Results 141 to 150 of about 2,256,617 (260)

Chromatin Regulation of DNA Damage Repair and Genome Integrity in the Central Nervous System [PDF]

open access: yes, 2017
With the continued extension of lifespan, aging and age-related diseases have become a major medical challenge to our society. Aging is accompanied by changes in multiple systems. Among these, the aging process in the central nervous system is critically
Pan, Ling, Penney, Jay, Tsai, Li-Huei
core   +1 more source

A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

open access: yesFrontiers in Pediatrics, 2017
Cockayne syndrome (CS) is a rare autosomal recessive multisystem disorder characterized by impaired neurological and sensory functions, cachectic dwarfism, microcephaly, and photosensitivity.
Maryam Taghdiri   +8 more
doaj   +1 more source

Structural basis of ubiquitin recognition by the winged-helix domain of Cockayne syndrome group B protein

open access: yesNucleic Acids Research, 2019
Cockayne syndrome group B (CSB, also known as ERCC6) protein is involved in many DNA repair processes and essential for transcription-coupled repair (TCR). The central region of CSB has the helicase motif, whereas the C-terminal region contains important
Tomio S Takahashi   +5 more
semanticscholar   +1 more source

Mouse model for the DNA repair/basal transcription disorder Trichothiodystrophy reveals cancer predisposition. [PDF]

open access: yes, 1999
Patients with the nucleotide excision repair (NER) disorder xeroderma pigmentosum (XP) are highly predisposed to develop sunlight-induced skin cancer, in remarkable contrast to photosensitive NER-deficient trichothiodystrophy (TTD) patients carrying ...
Beems, R.B. (Rudolf)   +12 more
core   +1 more source

Occupational Therapy in Cockayne Syndrome: A Case Report

open access: yesJournal of Modern Rehabilitation, 2017
Introduction: Cockayne syndrome is a rare and autosomal recessive neurodevelopmental disorder characterized by symptoms such as progressive neurological disorder, photosensitivity, visual disturbances, microcephaly, premature aging, and birdlike nose ...
Marzieh Pashmdarfard
doaj  

COCKAYNE SYNDROME: REPORT OF TWO CASES WITHIN A FAMILY [PDF]

open access: yesActa Medica Iranica, 1999
The clinical and phenotypic features of two siblings (a 12 years old girl and her 7 year old brother) with Cockayne syndrome are described. The main problems were mild to moderate mental retardation, dwarfism, clumsy gait, photosensitive skin lesions and
M. Mohammadi
doaj   +1 more source

Peripheral Mediators of Colorectal Nociception and Sensitization [PDF]

open access: yes, 2012
Several ion channels are thought to facilitate colorectal afferent neuron sensitization, which contributes to abdominal pain in irritable bowel syndrome (IBS).
Kiyatkin, Michael E
core  

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