Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II)
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DOI: 10.1007/s00223-017-0332-x
Abstract: The main hallmark of high bone mass (HBM) disorders is increased bone mineral density, potentially visible in conventional radiographs and quantifiable by other radiographic methods. While one of the most common forms of HBM is… read more here.
Keywords: hbm; dominant osteopetrosis; ado; autosomal dominant ... See more keywords
RNA interference therapy for autosomal dominant osteopetrosis type 2. Towards the preclinical development.
Sign Up to like & getrecommendations! Published in 2018 at "Bone"
DOI: 10.1016/j.bone.2018.02.031
Abstract: Autosomal Dominant Osteopetrosis type 2 (ADO2) is a rare bone disease characterized by dense and brittle bones due to impairment of osteoclast bone resorption. Dominant negative mutations of the CLCN7 gene affect about 70% of… read more here.
Keywords: osteopetrosis type; dominant osteopetrosis; rna interference; bone ... See more keywords
CLCN7, a gene shared by autosomal recessive and autosomal dominant osteopetrosis.
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DOI: 10.2139/ssrn.4207532
Abstract: After the discovery of abundant v-ATPase complexes in the osteoclast ruffled membrane it was obvious that in parallel a negative counter-ion needs to be transported across this membrane to allow for efficient transport of protons… read more here.
Keywords: clcn7; osteopetrosis; clc; autosomal dominant ... See more keywords
Autosomal dominant osteopetrosis.
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DOI: 10.2139/ssrn.4290887
Abstract: Autosomal dominant osteopetrosis (ADO) is the most common form of osteopetrosis. ADO is characterized by generalized osteosclerosis along with characteristic radiographic features such as a "bone-in-bone" appearance of long bones and sclerosis of the superior… read more here.
Keywords: osteopetrosis; disease; autosomal dominant; ado ... See more keywords
Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis
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DOI: 10.3803/enm.2018.33.3.380
Abstract: Background Type II autosomal dominant osteopetrosis (ADO II) is a rare genetically heterogeneous disorder characterized by osteosclerosis and increased bone mass, predominantly involving spine, pelvis, and skull. It is closely related to functional defect of… read more here.
Keywords: dominant osteopetrosis; autosomal dominant; clcn7; type autosomal ... See more keywords