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PMID: 9229111 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Review

DNA helicases in inherited human disorders.

Current opinion in genetics & development ·Vol. 7 ·No. 3 ·1997-06-00 ·Pages 354-63

Ellis NA

Abstract

Six known or predicted helicases that are mutated in human syndromes are now recognized. These syndromes include xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Bloom's syndrome, Werner's syndrome, and alpha-thalassemia mental retardation on the X chromosome. The clinical abnormalities in these syndromes cover a broad spectrum, pointing to different cellular processes of DNA manipulation that are defective in these syndromes.

MeSH Terms

Amino Acid Sequence DNA Helicases/genetics DNA Repair Gene Expression Regulation Genetic Diseases, Inborn/genetics Humans Molecular Sequence Data Mutation Transcription Factors

Chemicals

Transcription Factors DNA Helicases

Authors & Affiliations

1 authors, click to expand affiliations / ORCID

Ellis N A

Laboratory of Human Genetics, New York Blood Center, New York 10021, USA.

Article Info

Journal

Current opinion in genetics & development

Abbr.

Curr Opin Genet Dev

ISSN

0959-437X

DOI

10.1016/s0959-437x(97)80149-9

Published

1997-06-00

Pages

354-63

Language

English

Region

England

NLM ID

9111375

Subset

Grants

NCI NIH HHS · CA-50897 · United States

NIGMS NIH HHS · GM-47890 · United States

Databases

GENBANK

D17532, D26528, D30655, D37984, L04791, L24544, L36140, L47234, L76937, M31899, U09820, U28042, U29175, U33833, U33834, U41387, U59321, U72936, U72937, U72938, X15729, X52104, X52221, X70649, X72889, X97795, X98743, Z11685, Z37166, Z46606

External Links

PubMed source DOI: 10.1016/s0959-437x(97)80149-9 View journal details

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DNA helicases in inherited human disorders.

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