A missense mutation accelerating the gating of the lysosomal Cl -/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle

DMM Disease Models and Mechanisms

Volumn 7, Issue 1, 2014, Pages 119-128

  Sartelet, Arnaud ^a   Stauber, Tobias ^b   Coppieters, Wouter ^a   Ludwig, Carmen F ^b   Fasquelle, Corinne ^a   Druet, Tom ^a   Zhang, Zhiyan ^a   Ahariz, Naima ^a   Cambisano, Nadine ^a   Jentsch, Thomas J ^b   Charlier, Carole ^a  

^a UNIVERSITY OF LIÈGE   (Belgium)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

Author keywords

Belgian Blue cattle; CLCN7; Hamartomas; Ion homeostasis; Lysosomal storage; Osteopetrosis

Indexed keywords

ANTIPORTER; CHLORIDE; CHLORIDE PROTON EXCHANGE PROTEIN; DNA; GLUTAMINE; MESSENGER RNA; OSTM1 PROTEIN; PROTEIN; TYROSINE; UNCLASSIFIED DRUG;

ALBERS SCHOENBERG DISEASE; ANIMAL TISSUE; ARTICLE; CATTLE; CELL MEMBRANE DEPOLARIZATION; CELLULAR DISTRIBUTION; CHANNEL GATING; CONTROLLED STUDY; ELECTRIC POTENTIAL; GENE CLUSTER; GENE MAPPING; GENETIC ASSOCIATION; GENETIC VARIABILITY; GINGIVAL HAMARTOMA; HAMARTOMA; LYSOSOME MEMBRANE; MISSENSE MUTATION; MOUSE; NEWBORN; NONHUMAN; OSTEOLYSIS; PERINATAL DEATH; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

BELGIAN BLUE CATTLE; CLCN7; HAMARTOMAS; ION HOMEOSTASIS; LYSOSOMAL STORAGE; OSTEOPETROSIS;

AMINO ACID SEQUENCE; ANIMALS; CATTLE; CHLORIDE CHANNELS; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; GINGIVAL DISEASES; HAMARTOMA; HAPLOTYPES; HELA CELLS; HOMEOSTASIS; HOMOZYGOTE; HUMANS; LYSOSOMES; MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OSTEOPETROSIS; SEQUENCE HOMOLOGY, AMINO ACID; TYROSINE; UBIQUITIN-PROTEIN LIGASES; XENOPUS LAEVIS;

EID: 84892402801     PISSN: 17548403     EISSN: 17548411     Source Type: Journal    
DOI: 10.1242/dmm.012500     Document Type: Article

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