and colorectal cancer in African Americans and Caucasians.

Plos One

Kupfer, Sonia S SS; Anderson, Jeffrey R JR; Ludvik, Anton E AE; Hooker, Stanley S; Skol, Andrew A; Kittles, Rick A RA; Keku, Temitope O TO; Sandler, Robert S RS; Ruiz-Ponte, Clara C; Castellvi-Bel, Sergi S; Castells, Antoni A; Carracedo, Angel A; Ellis, Nathan A NA

Publication Date: 2011

Variant appearance in text: rs12717991

PubMed Link: 22046258

Variant Present in the following documents:

• Main text

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Maternal vitamin D receptor genetic variation contributes to infant birthweight among black mothers.

American Journal Of Medical Genetics. Part A

Swamy, Geeta K GK; Garrett, Melanie E ME; Miranda, Marie Lynn ML; Ashley-Koch, Allison E AE

Publication Date: 2011-06

Variant appearance in text: rs12717991

PubMed Link: 21548019

Variant Present in the following documents:

• Main text

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Overview of the Rapid Response data.

Genes And Immunity

Brown, W M WM; Pierce, J J JJ; Hilner, J E JE; Perdue, L H LH; Lohman, K K; Lu, L L; de Bakker, P I W PI; Irenze, K K; Ziaugra, L L; Mirel, D B DB; ,

Publication Date: 2009-12

Variant appearance in text: rs12717991

PubMed Link: 19956101

Variant Present in the following documents:

• Main text

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Analysis of SNPs and haplotypes in vitamin D pathway genes and renal cancer risk.

Plos One

Karami, Sara S; Brennan, Paul P; Rosenberg, Philip S PS; Navratilova, Marie M; Mates, Dana D; Zaridze, David D; Janout, Vladimir V; Kollarova, Helena H; Bencko, Vladimir V; Matveev, Vsevolod V; Szeszenia-Dabrowska, Neonila N; Holcatova, Ivana I; Yeager, Meredith M; Chanock, Stephen S; Menashe, Idan I; Rothman, Nathaniel N; Chow, Wong-Ho WH; Boffetta, Paolo P; Moore, Lee E LE

Publication Date: 2009-09-15

Variant appearance in text: rs12717991

PubMed Link: 19753122

Variant Present in the following documents:

• Main text

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Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus.

Plos Genetics

Weidinger, Stephan S; Gieger, Christian C; Rodriguez, Elke E; Baurecht, Hansjörg H; Mempel, Martin M; Klopp, Norman N; Gohlke, Henning H; Wagenpfeil, Stefan S; Ollert, Markus M; Ring, Johannes J; Behrendt, Heidrun H; Heinrich, Joachim J; Novak, Natalija N; Bieber, Thomas T; Krämer, Ursula U; Berdel, Dietrich D; von Berg, Andrea A; Bauer, Carl Peter CP; Herbarth, Olf O; Koletzko, Sibylle S; Prokisch, Holger H; Mehta, Divya D; Meitinger, Thomas T; Depner, Martin M; von Mutius, Erika E; Liang, Liming L; Moffatt, Miriam M; Cookson, William W; Kabesch, Michael M; Wichmann, H-Erich HE; Illig, Thomas T

Publication Date: 2008-08

Variant appearance in text: rs12717991

PubMed Link: 18846228

Variant Present in the following documents:

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