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Cockayne Syndrome, Type II

Known as: Cockayne Syndrome, Type B, Cockayne Syndrome, Group B, Group B Cockayne Syndrome 
Caused by mutations of gene ERCC6.
National Institutes of Health

Related topics

Related topics

40 relations
AnhidrosisAtaxiaAtrophicAutosomal recessive inheritance

Broader (1)

Cockayne Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Surface functionalization of chitosan with 5-nitroisatin.
Review
2018
Review
2018
Compulsive Sexual Behavior in Humans and Preclinical Models
Purpose of ReviewCompulsive sexual behavior (CSB) is widely regarded as a “behavioral addiction,” and is a major threat to… 
2011
2011
Cockayne syndrome B protects against methamphetamine-enhanced oxidative DNA damage in murine fetal brain and postnatal neurodevelopmental deficits.
Methamphetamine (METH) increases the oxidative DNA lesion 8-oxoguanine (8-oxoG) in fetal mouse brain, and causes postnatal motor… 
2010
2010
The XPD subunit of TFIIH is required for transcription-associated but not DNA double-strand break-induced recombination in mammalian cells.
Mutations in the XPD gene can give rise to three phenotypically distinct disorders: xeroderma pigmentosum (XP… 
2009
2009
Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene.
Back Cockayne syndrome (CS; MIM 133540-216400) is a rare autosomal recessive neurodegenerative disorder characterized by… 
2009
2009
Efecto de la preparación de una premezcla de harina de soya y maíz (CSB) en la disponibilidad de hierro y vitamina A en la Escuela Francisco Morazán, El Jicarito, Honduras
Highly Cited
2005
Highly Cited
2005
Relationship between UV-induced mutant p53 patches and skin tumours, analysed by mutation spectra and by induction kinetics in various DNA-repair-deficient mice.
Clusters of p53 immunopositive epidermal keratinocytes (so-called p53 patches, clones or foci) are found in sun or ultraviolet… 
2004
2004
In UV‐irradiated Saccharomyces cerevisiae, overexpression of Swi2/Snf2 family member Rad26 increases transcription‐coupled repair and repair of the non‐transcribed strand
Summary Nucleotide excision repair (NER) in eukaryotes is a pathway conserved from yeast to humans that removes many bulky… 
2001
2001
Loss of heterozygosity of nucleotide excision repair factors in sporadic oral squamous cell carcinoma using microdissected tissue.
The deficiencies of nucleotide excision repair (NER) factors are involved in rare genetic diseases such as xeroderma pigmentosum… 
2000
2000
Original COFS syndrome kindred from Manitoba has a mutation in the cockayne syndrome group B (CSB) gene.
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