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ATP6V0A2 gene

Known as: TJ6, J6B7, Vph1 
National Institutes of Health

Related topics

Related topics

3 relations
ATP6V0A1 geneATP6V0A4 geneOsteopetrosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities
Coexistence of different hereditary diseases is a known phenomenon in populations with a high consanguinity rate. The resulting… 
2016
2016
A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.
2011
2011
Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients
Infantile malignant osteopetrosis (IMO) (OMIM 259700) is a lethal autosomal recessive disease. The underlying gene in most IMO… 
2008
2008
Functional genomics of monensin sensitivity in yeast: implications for post-Golgi traffic and vacuolar H+-ATPase function
We have screened a complete collection of yeast knockout mutants for sensitivity to monensin, an ionophore that interferes with… 
Highly Cited
2002
Highly Cited
2002
Novel mutations in the a3 subunit of vacuolar H(+)-adenosine triphosphatase in a Japanese patient with infantile malignant osteopetrosis.
2001
2001
Formation of non‐resorbing osteoclasts from peripheral blood mononuclear cells of patients with malignant juvenile osteopetrosis
The genetic defects that cause human infantile malignant osteopetrosis, a disease with recessive inheritance characterized by… 
1995
1995
Reciprocal Alteration in Circulating TJ6+ CD19+ and TJ6+ CD56+ Leukocytes in Early Pregnancy Predicts Success or Miscarriage
PROBLEM: TJ6 is a cytokine whose membrane form is regularly expressed on the B lymphocytes of women during pregnancy. In a… 
1994
1994
Expression of a membrane form of the pregnancy-associated protein TJ6 on lymphocytes.
TJ6 is a novel protein which has immunosuppressive activity and may have a functional role in fetal allograft survival during… 
Review
1992
Review
1992
Evidence for a conserved 95-120 kDa subunit associated with and essential for activity of V-ATPases.
Vacuoles purified from Saccharomyces cerevisiae bearing the vph1-1 mutation had no detectable bafilomycin-sensitive ATPase… 
1981
1981
The pathogenesis of infantile malignant osteopetrosis: bone mineral metabolism and complications in five infants.
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