Skeletal dysplasias with increased bone density: Evolution of molecular pathogenesis in the last century

Gene

Volumn 528, Issue 1, 2013, Pages 41-45

  Aggarwal, Shagun ^a  

^a CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS   (India)

Author keywords

Genetics; History; Increased bone density; Osteopetrosis

Indexed keywords

CARBONATE DEHYDRATASE II; CHLORIDE CHANNEL; HYDROGEN POTASSIUM ADENOSINE TRIPHOSPHATASE; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5;

ALBERS SCHOENBERG DISEASE; ARTICLE; BONE DENSITY; BONE DYSPLASIA; DYSPLASIA; GENE MUTATION; HUMAN; MOLECULAR EVOLUTION; MOLECULAR PATHOLOGY; OSTEOCLASTOGENESIS; OSTEOSCLEROSIS; PRIORITY JOURNAL; PYCNODYSOSTOSIS;

AD; ANKH; ANKYLOSIS, PROGRESSIVE HOMOLOG (MOUSE) [HOMO SAPIENS]; AR; AUTOSOMAL DOMINANT; AUTOSOMAL RECESSIVE; CA2; CARBONIC ANHYDRASE II [HOMO SAPIENS]; CHLORIDE CHANNEL, VOLTAGE-SENSITIVE 7 [HOMO SAPIENS]; CLCN7; FERMITIN FAMILY MEMBER 3 [HOMO SAPIENS]; FERMT3; GENETICS; HISTORY; INCREASED BONE DENSITY; LEM DOMAIN CONTAINING 3 [HOMO SAPIENS]; LEMD3; LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5 [HOMO SAPIENS]; LRP5; NEMO; NF-KAPPA-B ESSENTIAL MODULATOR [HOMO SAPIENS]; OSTEOPETROSIS; OSTEOPETROSIS ASSOCIATED TRANSMEMBRANE PROTEIN 1 [HOMO SAPIENS]; OSTM1; PLECKSTRIN HOMOLOGY DOMAIN CONTAINING, FAMILY M (WITH RUN DOMAIN) MEMBER 1 [HOMO SAPIENS]; PLEKHM1; RANK; RANKL; RECEPTOR ACTIVATOR OF NF-KB [HOMO SAPIENS]; RECEPTOR ACTIVATOR OF NUCLEAR FACTOR KAPPA B LIGAND [HOMO SAPIENS]; SCLEROSTIN [HOMO SAPIENS]; SKD; SKELETAL DYSPLASIA; SLC29A3; SNX10; SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE TRANSPORTERS), MEMBER 3 [HOMO SAPIENS]; SORTING NEXIN 10 [HOMO SAPIENS]; SOST; T-CELL, IMMUNE REGULATOR 1, ATPASE, H(+) TRANSPORTING, LYSOSOMAL V0 SUBUNIT A3 [HOMO SAPIENS]; TCIRG1; TGFB1; TRANSFORMING GROWTH FACTOR, BETA 1 [HOMO SAPIENS]; WILMS TUMOR GENE ON THE X CHROMOSOME PROTEIN [HOMO SAPIENS]; WTX;

BONE DENSITY; EVOLUTION, MOLECULAR; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; OSTEOPETROSIS; PHENOTYPE; VACUOLAR PROTON-TRANSLOCATING ATPASES;

EID: 84882654395     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.04.069     Document Type: Article

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