Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF11A
Variant:p.H141Y
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TNFRSF11A

NM_003839.4:p.H141Y

Associated Papers

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

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

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

Bruhn-Olszewska B et al.

Scientific Reports, 2017

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

Whyte MP et al.

Bone, 2014

Genetics of Paget's disease of bone.

Ralston SH et al.

Current Osteoporosis Reports, 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

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Villa F et al.

Immunity & Ageing : I & A, 2014

25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1

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

Genetic polymorphism of the OPG gene associated with breast cancer.

Ney JT et al.

Bmc Cancer, 2013

A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease.

Gianfrancesco F et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2012

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

Genetic polymorphisms of OPG, RANK, and ESR1 and bone mineral density in Korean postmenopausal women.

Choi JY et al.

Calcified Tissue International, 2005

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

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