Publications:

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Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity.

Jbmr Plus

Turan, Serap S; Mumm, Steven S; Alavanda, Ceren C; Kaygusuz, Betul Sare BS; Gurpinar Tosun, Busra B; Arman, Ahmet A; Huskey, Margaret M; Guran, Tulay T; Duan, Shenghui S; Bereket, Abdullah A; Whyte, Michael P MP

Publication Date: 2022-08

Variant appearance in text: TNFRSF11A: R129C

PubMed Link: 35991533

Variant Present in the following documents:

• Main text
• JBM4-6-e10663.pdf

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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: 385C>T

PubMed Link: 35812760

Variant Present in the following documents:

• Main text
• fgene-13-938814.pdf

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RANKL biology: bone metabolism, the immune system, and beyond.

Inflammation And Regeneration

Ono, Takehito T; Hayashi, Mikihito M; Sasaki, Fumiyuki F; Nakashima, Tomoki T

Publication Date: 2020

Variant appearance in text: TNFRSF11A: 385C>T

PubMed Link: 32047573

Variant Present in the following documents:

• Main text
• 41232_2019_Article_111.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TNFRSF11A: R129C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Structure-based development of a receptor activator of nuclear factor-kappaB ligand (RANKL) inhibitor peptide and molecular basis for osteopetrosis.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Ta, Hai Minh HM; Nguyen, Giang Thi Tuyet GT; Jin, Hye Mi HM; Choi, Jongkeun J; Park, Hyejin H; Kim, Nacksung N; Hwang, Hye-Yeon HY; Kim, Kyeong Kyu KK

Publication Date: 2010-11-23

Variant appearance in text: RANK: R129C

PubMed Link: 21059944

Variant Present in the following documents:

• Main text

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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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