Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP

Nature Genetics

Volumn 27, Issue 2, 2001, Pages 201-204

  Xiao, Shangxi ^a,b   Yu, Chuan ^a   Chou, Xueming ^c   Yuan, Wenjuan ^d   Wang, Ying ^e   Bu, Lei ^a,b   Fu, Gang ^f   Qian, Meiqian ^a   Yang, Jun ^a   Shi, Yaozhou ^a,b   Hu, Landian ^a   Han, Bin ^g   Wang, Zhengmin ^h   Huang, Wei ^f   Liu, Jing ^b   Chen, Zhu ^f   Zhao, Guoping ^a   Kong, Xiangyin ^a  

^a Shanghai Jiao Tong University Affiliated Sixth People s Hospital   (China)

^b UNIVERSITY OF SCIENCE AND TECHNOLOGY OF CHINA   (China)

^c No 82 Hospital of People's Liberation Army of China   (China)

^d Stomatological Hospital of Yang Pu Community of Shanghai   (China)

^e FOURTH MILITARY MEDICAL UNIVERSITY   (China)

^f CHINESE NATIONAL HUMAN GENOME CENTER AT SHANGHAI   (China)

^g INSTITUTE OF GEOLOGY AND GEOPHYSICS   (China)

^h FUDAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

DENTIN SIALOPHOSPHOPROTEIN; PHOSPHOPROTEIN; SIALOPROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHINESE; CLINICAL ARTICLE; DENTIN; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HEARING LOSS; HUMAN; MALE; MISSENSE MUTATION; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; TOOTH MALFORMATION;

ASIAN CONTINENTAL ANCESTRY GROUP; AUDIOMETRY, PURE-TONE; CHINA; DEAFNESS; DENTINOGENESIS IMPERFECTA; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; PHOSPHOPROTEINS; PROTEIN PRECURSORS; SIALOGLYCOPROTEINS;

EID: 0035136682     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/84848     Document Type: Article

References (21)

1. Refinement of the dentinogenesis imperfecta type II locus to an interval of less than 2 centiMorgans at chromosome 4q21 and the creation of a yeast artificial chromosome contig of the critical region
2. Cloning and sequence determination of rat dentin sialoprotein, a novel dentin protein
3. Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci
4. MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia
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7. Mapping of the human and mouse bone sialoprotein and osteopontin loci
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9. Dentin phosphoprotein and dentin sialoprotein are cleavage products expressed from a single transcript coded by a gene on human chromosome 4. Dentin phosphoprotein DNA sequence determination
10. Dentin matrix proteins
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18. Affinity of bone sialoprotein and several other bone and dentin acidic proteins to collagen fibrils
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