(Q34316363)

1 August 2017

title

Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis (English)

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1 August 2017

10

Christian Kubisch

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author name string

Alfredo Ramírez

1

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1 August 2017

Julia Faupel

2

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1 August 2017

Ingrid Goebel

3

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1 August 2017

Anne Stiller

4

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1 August 2017

Susanne Beyer

5

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1 August 2017

Christina Stöckle

6

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1 August 2017

Carola Hasan

7

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1 August 2017

Udo Bode

8

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1 August 2017

Uwe Kornak

9

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1 August 2017

publication date

1 May 2004

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1 August 2017

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1 August 2017

volume

23

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1 August 2017

issue

5

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1 August 2017

page(s)

471-476

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Physical and transcriptional map of the mouse Chromosome 10 proximal region syntenic to human 6q16-q21.

1 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

Promotion of G alpha i3 subunit down-regulation by GIPN, a putative E3 ubiquitin ligase that interacts with RGS-GAIP

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

The genetic transformation of bone biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

Osteopetrosis and osteoporosis: two sides of the same coin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

The mouse osteopetrotic grey-lethal mutation induces a defect in osteoclast maturation/function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

Bone resorption by osteoclasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

Bone and haematopoietic defects in mice lacking c-fos

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

The protein tyrosine kinase p60c-Src is not implicated in the pathogenesis of the human autosomal recessive form of osteopetrosis: a study of 13 children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

7 January 2021

Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

7 January 2021

Age and disease-related changes in the mineral of bone

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

7 January 2021

Retinal atrophy in osteopetrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

7 January 2021

Osteosclerosis, a recessive skeletal mutation on chromosome 19 in the mouse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

7 January 2021

The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

7 January 2021

Early VEP and ERG Evidence of Visual Dysfunction in Autosomal Recessive Osteopetrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

7 January 2021

Genetic localization and transmission of the mouse osteopetrotic grey-lethal mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20028

7 January 2021

Identifiers

DOI

10.1002/HUMU.20028

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1 August 2017

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