Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Xue, Yang ^a   Cai, Tao ^b   Shi, Songtao ^c   Wang, Weiguang ^d   Zhang, Yanli ^a   Mao, Tianqiu ^a   Duan, Xiaohong ^a  

^a FOURTH MILITARY MEDICAL UNIVERSITY   (China)

^b NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

^c UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^d FOURTH MILITARY MEDICAL UNIVERSITY   (China)

Author keywords

bone; cathepsin K; oral deformities; osteoclast; pycnodysostosis

Indexed keywords

CATHEPSIN K; COLLAGEN TYPE 1;

B LYMPHOCYTE; BONE DENSITY; CLINICAL RESEARCH; DIFFERENTIAL DIAGNOSIS; DNA SEQUENCE; EXON; EXTRACELLULAR MATRIX; FONTANEL; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HYPOPLASIA; INTRON; MISSENSE MUTATION; MONOCYTE; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OSTEOCLAST; OUTCOME ASSESSMENT; PARANASAL SINUS; PYCNODYSOSTOSIS; RETROSPECTIVE STUDY; REVIEW; SHORT STATURE; STOP CODON; T LYMPHOCYTE; TH17 CELL; TRANSLATION INITIATION; UNIPARENTAL DISOMY; WESTERN BLOTTING; ANIMAL; GENETICS; HUMAN; METABOLISM; MUTATION; PHENOTYPE;

ANIMALS; CATHEPSIN K; HUMANS; MUTATION; PHENOTYPE; PYCNODYSOSTOSIS;

EID: 79955715045     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-20     Document Type: Review

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