Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations (Q24310432)

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10 January 2020

title

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

1 reference

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TNFSF11-mediated signaling pathway

10 January 2020

main subject

1 reference

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:0071847

positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling

2 references

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:0071848

TNF receptor superfamily member 11a

1 reference

TNF superfamily member 11

1 reference

Colony stimulating factor 1

1 reference

tumor necrosis factor

1 reference

1 reference

3

1 reference

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10 January 2020

Michael J. Rogers

18

1 reference

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10 January 2020

Anna Villa

20

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10 January 2020

17

Luigi D Notarangelo

1 reference

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10 January 2020

Sara S Kilic

5

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ORCID Public Data File 2021

author name string

Matteo M Guerrini

1

1 reference

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Cristina Sobacchi

2

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Mario Abinun

4

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Alessandra Pangrazio

6

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Daniele Moratto

7

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Evelina Mazzolari

8

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Paul Orchard

10

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Fraser P Coxon

11

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Miep H Helfrich

12

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Julie C Crockett

13

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David Mellis

14

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Ashok Vellodi

15

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Ilhan Tezcan

16

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Paolo Vezzoni

19

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Annalisa Frattini

21

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Jill Clayton-Smith

9

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language of work or name

English

0 references

publication date

1 July 2008

1 reference

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American Journal of Human Genetics

10 January 2020

published in

1 reference

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10 January 2020

volume

83

1 reference

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issue

1

1 reference

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10 January 2020

page(s)

64-76

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Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans

10 January 2020

cites work

1 reference

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RANK is essential for osteoclast and lymph node development

19 March 2017

1 reference

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X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

19 March 2017

1 reference

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Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man

19 March 2017

1 reference

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Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443850

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443850

Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human

19 March 2017

1 reference

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OPGL is a key regulator of osteoclastogenesis, lymphocyte development and lymph-node organogenesis

19 March 2017

1 reference

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The molecular understanding of osteoclast differentiation

19 March 2017

1 reference

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Self-assembled RANK induces osteoclastogenesis ligand-independently.

27 September 2017

1 reference

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27 September 2017

1 reference

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Regulation of peripheral lymph node genesis by the tumor necrosis factor family member TRANCE

27 September 2017

1 reference

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Diverse roles of the tumor necrosis factor family member TRANCE in skeletal physiology revealed by TRANCE deficiency and partial rescue by a lymphocyte-expressed TRANCE transgene

27 September 2017

1 reference

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RANK signals from CD4(+)3(-) inducer cells regulate development of Aire-expressing epithelial cells in the thymic medulla

27 September 2017

1 reference

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The Dissection of Human Autosomal Recessive Osteopetrosis Identifies an Osteoclast-Poor Form due to RANKL Deficiency.

30 May 2018

1 reference

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Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.

29 November 2018

1 reference

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A novel method for efficient generation of transfected human osteoclasts.

29 November 2018

1 reference

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In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects

29 November 2018

1 reference

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Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443850

Detecting polymorphisms and mutations in candidate genes

29 November 2018

1 reference

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Functional identification of three receptor activator of NF-kappa B cytoplasmic motifs mediating osteoclast differentiation and function

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18606301

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A novel receptor activator of NF-kappaB (RANK) cytoplasmic motif plays an essential role in osteoclastogenesis by committing macrophages to the osteoclast lineage

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18606301

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18606301

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2008.06.015

2 references

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10 January 2020

1 reference

2 references

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10 January 2020

2 references