Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.V152A
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BMP4

NM_001202.6:p.V152A

Associated Papers

Interactions Between BMP2/BMP4 Gene Polymorphisms and Fluoride Exposure on Essential Hypertension: A Cross-Sectional Study in China.

Gao Y et al.

Toxics, 2025

Genetic polymorphisms as potential pharmacogenetic biomarkers for platinum-based chemotherapy in non-small cell lung cancer.

Sito H et al.

Molecular Biology Reports, 2024

Genetics of otosclerosis: finally catching up with other complex traits?

Tavernier LJM et al.

Human Genetics, 2022

Association of BMP4 rs17563 Polymorphism with Nonsyndromic Cleft Lip with or without Cleft Palate Risk: Literature Review and Comprehensive Meta-Analysis.

Bahrami R et al.

Fetal and Pediatric Pathology, 2021

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM15_ESM.xlsx › Supplementary_Data_12

Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.

Greer C et al.

Human Reproduction (oxford, England), 2021

Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Xing D et al.

Bmc Ophthalmology, 2020

33302902 (PubMed )
Supplement: 12886_2020_1711_MOESM1_ESM.xlsx › RawData

A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Gatticchi L et al.

Bmc Medical Genetics, 2020

32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

Marini NJ et al.

American Journal of Medical Genetics. Part A, 2019

31063268 (PubMed )
Supplement: AJMG-179-1260-s007.xlsx › Table_S4

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

Plasticity of Drug-Naïve and Vemurafenib- or Trametinib-Resistant Melanoma Cells in Execution of Differentiation/Pigmentation Program.

Czyz M et al.

Journal of Oncology, 2019

31354817 (PubMed )
Supplement: 1697913.f1.pdf

Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia.

Vidya NG et al.

Ophthalmic Genetics, 2018

The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.

Williams MA et al.

Genes, 2018

Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation.

Sannan NS et al.

Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2017

BMP4 rs17563 polymorphism and nonsyndromic cleft lip with or without cleft palate: A meta-analysis.

Li YH et al.

Medicine, 2017

Tooth agenesis and orofacial clefting: genetic brothers in arms?

Phan M et al.

Human Genetics, 2016

27699475 (PubMed )
Supplement: 439_2016_1733_MOESM4_ESM.xlsx › Table_Candidate_Gene_Mutations

Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis.

Salvi A et al.

International Journal of Molecular Medicine, 2016

The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Lim CH et al.

Oncotarget, 2016

27175599 (PubMed )
Supplement: oncotarget-07-39758-s006.xlsx › TableS5

A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population.

de Araujo TK et al.

Journal of Cranio-maxillo-facial Surgery : Official Publication of the European Association for Cranio-maxillo-facial Surgery, 2016

Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing.

Liu YP et al.

Medicina Oral, Patologia Oral Y Cirugia Bucal, 2015

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyA

[BMP2/BMP4 genetic evaluation in 40 patients with tooth agenesis].

Zou C et al.

Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, 2015

The association between BMP4 gene polymorphism and its serum level with the incidence of LVH in hypertensive patients.

Gu GL et al.

Journal of Translational Medicine, 2015

Association between BMP4 rs17563 polymorphism and NSCL/P risk: a meta-analysis.

Hu YY et al.

Disease Markers, 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

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain

Genetic association for caries susceptibility among cleft lip and/or palate individuals.

Antunes LS et al.

The Journal of Contemporary Dental Practice, 2014

BMP-4 genetic variants and protein expression are associated with platinum-based chemotherapy response and prognosis in NSCLC.

Xian S et al.

Biomed Research International, 2014

RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPs.

Sabarinathan R et al.

Human Mutation, 2013

23315997 (PubMed )
Supplement: humu0034-0546-SD1.pdf

Association of BMPR1A polymorphism, but not BMP4, with kidney size in full-term newborns.

Kaczmarczyk M et al.

Pediatric Nephrology (berlin, Germany), 2013

Anorectal atresia and variants at predicted regulatory sites in candidate genes.

Carter TC et al.

Annals of Human Genetics, 2013

Phenotype characterization and sequence analysis of BMP2 and BMP4 variants in two Mexican families with oligodontia.

Mu Y et al.

Genetics and Molecular Research : Gmr, 2012

Common genetic variants of the BMP4, BMPR1A, BMPR1B, and ACVR1 genes, left ventricular mass, and other parameters of the heart in newborns.

Gorący I et al.

Genetic Testing and Molecular Biomarkers, 2012

Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population.

Rodriguez-Flores JL et al.

Plos One, 2012

Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate.

Araújo TK et al.

Plastic Surgery International, 2012

Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.

Jimenez NL et al.

Bmc Medical Genetics, 2011

Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population.

Suazo J et al.

Bmc Medical Genetics, 2011

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.

Reis LM et al.

Human Genetics, 2011

Evaluation of germline BMP4 mutation as a cause of colorectal cancer.

Lubbe SJ et al.

Human Mutation, 2011

Single nucleotide polymorphisms in the Wnt and BMP pathways and colorectal cancer risk in a Spanish cohort.

Fernández-Rozadilla C et al.

Plos One, 2010

Association between bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in a chilean population.

Suazo J et al.

Dna and Cell Biology, 2010

Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.

Zhang X et al.

Molecular Vision, 2009

A predicted functional single-nucleotide polymorphism of bone morphogenetic protein-4 gene affects mRNA expression and shows a significant association with cutaneous melanoma in Southern Italian population.

Capasso M et al.

Journal of Cancer Research and Clinical Oncology, 2009

Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.

Suzuki S et al.

American Journal of Human Genetics, 2009

Association of bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in Chinese children.

Lin JY et al.

Dna and Cell Biology, 2008

Functional nonsynonymous single nucleotide polymorphisms from the TGF-beta protein interaction network.

Savas S et al.

Physiological Genomics, 2007

Single-nucleotide polymorphisms and haplotypes of bone morphogenetic protein genes and peripheral bone mineral density in young Korean men and women.

Choi JY et al.

Calcified Tissue International, 2006

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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."