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.
Publication types
-
Research Support, Non-U.S. Gov't
-
Research Support, U.S. Gov't, P.H.S.
-
Review
MeSH terms
-
Amino Acid Sequence
-
DNA Helicases / genetics*
-
DNA Repair
-
Gene Expression Regulation
-
Genetic Diseases, Inborn / genetics*
-
Humans
-
Molecular Sequence Data
-
Mutation*
-
Transcription Factors
Substances
-
Transcription Factors
-
DNA Helicases
Associated data
-
GENBANK/D17532
-
GENBANK/D26528
-
GENBANK/D30655
-
GENBANK/D37984
-
GENBANK/L04791
-
GENBANK/L24544
-
GENBANK/L36140
-
GENBANK/L47234
-
GENBANK/L76937
-
GENBANK/M31899
-
GENBANK/U09820
-
GENBANK/U28042
-
GENBANK/U29175
-
GENBANK/U33833
-
GENBANK/U33834
-
GENBANK/U41387
-
GENBANK/U59321
-
GENBANK/U72936
-
GENBANK/U72937
-
GENBANK/U72938
-
GENBANK/X15729
-
GENBANK/X52104
-
GENBANK/X52221
-
GENBANK/X70649
-
GENBANK/X72889
-
GENBANK/X97795
-
GENBANK/X98743
-
GENBANK/Z11685
-
GENBANK/Z37166
-
GENBANK/Z46606