Publications:

A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis.

Frontiers In Genetics

Kırkgöz, Tarık T; Özkan, Behzat B; Hazan, Filiz F; Acar, Sezer S; Nalbantoğlu, Özlem Ö; Özkaya, Beyhan B; Kulalı, Melike Ataseven MA; Gürsoy, Semra S; Ikegawa, Shiro S; Guo, Long L

Publication Date: 2022

Variant appearance in text: TNFRSF11A: 1301G>A

PubMed Link: 35812760

Variant Present in the following documents:

• Main text
• fgene-13-938814.pdf

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RANK receptor oligomerisation in the regulation of NFκB signalling.

Journal Of Molecular Endocrinology

Das, S S; Sepahi, I I; Duthie, A A; Clark, S S; Crockett, J C JC

Publication Date: 2014-08

Variant appearance in text: RANK: 1301G>A

PubMed Link: 24859969

Variant Present in the following documents:

• Main text
• JME140077.pdf

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Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.

American Journal Of Human Genetics

Guerrini, Matteo M MM; Sobacchi, Cristina C; Cassani, Barbara B; Abinun, Mario M; Kilic, Sara S SS; Pangrazio, Alessandra A; Moratto, Daniele D; Mazzolari, Evelina E; Clayton-Smith, Jill J; Orchard, Paul P; Coxon, Fraser P FP; Helfrich, Miep H MH; Crockett, Julie C JC; Mellis, David D; Vellodi, Ashok A; Tezcan, Ilhan I; Notarangelo, Luigi D LD; Rogers, Michael J MJ; Vezzoni, Paolo P; Villa, Anna A; Frattini, Annalisa A

Publication Date: 2008-07

Variant appearance in text:

PubMed Link: 18606301

Variant Present in the following documents:

• Main text

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