Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. (Q50335960)

5 March 2018

http://europepmc.org/abstract/MED/17632511

title

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

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5 March 2018

http://europepmc.org/abstract/MED/17632511

author

Anna Villa

20

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http://europepmc.org/abstract/MED/17632511

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

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5 March 2018

http://europepmc.org/abstract/MED/17632511

Annalisa Frattini

2

Annalisa Frattini

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5 March 2018

http://europepmc.org/abstract/MED/17632511

author name string

Cristina Sobacchi

1

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http://europepmc.org/abstract/MED/17632511

Matteo M Guerrini

3

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http://europepmc.org/abstract/MED/17632511

Mario Abinun

4

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http://europepmc.org/abstract/MED/17632511

Alessandra Pangrazio

5

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http://europepmc.org/abstract/MED/17632511

Lucia Susani

6

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http://europepmc.org/abstract/MED/17632511

Robbert Bredius

7

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http://europepmc.org/abstract/MED/17632511

Grazia Mancini

8

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http://europepmc.org/abstract/MED/17632511

Andrew Cant

9

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http://europepmc.org/abstract/MED/17632511

Nick Bishop

10

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http://europepmc.org/abstract/MED/17632511

Peter Grabowski

11

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http://europepmc.org/abstract/MED/17632511

Chiara Messina

13

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http://europepmc.org/abstract/MED/17632511

Gabriella Errigo

14

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http://europepmc.org/abstract/MED/17632511

Fraser P Coxon

15

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http://europepmc.org/abstract/MED/17632511

Debbie I Scott

16

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http://europepmc.org/abstract/MED/17632511

Paolo Vezzoni

19

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5 March 2018

http://europepmc.org/abstract/MED/17632511

language of work or name

English

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publication date

15 July 2007

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5 March 2018

http://europepmc.org/abstract/MED/17632511

published in

Nature Genetics

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5 March 2018

http://europepmc.org/abstract/MED/17632511

volume

39

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5 March 2018

http://europepmc.org/abstract/MED/17632511

issue

8

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http://europepmc.org/abstract/MED/17632511

page(s)

960-962

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5 March 2018

http://europepmc.org/abstract/MED/17632511

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

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

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

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

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

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

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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

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

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

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7 January 2021

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

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7 January 2021

Identifiers

DOI

10.1038/NG2076

1 reference

5 March 2018

http://europepmc.org/abstract/MED/17632511

1 reference

5 March 2018