Varaico: Literature-Extracted Genetic Variants

Gene:BMP2
Variant:p.S37A
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BMP2

NM_001200.4:p.S37A

Associated Papers

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.

Wu J et al.

Frontiers in Genetics, 2022

35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1

Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.

Ravasi G et al.

Genes, 2021

34828384 (PubMed )
Supplement: genes-12-01778-s001.zip › genes-1451461-supplementary.pdf

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › TSG

Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies.

Pope DH et al.

Journal of Clinical Medicine, 2020

Reactivation of a developmental Bmp2 signaling center is required for therapeutic control of the murine periosteal niche.

Salazar VS et al.

Elife, 2019

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

Two novel BMP-2 variants identified in patients with thoracic ossification of the ligamentum flavum.

Qu X et al.

European Journal of Human Genetics : Ejhg, 2017

Combined approach for finding susceptibility genes in DISH/chondrocalcinosis families: whole-genome-wide linkage and IBS/IBD studies.

Couto AR et al.

Human Genome Variation, 2017

Targeted next-generation sequencing reveals multiple deleterious variants in OPLL-associated genes.

Chen X et al.

Scientific Reports, 2016

27246988 (PubMed )
Supplement: srep26962-s1.pdf

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

Zou C et al.

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

PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population.

Liebrechts-Akkerman G et al.

International Journal of Legal Medicine, 2014

Association between BMP-2 and COL6A1 gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the cervical spine in Korean patients and family members.

Kim KH et al.

Genetics and Molecular Research : Gmr, 2014

Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency.

Breitfeld J et al.

Bmc Endocrine Disorders, 2013

Genetics and heritability of cervical spondylotic myelopathy and ossification of the posterior longitudinal ligament: results of a systematic review.

Wilson JR et al.

Spine, 2013

A single nucleotide polymorphism in the human bone morphogenetic protein-2 gene (109T > G) affects the Smad signaling pathway and the predisposition to ossification of the posterior longitudinal ligament of the spine.

Yan L et al.

Chinese Medical Journal, 2013

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.

Justice CM et al.

Nature Genetics, 2012

Identification of genes for bone mineral density variation by computational disease gene identification strategy.

Li GH et al.

Journal of Bone and Mineral Metabolism, 2011

Lack of association of bone morphogenetic protein 2 gene haplotypes with bone mineral density, bone loss, or risk of fractures in men.

Varanasi SS et al.

Journal of Osteoporosis, 2011

RUNX2 polymorphisms associated with OPLL and OLF in the Han population.

Liu Y et al.

Clinical Orthopaedics and Related Research, 2010

Linkage of three polymorphisms on chromosome 20p12 to ossification of the posterior longitudinal ligament of spine and its severity in Han Chinese patients.

Yan L et al.

Chinese Medical Journal, 2010

T allele at site 6007 of bone morphogenetic protein-4 gene increases genetic susceptibility to ossification of the posterior longitudinal ligament in male Chinese Han population.

Meng XL et al.

Chinese Medical Journal, 2010

Genetics of osteoporosis.

Ralston SH

Annals of the New York Academy of Sciences, 2010

Association of bone morphogenetic protein-2 gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the spine and its severity in Chinese patients.

Wang H et al.

European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society, 2008

Variation in the bone morphogenetic protein-2 gene: effects on fat and lean body mass in young and elderly women.

McGuigan F et al.

European Journal of Endocrinology, 2008

Variation in the BMP2 gene: bone mineral density and ultrasound in young adult and elderly women.

McGuigan FE et al.

Calcified Tissue International, 2007

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

Savas S et al.

Physiological Genomics, 2007

Genetic regulation of bone mass and susceptibility to osteoporosis.

Ralston SH et al.

Genes & Development, 2006

BMP-2 gene polymorphisms and osteoporosis: the Rotterdam Study.

Medici M et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2006

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

Polymorphisms in the bone morphogenetic protein 2 (BMP2) gene do not affect bone mineral density in white men or women.

Ichikawa S et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2006

Gene variants for osteoporosis and their pleiotropic effects in aging.

Ferrari SL et al.

Molecular Aspects of Medicine, 2005

Association between a variation in the phosphodiesterase 4D gene and bone mineral density.

Reneland RH et al.

Bmc Medical Genetics, 2005

Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.

Weese-Mayer DE et al.

American Journal of Medical Genetics. Part A, 2003

Linkage of osteoporosis to chromosome 20p12 and association to BMP2.

Styrkarsdottir U et al.

Plos Biology, 2003

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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."