CLCN7 gene

Known as: CLCN7, ClC-7, OPTA2 
This gene plays a role in ion transport.

Topic mentions per year

Topic mentions per year

1998-2018
0246819982018

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2011
Highly Cited
2011
Osteoporotic fracture is a major cause of morbidity and mortality worldwide. Low bone mineral density (BMD) is a major… (More)
  • figure 1
  • figure 2
Is this relevant?
2010
2010
The "Osteopetroses" are genetic diseases whose clinical picture is caused by a defect in bone resorption by osteoclasts. Three… (More)
Is this relevant?
2009
2009
Here we report the identification of two different mutations in chloride channel 7 gene in two unrelated patients with autosomal… (More)
  • figure 1
  • figure 2
  • figure 3
  • table 1
  • figure 4
Is this relevant?
2007
2007
CONTEXT Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the chloride… (More)
Is this relevant?
2006
2006
CONTEXT Genetic factors are important determinants of bone mineral density (BMD). The fact that mutations in the ClC-7 chloride… (More)
Is this relevant?
2005
2005
UNLABELLED Here we show that a common polymorphism causing a valine to methionine amino acid substitution at codon 418 (V418M) in… (More)
Is this relevant?
Highly Cited
2003
Highly Cited
2003
UNLABELLED Among 94 osteopetrotic patients presenting with a severe clinical picture and diagnosed early in life, 12 bore… (More)
Is this relevant?
2002
2002
Osteopetrosis is a heterogeneous group of inherited disorders that includes a malignant autosomal recessive form, an intermediate… (More)
Is this relevant?
2002
2002
A 16-year-old male patient with type II autosomal dominant benign osteopetrosis (ADO) was genotyped and found to harbor a novel… (More)
  • table 1
  • figure 2
  • figure 1
  • figure 4
  • figure 3
Is this relevant?
1999
1999
The CLC family of voltage-gated chloride channels comprises nine members in mammals. CLCN6 and CLCN7 belong to a novel, poorly… (More)
Is this relevant?