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- Publisher Website: 10.1038/ng577
- Scopus: eid_2-s2.0-0034935075
- PMID: 11455389
- WOS: WOS:000170174800022
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Article: Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1
Title | Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1 |
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Authors | |
Keywords | Amino Acid Substitution/genetics Base Sequence China/epidemiology Conserved Sequence DNA Mutational Analysis Genes, Dominant Hand Deformities, Congenital/*classification/epidemiology/*genetics Hedgehog Proteins Heterozygote Detection Humans Models, Molecular Molecular Sequence Data Mutation/*genetics Pedigree Phenotype Polymerase Chain Reaction Protein Structure, Tertiary/genetics Proteins/*genetics Signal Transduction/genetics Terminology as Topic *Trans-Activators |
Issue Date | 2001 |
Citation | Nature Genetics, 2001, v. 28 n. 4, p. 386-388 How to Cite? |
Abstract | Brachydactyly type A-1 (BDA-1; MIM 112500) is characterized by shortening or missing of the middle phalanges (Fig. 1a). It was first identified by Farabee in 1903 (ref. 2), is the first recorded example of a human anomaly with Mendelian autosomal-dominant inheritance and, as such, is cited in most genetic and biological textbooks. Here we show that mutations in IHH, which encodes Indian hedgehog, cause BDA-1. We have identified three heterozygous missense mutations in the region encoding the amino-terminal signaling domain in all affected members of three large, unrelated families. The three mutant amino acids, which are conserved across all vertebrates and invertebrates studied so far, are predicted to be adjacent on the surface of IHH. |
Persistent Identifier | http://hdl.handle.net/10722/208441 |
ISSN | 2023 Impact Factor: 31.7 2023 SCImago Journal Rankings: 17.300 |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Gao, B | en_US |
dc.contributor.author | Guo, J | en_US |
dc.contributor.author | She, C | en_US |
dc.contributor.author | Shu, A | en_US |
dc.contributor.author | Yang, M | en_US |
dc.contributor.author | Tan, Z | en_US |
dc.contributor.author | Yang, X | en_US |
dc.contributor.author | Guo, S | en_US |
dc.contributor.author | Feng, G | en_US |
dc.contributor.author | He, L | en_US |
dc.date.accessioned | 2015-03-11T03:01:01Z | - |
dc.date.available | 2015-03-11T03:01:01Z | - |
dc.date.issued | 2001 | en_US |
dc.identifier.citation | Nature Genetics, 2001, v. 28 n. 4, p. 386-388 | en_US |
dc.identifier.issn | 1061-4036 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/208441 | - |
dc.description.abstract | Brachydactyly type A-1 (BDA-1; MIM 112500) is characterized by shortening or missing of the middle phalanges (Fig. 1a). It was first identified by Farabee in 1903 (ref. 2), is the first recorded example of a human anomaly with Mendelian autosomal-dominant inheritance and, as such, is cited in most genetic and biological textbooks. Here we show that mutations in IHH, which encodes Indian hedgehog, cause BDA-1. We have identified three heterozygous missense mutations in the region encoding the amino-terminal signaling domain in all affected members of three large, unrelated families. The three mutant amino acids, which are conserved across all vertebrates and invertebrates studied so far, are predicted to be adjacent on the surface of IHH. | en_US |
dc.language | eng | en_US |
dc.relation.ispartof | Nature Genetics | en_US |
dc.subject | Amino Acid Substitution/genetics | en_US |
dc.subject | Base Sequence | en_US |
dc.subject | China/epidemiology | en_US |
dc.subject | Conserved Sequence | en_US |
dc.subject | DNA Mutational Analysis | en_US |
dc.subject | Genes, Dominant | en_US |
dc.subject | Hand Deformities, Congenital/*classification/epidemiology/*genetics | en_US |
dc.subject | Hedgehog Proteins | en_US |
dc.subject | Heterozygote Detection | en_US |
dc.subject | Humans | en_US |
dc.subject | Models, Molecular | en_US |
dc.subject | Molecular Sequence Data | en_US |
dc.subject | Mutation/*genetics | en_US |
dc.subject | Pedigree | en_US |
dc.subject | Phenotype | en_US |
dc.subject | Polymerase Chain Reaction | en_US |
dc.subject | Protein Structure, Tertiary/genetics | en_US |
dc.subject | Proteins/*genetics | en_US |
dc.subject | Signal Transduction/genetics | en_US |
dc.subject | Terminology as Topic | en_US |
dc.subject | *Trans-Activators | en_US |
dc.title | Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1 | en_US |
dc.type | Article | en_US |
dc.identifier.email | Gao, B: gaobo@hku.hk | en_US |
dc.identifier.authority | Gao, B=rp02012 | en_US |
dc.identifier.doi | 10.1038/ng577 | en_US |
dc.identifier.pmid | 11455389 | - |
dc.identifier.scopus | eid_2-s2.0-0034935075 | - |
dc.identifier.volume | 28 | en_US |
dc.identifier.issue | 4 | en_US |
dc.identifier.spage | 386 | en_US |
dc.identifier.epage | 388 | en_US |
dc.identifier.isi | WOS:000170174800022 | - |
dc.identifier.issnl | 1061-4036 | - |