CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.
about
Osteopetrosis and its relevance for the discovery of new functions associated with the skeletonIdentification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis.Null mutation of chloride channel 7 (Clcn7) impairs dental root formation but does not affect enamel mineralizationA missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle.Estradiol activates chloride channels via estrogen receptor-α in the cell membranes of osteoblasts.Helix O modulates voltage dependency of CLC-1.Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions.[Morphological characteristics of osteopetrosis].Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II).Vacuolar H+-ATPase: An Essential Multitasking Enzyme in Physiology and Pathophysiology
P2860
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P2860
CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.
description
2014 nî lūn-bûn
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2014 թվականի ապրիլին հրատարակված գիտական հոդված
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2014年の論文
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2014年学术文章
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2014年学术文章
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CLCN7 and TCIRG1 mutations dif ...... in osteopetrotic individuals.
@en
CLCN7 and TCIRG1 mutations dif ...... in osteopetrotic individuals.
@nl
type
label
CLCN7 and TCIRG1 mutations dif ...... in osteopetrotic individuals.
@en
CLCN7 and TCIRG1 mutations dif ...... in osteopetrotic individuals.
@nl
prefLabel
CLCN7 and TCIRG1 mutations dif ...... in osteopetrotic individuals.
@en
CLCN7 and TCIRG1 mutations dif ...... in osteopetrotic individuals.
@nl
P2093
P2860
P50
P356
P1476
CLCN7 and TCIRG1 mutations dif ...... in osteopetrotic individuals.
@en
P2093
Ansgar Schulz
Carmen F Ludwig
Chayarop Supanchart
F Timo Beil
Florian Barvencik
Jan M Pestka
Jozef Zustin
Konstantinos Tsiakas
Michael Amling
Michael Hahn
P2860
P304
P356
10.1002/JBMR.2100
P577
2014-04-01T00:00:00Z