Varaico: Literature-Extracted Genetic Variants

Gene:VDR
Variant:p.I352I
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VDR

NM_000376.3:p.I352I

Associated Papers

The association of genetic variants VDR Taq I rs731236 and AMLEX rs946252 with dental caries susceptibility and severity in Egyptian children.

Mahmoud MA et al.

Gene, 2025

Genetic polymorphisms associated with periodontitis in Japanese populations: A comprehensive review of pathways, interactions, and clinical implications.

Ferrara E et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2025

Familial mast cell-mediated angioedema: Description of 4 families.

Sabaté-Brescó M et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2025

Genetic mutations in lymphocytic variant of hypereosinophilic syndrome: study of five siblings.

Walkenhorst M et al.

Frontiers in Medicine, 2025

41488087 (PubMed )
Supplement: Table_1.xlsx › Data

Genetic Testing as a Source of Information Driving Diagnosis and Therapeutic Plan in a Multidisciplinary Case.

Grippaudo C et al.

Bioengineering (basel, Switzerland), 2024

Association between Vitamin D Receptor Polymorphisms, Tight Junction Proteins and Clinical Features of Adult Patients with Atopic Dermatitis.

Grieco T et al.

Dermatology Practical & Conceptual, 2024

Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.

Buianova A et al.

Plos One, 2024

Genetic Architecture of Pregnancy Loss: Co-inheritance of Risk Factors in Bosnian Women.

Adler G et al.

Folia Biologica, 2023

Genetic susceptibility of bladder cancer in the Lebanese population.

Kourie HR et al.

Bmc Medical Genomics, 2022

36253817 (PubMed )
Supplement: 12920_2022_1372_MOESM1_ESM.xlsx › sheet_1

Association of vitamin D receptor gene TaqI polymorphism with Alzheimer's disease in a Southeastern European Caucasian population.

Dimitrakis E et al.

Experimental and Therapeutic Medicine, 2022

Association of Vitamin D Receptor Gene Polymorphisms With the Evolution of MODY Diabetes: Study in Tunisian Patients.

Guesmi A et al.

Biological Research for Nursing, 2021

Polymorphisms and haplotypes in VDR gene are associated with female idiopathic infertility.

Djurovic J et al.

Human Fertility (cambridge, England), 2020

Chronic Periodontitis and Immunity, Towards the Implementation of a Personalized Medicine: A Translational Research on Gene Single Nucleotide Polymorphisms (SNPs) Linked to Chronic Oral Dysbiosis in 96 Caucasian Patients.

Inchingolo F et al.

Biomedicines, 2020

Vitamin D Status in Russian Children and Adolescents: Contribution of Genetic and Exogenous Factors.

Kondratyeva EI et al.

Frontiers in Pediatrics, 2020

Vitamin D receptor (VDR) TaqI polymorphism, vitamin D and bone mineral density in patients with inflammatory bowel diseases.

Szymczak-Tomczak A et al.

Advances in Clinical and Experimental Medicine : Official Organ Wroclaw Medical University, 2019

Vitamin D receptor variants and uncontrolled asthma.

Hutchinson K et al.

European Annals of Allergy and Clinical Immunology, 2018

Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor.

Brar PC et al.

Case Reports in Endocrinology, 2017

Sequence analysis of four vitamin D family genes (VDR, CYP24A1, CYP27B1 and CYP2R1) in Vogt-Koyanagi-Harada (VKH) patients: identification of a potentially pathogenic variant in CYP2R1.

Al-Barry MA et al.

Bmc Ophthalmology, 2016

Role of vitamin D receptor gene polymorphisms in aplastic anemia: a case-control study from China.

Yu W et al.

International Journal of Laboratory Hematology, 2016

Vitamin D receptor gene TaqI and Apal polymorphisms and steroid responsiveness in childhood idiopathic nephrotic syndrome.

Al-Eisa AA et al.

International Journal of Nephrology and Renovascular Disease, 2016

Preliminary evaluation of exome sequencing to identify genetic markers of susceptibility to tuberculosis disease.

Duncan C et al.

Bmc Research Notes, 2015

Vitamin D receptor gene polymorphisms and type 1 diabetes mellitus in a Korean population.

Cheon CK et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2015

The influence of genetic variability and proinflammatory status on the development of bone disease in patients with Gaucher disease.

Gervas-Arruga J et al.

Plos One, 2015

Genetic polymorphisms of interleukin-1 alpha and the vitamin d receptor in mexican mestizo patients with intervertebral disc degeneration.

Cervin Serrano S et al.

International Journal of Genomics, 2014

IL6 and IL10 are genetic susceptibility factors of periodontal disease.

Scapoli L et al.

Dental Research Journal, 2012

Analysis of vitamin D receptor gene (VDR) polymorphisms in Turner syndrome patients.

Bianco B et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2012

Variants in ABCB1, TGFB1, and XRCC1 genes and susceptibility to viral hepatitis A infection in Mexican Americans.

Zhang L et al.

Hepatology (baltimore, Md.), 2012

Investigation of CTLA-4 and CD28 gene polymorphisms in patients with diabetes mellitus type 2 using PCR-RFLP in a Turkish population.

Uzer E et al.

The West Indian Medical Journal, 2010

Genetic risk factors for periodontitis in a Japanese population.

Kobayashi T et al.

Journal of Dental Research, 2009

Association of genetic polymorphisms in vitamin D receptor gene and susceptibility to sporadic prostate cancer.

Onen IH et al.

Experimental Biology and Medicine (maywood, N.j.), 2008

Association analysis of vitamin D receptor gene polymorphisms with bone mineral density in young women with Graves' disease.

Horst-Sikorska W et al.

Acta Biochimica Polonica, 2008

Association analysis of the polymorphisms of the VDR gene with bone mineral density and the occurrence of fractures.

Horst-Sikorska W et al.

Journal of Bone and Mineral Metabolism, 2007

Growth factor, cytokine, and vitamin D receptor polymorphisms and risk of benign prostatic hyperplasia in a community-based cohort of men.

Mullan RJ et al.

Urology, 2006

Detection of VDR gene ApaI and TaqI polymorphisms in patients with type 2 diabetes mellitus using PCR-RFLP method in a Turkish population.

Dilmec F et al.

Journal of Diabetes and Its Complications, 0

CORRELATIONS BETWEEN POLYMORPHISMS OF ESTROGEN 1, VITAMIN D RECEPTORS AND HORMONAL PROFILE IN INFERTILE MEN.

Vladoiu S et al.

Acta Endocrinologica (bucharest, Romania : 2005), 0

The Association of a Novel Identified VDR SNP With Prostate Cancer in African American Men.

Daremipouran MR et al.

Cancer Genomics & Proteomics, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."