Results 211 to 220 of about 2,256,617 (260)
Journal of the American Chemical Society, 2021 Guanine-rich DNA can fold into secondary structures known as G-quadruplexes (G4s). G4s can form from a single DNA strand (intramolecular) or from multiple DNA strands (intermolecular), but studies on their biological functions have been often limited to ...
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Journal of Computer Assisted Tomography, 1982
The diagnosis of Cockayne syndrome was established with the aid of cranial computed tomography (CT) in a child with growth deficiency, mental retardation, and neurologic findings which are typical for this rare childhood disorder. Calcification of basal ganglia and hydrocephalus ex vacuo are neuropathologic characteristics of Cockayne syndrome which ...
E D, Levinson +4 more
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The diagnosis of Cockayne syndrome was established with the aid of cranial computed tomography (CT) in a child with growth deficiency, mental retardation, and neurologic findings which are typical for this rare childhood disorder. Calcification of basal ganglia and hydrocephalus ex vacuo are neuropathologic characteristics of Cockayne syndrome which ...
E D, Levinson +4 more
openaire +3 more sources
A C. elegans model for neurodegeneration in Cockayne syndrome
Nucleic Acids Research, 2020 Cockayne syndrome (CS) is a congenital syndrome characterized by growth and mental retardation, and premature ageing. The complexity of CS and mammalian models warrants simpler metazoan models that display CS-like phenotypes that could be studied in the ...
Amanda F C Lopes +2 more
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Cockayne syndrome group A and B proteins function in rRNA transcription through nucleolin regulation
Nucleic Acids Research, 2020 Cockayne Syndrome (CS) is a rare neurodegenerative disease characterized by short stature, accelerated aging and short lifespan. Mutations in two human genes, ERCC8/CSA and ERCC6/CSB, are causative for CS and their protein products, CSA and CSB, while ...
Mustafa N Okur +2 more
exaly +2 more sources
Neurology, 1980
We report a case of Cockayne syndrome with several atypical features. The patient displayed many of the typical features, including cachectic bird-headed dwarfism, photodermatitis, normal pressure hydrocephalus, and extraphyramidal and pyramidal tract signs. However, she also displayed the unusual and previously unreported features of late age at onset,
R M, Kennedy, V D, Rowe, J J, Kepes
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We report a case of Cockayne syndrome with several atypical features. The patient displayed many of the typical features, including cachectic bird-headed dwarfism, photodermatitis, normal pressure hydrocephalus, and extraphyramidal and pyramidal tract signs. However, she also displayed the unusual and previously unreported features of late age at onset,
R M, Kennedy, V D, Rowe, J J, Kepes
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Medizinische Genetik, 2012
Zusammenfassung Das Cockayne-Syndrom (CS) ist eine seltene, autosomal-rezessive Erkrankung, charakterisiert durch vorzeitige Alterungssymptomatik mit Degeneration des zentralen Nervensystems, Verlust des subkutanen Fettgewebes und Kachexie. Auslöser dieser Erkrankung sind autosomal-rezessiv vererbte Mutationen im CSA- und CSB-Gen.
Y. Kamenisch, M. Berneburg
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Zusammenfassung Das Cockayne-Syndrom (CS) ist eine seltene, autosomal-rezessive Erkrankung, charakterisiert durch vorzeitige Alterungssymptomatik mit Degeneration des zentralen Nervensystems, Verlust des subkutanen Fettgewebes und Kachexie. Auslöser dieser Erkrankung sind autosomal-rezessiv vererbte Mutationen im CSA- und CSB-Gen.
Y. Kamenisch, M. Berneburg
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Clinical and Mutation Spectra of Cockayne Syndrome in India
Neurology India, 2021Background: Cockayne syndrome is an autosomal recessive disorder caused by biallelic mutations in ERCC6 or ERCC8 genes. Aims: To study the clinical and mutation spectrum of Cockayne syndrome.
D. Narayanan +8 more
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Nucleic Acids Research, 2019 Cockayne syndrome is an accelerated aging disorder, caused by mutations in the CSA or CSB genes. In CSB-deficient cells, poly (ADP ribose) polymerase (PARP) is persistently activated by unrepaired DNA damage and consumes and depletes cellular ...
Jong-Hyuk Lee +2 more
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