(Q86217985)

English

Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients

scientific article published on 22 September 2015

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scholarly article

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24 February 2020

Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395888%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

author name string

Q Pang

1

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24 February 2020

Y Chi

2

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24 February 2020

Z Zhao

3

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24 February 2020

X Xing

4

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24 February 2020

M Li

5

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24 February 2020

O Wang

6

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24 February 2020

Y Jiang

7

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24 February 2020

R Liao

8

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24 February 2020

Y Sun

9

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24 February 2020

J Dong

10

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24 February 2020

W Xia

11

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24 February 2020

publication date

22 September 2015

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24 February 2020

Osteoporosis International

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24 February 2020

27

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24 February 2020

3

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24 February 2020

1047-1055

1 reference

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PubMed publication ID

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24 February 2020

https://scigraph.springernature.com/pub.10.1007/s00198-015-3320-x

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type II benign osteopetrosis (Albers-Schönberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II).

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteopetrosis, hypophosphatemia, and phosphaturia in a young man: a case presentation and differential diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transmembrane topology of a CLC chloride channel

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Report of two Chinese patients suffering from CLCN7-related osteopetrosis and root dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prostaglandin E2 activates outwardly rectifying Cl(-) channels via a cAMP-dependent pathway and reduces cell motility in rat osteoclasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis).

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intracellular chloride channels: determinants of function in the endosomal pathway.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Outwardly rectifying chloride current in rabbit osteoclasts is activated by hyposmotic stimulation

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of two novel CLCN7 gene mutations in three Chinese families with autosomal dominant osteopetrosis type II.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/26395888

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00198-015-3320-X

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395888%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395888%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

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