Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF11A
Variant:p.A192V
Back to variants list

TNFRSF11A

NM_003839.4:p.A192V

Associated Papers

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 polymorphisms in external apical root resorption and orthodontic tooth movements: A systematic review.

Andrade ALCÁ et al.

Korean Journal of Orthodontics, 2024

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

Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.

Bresadola L et al.

International Journal of Molecular Sciences, 2021

34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations

Association of RANK and RANKL gene polymorphism with survival and calcium levels in multiple myeloma.

Łacina P et al.

Molecular Carcinogenesis, 2021

Variants of genes encoding TNF receptors and ligands and proteins regulating TNF activation in familial multiple sclerosis.

Torre-Fuentes L et al.

Cns Neuroscience & Therapeutics, 2020

32951330 (PubMed )
Supplement: CNS-26-1178-s002.xlsx › Hoja1

Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor-mutant lung cancer.

Tode N et al.

Cancer Science, 2017

28294470 (PubMed )
Supplement: CAS-108-1263-s001.pdf

Prevalence of polymorphisms in OPG, RANKL and RANK as potential markers for Charcot arthropathy development.

Bruhn-Olszewska B et al.

Scientific Reports, 2017

Relationship Between RANK and RANKL Gene Polymorphisms with Osteoporosis in Rheumatoid Arthritis Patients.

Mohamed RH et al.

Genetic Testing and Molecular Biomarkers, 2016

The RANKL/RANK/OPG signal trail: significance of genetic polymorphisms in the etiology of postmenopausal osteoporosis.

Wolski H et al.

Ginekologia Polska, 2016

Polymorphisms in genes in the RANKL/RANK/OPG pathway are associated with bone mineral density at different skeletal sites in post-menopausal women.

Tu P 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, 2015

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.

Whyte MP et al.

Bone, 2014

Polymorphisms of genes encoding P2X7R, IL-1B, OPG and RANK in orthodontic-induced apical root resorption.

Pereira S et al.

Oral Diseases, 2014

Polymorphisms in the RANK/RANKL genes and their effect on bone specific prognosis in breast cancer patients.

Hein A et al.

Biomed Research International, 2014

Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.

Parcerisas A et al.

Journal of Alzheimer's Disease : Jad, 2014

25024348 (PubMed )
Supplement: sj-xls-6-alz-10.3233_jad-140891.xls › P1H

Analyses of RANK and RANKL in the post-GWAS context: functional evidence of vitamin D stimulation through a RANKL distal region.

Yoskovitz G et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2013

The association of RANK gene C421T and C575T polymorphisms with bone mineral density in postmenopausal Turkish women.

Işleten B et al.

Archives of Gynecology and Obstetrics, 2013

Association analyses suggest the effects of RANK and RANKL on age at menarche in Chinese women.

Pan R et al.

Climacteric : the Journal of the International Menopause Society, 2012

Genetic variations in the genes encoding receptor activator nuclear factor κ B (RANK), receptor activator nuclear factor κ B ligand (RANKL) and osteoprotegerin (OPG) in patients with psoriasis and psoriatic arthritis: a case-control study.

Assmann G et al.

The Journal of Dermatology, 2011

Genetic polymorphisms and other risk factors associated with bisphosphonate induced osteonecrosis of the jaw.

Katz J et al.

International Journal of Oral and Maxillofacial Surgery, 2011

Osteoprotegerin genetic polymorphisms and age of symptom onset in ankylosing spondylitis.

Huang CH et al.

Rheumatology (oxford, England), 2011

Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone.

Chung PY et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2010

Genetics of osteoporosis.

Ralston SH et al.

Endocrine Reviews, 2010

Genetic variations in genes encoding RANK, RANKL, and OPG in rheumatoid arthritis: a case-control study.

Assmann G et al.

The Journal of Rheumatology, 2010

Gene-gene interactions in RANK/RANKL/OPG system influence bone mineral density in postmenopausal women.

Zupan J et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2010

[Polymorphism of osteoprotegerin gene and osteoporosis in postmenopausal women].

Seremak-Mrozikiewicz A et al.

Ginekologia Polska, 2009

Identification of novel RANK polymorphisms and their putative association with low BMD among postmenopausal women.

Koh JM 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, 2007

Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation.

Elahi E et al.

Journal of Bone and Mineral Metabolism, 2007

Genetic susceptibility to hip arthroplasty failure--association with the RANK/OPG pathway.

Malik MH et al.

International Orthopaedics, 2006

Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men.

Hsu YH et al.

Human Genetics, 2006

Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.

Cho SM et al.

Human Immunology, 2004

Lack of mutations in the RANK gene in Spanish patients with Paget disease of bone.

Marco-Mingot M et al.

Clinical Genetics, 2001

Mutation screening of the TNFRSF11A gene encoding receptor activator of NF kappa B (RANK) in familial and sporadic Paget's disease of bone and osteosarcoma.

Sparks AB et al.

Calcified Tissue International, 2001

Association between osteoprotegerin (OPG), receptor activator of nuclear factor-kappaB (RANK), and RANK ligand (RANKL) gene polymorphisms and circulating OPG, soluble RANKL levels, and bone mineral density in Korean postmenopausal women.

Kim JG et al.

Menopause (new York, N.y.), 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."