Mutations in ihh, encoding indian hedgehog, cause brachydactyly type a-1

Nature Genetics

Volumn 28, Issue 4, 2001, Pages 386-388

  Gao, Bo ^a,b   Guo, Jingzhi ^c   She, Chaowen ^d   Shu, Anli ^e   Yang, Maosheng ^a,b   Tan, Zheng ^a,b   Yang, Xinping ^a,b   Guo, Shengzhen ^a,b   Feng, Guoying ^a,b   He, Lin ^a,b,f  

^a SHANGHAI JIAO TONG UNIVERSITY   (China)

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

^c Dept of Pharmacy Guiyang Women and Children's Hospital Health Institute   (China)

^d HUAIHUA UNIVERSITY   (China)

^e HUAIHUA MEDICAL COLLEGE   (China)

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

Author keywords

[No Author keywords available]

Indexed keywords

SONIC HEDGEHOG PROTEIN;

AMINO ACID ANALYSIS; AMINO ACID SEQUENCE; AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRACHYDACTYLY; FAMILY STUDY; GENE MUTATION; HUMAN; MISSENSE MUTATION; PEDIGREE; PRIORITY JOURNAL;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHINA; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; GENES, DOMINANT; HAND DEFORMITIES, CONGENITAL; HEDGEHOG PROTEINS; HETEROZYGOTE DETECTION; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEIN STRUCTURE, TERTIARY; PROTEINS; SIGNAL TRANSDUCTION; TERMINOLOGY; TRANS-ACTIVATORS;

EID: 0034935075     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng577     Document Type: Letter

References (22)

1. Classification and identification of inherited brachydactylies
2. Mutation of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis
3. Mutations in CDMP1 cause autosomal dominant brachydactyly type C
4. Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B
5. A locus for brachydactyly type A-1 maps to chromosome 2q35-q36
6. Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein
7. Mutations in the human sonic hedgehog gene cause holoprosencephaly
8. The world according to hedgehog
9. The product of hedgehog autoproteolytic cleavage active in local and long-range signalling
10. Hedgehog signaling in vertebrate and invertebrate limb patterning
11. Localization of a gene for syndactyly type 1 to chromosome 2q34-q36
12. A potential catalytic site revealed by the 1.7-Å crystal structure of the amino-terminal signalling domain of Sonic hedgehog
13. Sonic hedgehog protein signals not as a hydrolytic enzyme but as an apparent ligand for Patched
14. Mapping Sonic Hedgehog-receptor interactions by steric interference
15. The tumor-suppressor gene patched encodes a candidate receptor for Sonic hedgehog
16. Biochemical evidence that Patched is the hedgehog receptor
17. Characterization of two patched receptors for the vertebrate hedgehog protein family
18. Vertebrate hedgehog signalling modulated by induction of a hedgehog-binding protein
19. Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation
20. The Sonic Hedgehog-Patched-Gli pathway in human development and disease