Varaico: Literature-Extracted Genetic Variants

Gene:CD38
Variant:p.R140W
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CD38

NM_001775.4:p.R140W

Associated Papers

Whole-exome sequencing identifies a CD38 variant in a Chinese family with hodgkin's lymphoma.

Chen X et al.

Annals of Hematology, 2026

A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.

Yuan Y et al.

Frontiers in Genetics, 2022

36159980 (PubMed )
Supplement: Table1.XLSX › SNP

Recurrent PDGFRB mutations in unicentric Castleman disease.

Li Z et al.

Leukemia, 2019

30607019 (PubMed )
Supplement: 41375_2018_323_MOESM5_ESM.xls › Table_S2

Oxytocin in animal models of autism spectrum disorder.

Peñagarikano O

Developmental Neurobiology, 2017

Expression and Regulatory Network Analysis of miR-140-3p, a New Potential Serum Biomarker for Autism Spectrum Disorder.

Cirnigliaro M et al.

Frontiers in Molecular Neuroscience, 2017

The CD38 genotype (rs1800561 (4693C>T): R140W) is associated with an increased risk of admission to the neonatal intensive care unit.

Enami N et al.

Early Human Development, 2015

A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma.

Ceroni F et al.

Autism Research : Official Journal of the International Society for Autism Research, 2014

Mouse models of mutations and variations in autism spectrum disorder-associated genes: mice expressing Caps2/Cadps2 copy number and alternative splicing variants.

Sadakata T et al.

International Journal of Environmental Research and Public Health, 2013

[CD38 and autism spectrum disorders].

Higashida H et al.

No to Hattatsu = Brain and Development, 2013

Social memory, amnesia, and autism: brain oxytocin secretion is regulated by NAD+ metabolites and single nucleotide polymorphisms of CD38.

Higashida H et al.

Neurochemistry International, 2012

Are retinoids potential therapeutic agents in disorders of social cognition including autism?

Ebstein RP et al.

Febs Letters, 2011

CD38 expression, function, and gene resequencing in a human lymphoblastoid cell line-based model system.

Hartman WR et al.

Leukemia & Lymphoma, 2010

Two genetic variants of CD38 in subjects with autism spectrum disorder and controls.

Munesue T et al.

Neuroscience Research, 2010

CD38 gene polymorphisms contribute to genetic susceptibility to B-cell chronic lymphocytic leukemia: evidence from two case-control studies in Polish Caucasians.

Jamroziak K et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2009

CD38 polymorphisms in Spanish patients with systemic lupus erythematosus.

González-Escribano MF et al.

Human Immunology, 2004

Autoimmunity to CD38 and GAD in Type I and Type II diabetes: CD38 and HLA genotypes and clinical phenotypes.

Antonelli A et al.

Diabetologia, 2002

Autoantibody response to CD38 in Caucasian patients with type 1 and type 2 diabetes: immunological and genetic characterization.

Mallone R et al.

Diabetes, 2001

A missense mutation in the CD38 gene, a novel factor for insulin secretion: association with Type II diabetes mellitus in Japanese subjects and evidence of abnormal function when expressed in vitro.

Yagui K et al.

Diabetologia, 1998

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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."