scholarly journals Nucleotide excision repair syndromes: molecular basis and clinical symptoms

1995 ◽  
Vol 347 (1319) ◽  
pp. 75-81 ◽  
Keyword(s):  
Nucleotide Excision Repair ◽  
Transcription Initiation ◽  
Clinical Symptoms ◽  
Excision Repair ◽  
Complementation Group ◽  
Molecular Defect ◽  
Cockayne's Syndrome ◽  
Nucleotide Excision ◽  
Group B ◽  
Deficiency Diseases

The phenotypic consequences of a nucleotide excision repair (NER) defect in man are apparent from three distinct inborn diseases characterized by hypersensitivity of the skin to ultraviolet light and a remarkable clinical and genetic heterogeneity. These are the prototype repair syndrome, xeroderma pigmentosum (XP) (seven genetic complementation groups, designated XP-A to XP-G), Cockayne’s syndrome (two groups: CS-A and CS-B) and PIBIDS, a peculiar photosensitive form of the brittle hair disease trichothiodystrophy (TTD, at least two groups of which one equivalent to XP-D). To investigate the mechanism of NER and to resolve the molecular defect in these NER deficiency diseases we have focused on the cloning and characterization of human DNA repair genes. One of the genes that we cloned is ERCC3 . It specifies a chromatin binding helicase. Transfection and microinjection experiments demonstrated that mutations in ERCC3 are responsible for XP complementation group B, a very rare form of XP that is simultaneously associated with Cockayne’s syndrome (CS). The ERCC3 protein was found to be part of a multiprotein complex (TFIIH) required for transcription initiation of most structural genes and for NER . This defines the additional, hitherto unknown vital function of the gene. This ERCC3 gene and several other ner genes involved in transcription initiation will be discussed.

Very early prenatal diagnosis of Cockayne’s syndrome by coelocentesis

2022 ◽  
pp. 1-8
Author(s):  
Antonino Giambona ◽  
Margherita Vinciguerra ◽  
Filippo Leto ◽  
Filippo Cassarà ◽  
Gaspare Cucinella ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cockayne's Syndrome

scholarly journals Renal Lesions in Cockayne's Syndrome

1966 ◽  
Vol 89 (2) ◽  
pp. 151-166 ◽  
Author(s):  
Tadasi Ohno ◽  
Minoru Hirooka
Keyword(s):  
Renal Lesions ◽  
Cockayne's Syndrome

An atypical case of Cockayne's syndrome

2008 ◽  
Vol 4 (1) ◽  
pp. 28-32 ◽  
Author(s):  
R. A. Pfeiffer ◽  
K. D. Bachmann
Keyword(s):  
Atypical Case ◽  
Cockayne's Syndrome

Cockayne's Syndrome.

1959 ◽  
Vol 3 (1) ◽  
pp. 52-54
Author(s):  
D. E. COPPING
Keyword(s):  
Cockayne's Syndrome

Cockayne's Syndrome

Radiology ◽  
1972 ◽  
Vol 102 (2) ◽  
pp. 403-406 ◽  
Author(s):  
D. J. Alton ◽  
P. McDonald ◽  
B. J. Reilly
Keyword(s):  
Cockayne's Syndrome

Cockayne's syndrome

1969 ◽  
Vol 14 (1) ◽  
pp. 52-61 ◽  
Author(s):  
Ursula Rowlatt
Keyword(s):  
Cockayne's Syndrome

scholarly journals A clinical study of a family with Cockayne's syndrome

1981 ◽  
Vol 18 (4) ◽  
pp. 288-293 ◽  
Author(s):  
R. Proops ◽  
A M R Taylor ◽  
J Insley
Keyword(s):  
Clinical Study ◽  
Cockayne's Syndrome
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