Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis
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The a-subunit of the V-type H+-ATPase interacts with phosphofructokinase-1 in humansHuman H+ATPase a4 subunit mutations causing renal tubular acidosis reveal a role for interaction with phosphofructokinase-1Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone densityAutosomal recessive cutis laxa syndrome revisitedStructure of the yeast vacuolar ATPaseInvolvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humansLinkage of osteoporosis to chromosome 20p12 and association to BMP2Archazolid and apicularen: novel specific V-ATPase inhibitorsRegulation of osteoclasts by membrane-derived lipid mediatorsOptic nerve compression and retinal degeneration in Tcirg1 mutant mice lacking the vacuolar-type H-ATPase a3 subunitDiscovery of CLC transport proteins: cloning, structure, function and pathophysiologyBiochemical and biophysical properties of interactions between subunits of the peripheral stalk region of human V-ATPaseDissociation of bone resorption and bone formation in adult mice with a non-functional V-ATPase in osteoclasts leads to increased bone strengthAtp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotypeThe vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels.Osteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern.A deletion mutation in bovine SLC4A2 is associated with osteopetrosis in Red Angus cattle.Alterations in osteoclast function and phenotype induced by different inhibitors of bone resorption--implications for osteoclast qualityThe C-H peripheral stalk base: a novel component in V1-ATPase assembly.Screening of protein kinase inhibitors identifies PKC inhibitors as inhibitors of osteoclastic acid secretion and bone resorption.A new osteopetrosis mutant mouse strain (ntl) with odontoma-like proliferations and lack of tooth rootsA dual function of V0-ATPase a1 provides an endolysosomal degradation mechanism in Drosophila melanogaster photoreceptors.Genetic disorders of the skeleton: a developmental approachMapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3.Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero.HuR stabilizes vacuolar H+-translocating ATPase mRNA during cellular energy depletionIdentification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis.ATP6v0d2 deficiency increases bone mass, but does not influence ovariectomy-induced bone loss.Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis.As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.The vacuolar-ATPase modulates matrix metalloproteinase isoforms in human pancreatic cancerHematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines.A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases.Metabolic activation stimulates acid secretion and expression of matrix degrading proteases in human osteoblasts.A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report.Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosisExtra-renal locations of the a4 subunit of H(+)ATPase.Rational identification of enoxacin as a novel V-ATPase-directed osteoclast inhibitor.Overexpression of a novel osteopetrosis-related gene CCDC154 suppresses cell proliferation by inducing G2/M arrest.alphavbeta3 and macrophage colony-stimulating factor: partners in osteoclast biology.
P2860
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P2860
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis
description
2000 nî lūn-bûn
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2000 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Mutations in the a3 subunit of ...... antile malignant osteopetrosis
@ast
Mutations in the a3 subunit of ...... antile malignant osteopetrosis
@en
Mutations in the a3 subunit of ...... antile malignant osteopetrosis
@nl
type
label
Mutations in the a3 subunit of ...... antile malignant osteopetrosis
@ast
Mutations in the a3 subunit of ...... antile malignant osteopetrosis
@en
Mutations in the a3 subunit of ...... antile malignant osteopetrosis
@nl
prefLabel
Mutations in the a3 subunit of ...... antile malignant osteopetrosis
@ast
Mutations in the a3 subunit of ...... antile malignant osteopetrosis
@en
Mutations in the a3 subunit of ...... antile malignant osteopetrosis
@nl
P2093
P3181
P356
P1476
Mutations in the a3 subunit of ...... antile malignant osteopetrosis
@en
P2093
T J Jentsch
W Friedrich
P304
P3181
P356
10.1093/HMG/9.13.2059
P407
P577
2000-08-12T00:00:00Z