(Q53179674)

12 May 2018

title

Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7. (English)

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12 May 2018

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Paul Sharpe

6

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author name string

Piranit Nik Kantaputra

1

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12 May 2018

Saranya Thawanaphong

2

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12 May 2018

Witchapong Issarangporn

3

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12 May 2018

Phennapha Klangsinsirikul

4

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12 May 2018

Atsushi Ohazama

5

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12 May 2018

Chayarop Supanchart

7

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12 May 2018

language of work or name

English

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publication date

14 March 2012

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12 May 2018

American Journal of Medical Genetics

published in

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12 May 2018

volume

158A

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12 May 2018

issue

4

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12 May 2018

page(s)

909-916

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12 May 2018

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35264

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%2FAJMG.A.35264

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35264

Osteoclast diseases and dental abnormalities

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35264

Osteoclasts secrete non-bone derived signals that induce bone formation.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35264

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%2FAJMG.A.35264

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%2FAJMG.A.35264

Severe developmental bone phenotype in ClC-7 deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35264

Calcification in the stylohyoid ligament.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35264

Lrp4 modulates extracellular integration of cell signaling pathways in development

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35264

Opg, Rank, and Rankl in tooth development: co-ordination of odontogenesis and osteogenesis

21 January 2018

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Volume-sensitive chloride channels involved in apoptotic volume decrease and cell death.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35264

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35264

Severe malignant osteopetrosis caused by a GL gene mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35264

The mutational spectrum of human malignant autosomal recessive osteopetrosis

21 January 2018

1 reference

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Neurological aspects of osteopetrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35264

Malignant infantile osteopetrosis: otolaryngological complications and management.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35264

Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35264

Osteopetroses and immunodeficiencies in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35264

Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35264

Osteoclasts and odontoclasts: signaling pathways to development and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35264

Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35264

CLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and Physiology

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.35264

1 reference

12 May 2018

1 reference

12 May 2018