(Q37438527)

English

A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle

scientific article published on 23 October 2013

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scholarly article

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Europe PubMed Central

PMC publication ID

20 August 2017

A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle (English)

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

object named as

Tobias Stauber

2

0 references

Carole Charlier

object named as

Carole Charlier

11

0 references

object named as

Tom Druet

6

0 references

object named as

Thomas J Jentsch

10

0 references

Wouter Coppieters

3

object named as

Wouter Coppieters

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

author name string

Arnaud Sartelet

1

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Carmen F Ludwig

4

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Corinne Fasquelle

5

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Zhiyan Zhang

7

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Naima Ahariz

8

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Nadine Cambisano

9

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

publication date

23 October 2013

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Disease Models & Mechanisms

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Europe PubMed Central

PMC publication ID

20 August 2017

7

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

1

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

119-128

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

copyright license

Creative Commons Attribution 3.0 Unported

18 May 2021

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Cell biology and physiology of CLC chloride channels and transporters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

SLC4A2-mediated Cl-/HCO3- exchange activity is essential for calpain-dependent regulation of the actin cytoskeleton in osteoclasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

Chloride in vesicular trafficking and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

SIFT web server: predicting effects of amino acid substitutions on proteins

1 reference

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23 August 2017

A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory response

1 reference

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23 August 2017

Pervasive multinucleotide mutational events in eukaryotes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

Integrative genomics viewer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

CDD: a Conserved Domain Database for the functional annotation of proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

Structure of a Eukaryotic CLC Transporter Defines an Intermediate State in the Transport Cycle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

The G215R Mutation in the Cl−/H+-Antiporter ClC-7 Found in ADO II Osteopetrosis Does Not Abolish Function but Causes a Severe Trafficking Defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

A deletion mutation in bovine SLC4A2 is associated with osteopetrosis in Red Angus cattle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

A hidden markov model combining linkage and linkage disequilibrium information for haplotype reconstruction and quantitative trait locus fine mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

Targeted capture and massively parallel sequencing of 12 human exomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

HCO3-/Cl- anion exchanger SLC4A2 is required for proper osteoclast differentiation and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

Highly effective SNP-based association mapping and management of recessive defects in livestock

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

Complications during gestation in the cow.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

Neurological aspects of osteopetrosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

Bone resorption by osteoclasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

23 August 2017

Sorting Motifs of the Endosomal/Lysosomal CLC Chloride Transporters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

14 September 2017

Mutational analysis demonstrates that ClC-4 and ClC-5 directly mediate plasma membrane currents.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

28 September 2017

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

28 September 2017

Common gating of both CLC transporter subunits underlies voltage-dependent activation of the 2Cl-/1H+ exchanger ClC-7/Ostm1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

26 June 2018

A cation counterflux supports lysosomal acidification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

26 June 2018

The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

26 June 2018

CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

2 September 2018

Rapid gene identification in a Chinese osteopetrosis family by whole exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

2 September 2018

Ancestral haplotype-based association mapping with generalized linear mixed models accounting for stratification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

2 September 2018

Allelic heterogeneity of Crooked Tail Syndrome: result of balancing selection?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

2 September 2018

ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

2 September 2018

Distinct neuropathologic phenotypes after disrupting the chloride transport proteins ClC-6 or ClC-7/Ostm1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

2 September 2018

Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

2 September 2018

Lysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

2 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882054

3 December 2018

Malignant infantile osteopetrosis: dental effects in paediatric patients. Case reports

1 reference

https://pubmed.ncbi.nlm.nih.gov/24159188

12 December 2020

based on heuristic

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In situ measurement of the electrical potential across the lysosomal membrane using FRET

1 reference

https://pubmed.ncbi.nlm.nih.gov/24159188

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/24159188

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biophysical properties of ClC-3 differentiate it from swelling-activated chloride channels in Chinese hamster ovary-K1 cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/24159188

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1242/DMM.012500

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

ResearchGate publication ID

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