The mutational spectrum of human malignant autosomal recessive osteopetrosis
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c-Src control of chloride channel support for osteoclast HCl transport and bone resorptionNuclear receptors in bone physiology and diseasesYeast phosphofructokinase-1 subunit Pfk2p is necessary for pH homeostasis and glucose-dependent vacuolar ATPase reassemblyOsteopetrosis and its relevance for the discovery of new functions associated with the skeletonPrevention of wear particle-induced osteolysis by a novel V-ATPase inhibitor saliphenylhalamide through inhibition of osteoclast bone resorptionChloride channel CICN7 mutations in a Korean patient with infantile malignant osteopetrosis initially presenting with neonatal thrombocytopenia.Osteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern.SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.A new osteopetrosis mutant mouse strain (ntl) with odontoma-like proliferations and lack of tooth rootsVersatile roles of V-ATPases accessory subunit Ac45 in osteoclast formation and functionRescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero.SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.TCIRG1-associated congenital neutropenia.Luteolin inhibition of V-ATPase a3-d2 interaction decreases osteoclast resorptive activity.As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.Systematic screening of polyphosphate (poly P) levels in yeast mutant cells reveals strong interdependence with primary metabolism.Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosisGeneralized osteosclerosis in a cat.Overexpression of a novel osteopetrosis-related gene CCDC154 suppresses cell proliferation by inducing G2/M arrest.Genetic determinants of fibro-osseous lesions in aged inbred mice.V-type ATPase proton pump expression during enamel formation.Case reports: treatment of subtrochanteric and ipsilateral femoral neck fractures in an adult with osteopetrosisTowards a better understanding and new therapeutics of osteopetrosis.Deficiency of ATP6V1H Causes Bone Loss by Inhibiting Bone Resorption and Bone Formation through the TGF-β1 Pathway.Osteopetrosis: genetics, treatment and new insights into osteoclast function.Saccharomyces cerevisiae vacuolar H+-ATPase regulation by disassembly and reassembly: one structure and multiple signals.Transcriptional program of mouse osteoclast differentiation governed by the macrophage colony-stimulating factor and the ligand for the receptor activator of NFkappa B.Our research on proton pumping ATPases over three decades: their biochemistry, molecular biology and cell biology.Disorders of lysosomal acidification-The emerging role of v-ATPase in aging and neurodegenerative disease.How rare bone diseases have informed our knowledge of complex diseases.Osteopetrosis mutation R444L causes endoplasmic reticulum retention and misprocessing of vacuolar H+-ATPase a3 subunit.Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.Bafilomycin A1 Attenuates Osteoclast Acidification and Formation, Accompanied by Increased Levels of SQSTM1/p62 Protein.Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients.Severe pulmonary hypertension: a frequent complication of stem cell transplantation for malignant infantile osteopetrosis.Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation.OSTM1 bone defect reveals an intercellular hematopoietic crosstalk.Engraftment and survival following hematopoietic stem cell transplantation for osteopetrosis using a reduced intensity conditioning regimen.In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects.
P2860
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P2860
The mutational spectrum of human malignant autosomal recessive osteopetrosis
description
2001 nî lūn-bûn
@nan
2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
The mutational spectrum of human malignant autosomal recessive osteopetrosis
@ast
The mutational spectrum of human malignant autosomal recessive osteopetrosis
@en
The mutational spectrum of human malignant autosomal recessive osteopetrosis
@nl
type
label
The mutational spectrum of human malignant autosomal recessive osteopetrosis
@ast
The mutational spectrum of human malignant autosomal recessive osteopetrosis
@en
The mutational spectrum of human malignant autosomal recessive osteopetrosis
@nl
prefLabel
The mutational spectrum of human malignant autosomal recessive osteopetrosis
@ast
The mutational spectrum of human malignant autosomal recessive osteopetrosis
@en
The mutational spectrum of human malignant autosomal recessive osteopetrosis
@nl
P2093
P3181
P356
P1476
The mutational spectrum of human malignant autosomal recessive osteopetrosis
@en
P2093
A Frattini
A Superti Furga
B Gerritsen
C Sobacchi
D Chitayat
P304
P3181
P356
10.1093/HMG/10.17.1767
P407
P577
2001-08-15T00:00:00Z