COCKAYNE

Traducere în limba română

Cockayne substantiv, vezi Cockaigne.

Exemple de propoziții și/sau fraze:

Defects in ERCC6 are the cause of Cockayne's syndrome type B.

(ERCC6 wt Allele, NCI Thesaurus)

In humans hereditary defects in the NER pathway are linked to at least three diseases: xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD).

(Nucleotide Excision Repair Pathway, NCI Thesaurus/KEGG)

This gene plays a role in the nucleotide base excision repair of UV-induced DNA damage and mutations of the gene cause Cockayne syndrome.

(ERCC5 Gene, NCI Thesaurus)

Defects in this allele can result in three different disorders, xeroderma pigmentosum complementation group D, trichothiodystrophy and Cockayne syndrome.

(ERCC2 wt Allele, NCI Thesaurus)

It is currently thought to be part of the spectrum of disorders within Cockayne syndrome.

(Cerebrooculofacioskeletal Syndrome, NCI Thesaurus)

Mutational inactivation of XPG causes Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia.

(DNA Excision Repair Protein ERCC-5, NCI Thesaurus)

It is caused in some cases by mutations in the Cockayne syndrome group B gene, CSB/ERCC6, or the xeroderma pigmentosum genes: XPD/ERCC2, XPG/ERCC5, XPF/ERCC1, which are all involved in the transcription-coupled nucleotide excision repair pathway of DNA repair.

(Cerebrooculofacioskeletal Syndrome, NCI Thesaurus)

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