Publications:

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A narrative review of precision medicine in neonatal sepsis: genetic and epigenetic factors associated with disease susceptibility.

Translational Pediatrics

Dai, Wenjuan W; Zhou, Wenhao W

Publication Date: 2023-04-29

Variant appearance in text: rs11168266

PubMed Link: 37181024

Variant Present in the following documents:

• Main text
• tp-12-04-749.pdf

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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: rs11168266

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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VDR Polymorphic Variants Are Related to Improvements in CRP and Disease Activity in Patients with Axial Spondyloarthritis That Undergo Anti-TNF Treatment.

Genes

Bugaj, Bartosz B; Wielińska, Joanna J; Świerkot, Jerzy J; Bogunia-Kubik, Katarzyna K; Górna, Katarzyna K

Publication Date: 2022-10-16

Variant appearance in text: rs11168266

PubMed Link: 36292758

Variant Present in the following documents:

• Main text
• genes-13-01873.pdf

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Peripheral vitamin D levels in ankylosing spondylitis: A systematic review and meta-analysis.

Frontiers In Medicine

Diao, Maohui M; Peng, Jun J; Wang, Daidong D; Wang, Hongbo H

Publication Date: 2022

Variant appearance in text: rs11168266

PubMed Link: 36091702

Variant Present in the following documents:

• Main text
• fmed-09-972586.pdf

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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: rs11168266

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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Vitamin D Receptor Is a Sepsis-Susceptibility Gene in Chinese Children.

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

He, Danni D; Lu, Xiuxiu X; Li, Wei W; Wang, Yuanyuan Y; Li, Ning N; Chen, Yuanmei Y; Zhang, Lipeng L; Niu, Wenquan W; Zhang, Qi Q

Publication Date: 2021-10-24

Variant appearance in text: rs11168266

PubMed Link: 34689148

Variant Present in the following documents:

• Main text
• medscimonit-27-e932518.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: rs11168266

PubMed Link: 34578986

Variant Present in the following documents:

• Main text
• nutrients-13-03109.pdf

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The Influence of Vitamin D Receptor Gene Polymorphisms in Spondyloarthritis.

International Journal Of Inflammation

Neves, Janisleya Silva Ferreira JSF; Visentainer, Jeane Eliete Laguila JEL; Reis, Denise Manjurma da Silva DMDS; Rocha Loures, Marco Antonio MA; Alves, Hugo Vicentin HV; Lara-Armi, Fernanda Formaggi FF; de Alencar, Josiane Bazzo JB; Valentin Zacarias, Joana Maira JM; Sell, Ana Maria AM

Publication Date: 2020

Variant appearance in text: rs11168266

PubMed Link: 33376592

Variant Present in the following documents:

• Main text
• IJI2020-8880879.pdf

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Polymorphic Variations in VDR Gene in Saudi Women with and Without Polycystic Ovary Syndrome (PCOS) and Significant Influence of Seven Polymorphic Sites on Anthropometric and Hormonal Parameters.

Journal Of Medical Biochemistry

Al Thomali, Arwa A; Daghestani, Maha H MH; Daghestani, Mazin H MH; Kaya, Namik N; Warsy, Arjumand A

Publication Date: 2018-12

Variant appearance in text: rs11168266

PubMed Link: 30584400

Variant Present in the following documents:

• Main text
• jomb-37-415.pdf

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: rs11168266

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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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: rs11168266

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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: rs11168266

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: rs11168266

PubMed Link: 27358421

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: rs11168266

PubMed Link: 21548019

Variant Present in the following documents:

• Main text

View BVdb publication page

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