(Q50335960)

5 March 2018

title

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

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5 March 2018

author

Anna Villa

20

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5 March 2018

Andrea Del Fattore

Andrea Del Fattore

12

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Michael J. Rogers

Michael J Rogers

18

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Anna Teti

Anna Teti

17

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Miep H Helfrich

21

Miep H Helfrich

1 reference

5 March 2018

Annalisa Frattini

2

Annalisa Frattini

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5 March 2018

author name string

Cristina Sobacchi

1

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5 March 2018

Matteo M Guerrini

3

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5 March 2018

Mario Abinun

4

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5 March 2018

Alessandra Pangrazio

5

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5 March 2018

Lucia Susani

6

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5 March 2018

Robbert Bredius

7

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5 March 2018

Grazia Mancini

8

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5 March 2018

Andrew Cant

9

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5 March 2018

Nick Bishop

10

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5 March 2018

Peter Grabowski

11

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5 March 2018

Chiara Messina

13

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5 March 2018

Gabriella Errigo

14

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5 March 2018

Fraser P Coxon

15

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5 March 2018

Debbie I Scott

16

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5 March 2018

Paolo Vezzoni

19

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5 March 2018

language of work or name

English

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publication date

15 July 2007

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5 March 2018

published in

Nature Genetics

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5 March 2018

volume

39

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5 March 2018

issue

8

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5 March 2018

page(s)

960-962

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5 March 2018

https://scigraph.springernature.com/pub.10.1038/ng2076

exact match

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cites work

Brain and bone damage in KARAP/DAP12 loss-of-function mice correlate with alterations in microglia and osteoclast lineages.

1 reference

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

21 January 2018

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

1 reference

7 January 2021

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis

1 reference

7 January 2021

The mutational spectrum of human malignant autosomal recessive osteopetrosis

1 reference

7 January 2021

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

1 reference

7 January 2021

Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement

1 reference

7 January 2021

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

1 reference

7 January 2021

Crystal structure of the TRANCE/RANKL cytokine reveals determinants of receptor-ligand specificity

1 reference

7 January 2021

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

1 reference

7 January 2021

Novel pycnodysostosis mouse model uncovers cathepsin K function as a potential regulator of osteoclast apoptosis and senescence

1 reference

7 January 2021

Transgenic mice overexpressing soluble osteoclast differentiation factor (sODF) exhibit severe osteoporosis

1 reference

7 January 2021

Osteoprotegerin and RANKL regulate bone resorption, density, geometry and strength

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG2076

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5 March 2018

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5 March 2018