Results 131 to 140 of about 2,256,617 (260)

Genomic stress in diseases stemming from defects in the second brain

open access: yesNeurogastroenterology &Motility, Volume 37, Issue 8, August 2025.
The enteric nervous system, a.k.a., second brain, is subject to a range of genotoxic exposures that include intrinsic oxidative stress and extrinsic agents associated with ingested foods, inflammation, and dysbiosis. Resulting DNA damage, if left unrepaired, can induce cell dysfunction or death, resulting in gut abnormalities and enteric neuropathy ...
Lobke Marie M. Mombeek   +2 more
wiley   +1 more source

The role of Cockayne Syndrome Protein B in transcription regulation

open access: yesGenomics Data, 2014
We investigated the question if CSB (Cockayne Syndrome complementation B) protein actively regulates gene transcription and how mutations in CSB gene affect that regulatory role.
Jieun Jeong
doaj   +1 more source

Photosensitivity Skin Disorders in Childhood [PDF]

open access: yes, 2010
Photosensitivity in childhood is caused by a diverse group of diseases. A specific sensitivity of a child’s skin to ultraviolet light is often the first manifestation or a clinical symptom of photodermatosis.
Ines Sjerobabski-Masnec   +4 more
core   +1 more source

War without weapons:constitution of healthy and pathological phenotypes associated with polymorphisms in genes involved in the maintenance of genome integrity [PDF]

open access: yes, 2012
Capacity to repair DNA damage may vary significantly between individuals coming out as healthy on routine physical and laboratory examinations. This variance does not generally cause distress or disease unless in case that specific triggers are present ...
Khalil, Hilal S.   +1 more
core   +3 more sources

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

open access: yes
JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

The effects of context processing on social cognition impairments in adults with Aspergers syndrome [PDF]

open access: yes, 2014
Social cognition—the basis of all communicative and otherwise interpersonal relationships—is embedded in specific contextual circumstances which shape intrinsic meanings.
Báez Buitrago, Sandra Jimena   +1 more
core   +1 more source

Cockayne syndrome: report of a Brazilian family with confirmation of impaired RNA synthesis after UV-irradiation

open access: yesGenetics and Molecular Biology, 2000
Cockayne syndrome (CS) is an autosomal recessive disorder characterized by dwarfism, growth deficiency, neurological deterioration, skin photosensitivity and a characteristic progressive facial appearance.
Simone M. Karam   +5 more
doaj   +1 more source

A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome [PDF]

open access: yes, 2015
Nucleotide Excision Repair (NER) is a pathway that removes lesions distorting the DNA helix. The molecular basis of the rare diseases Xeroderma pigmentosum (XP) and Cockayne Syndrome (CS) are explained based on the defects happening in 2 NER branches ...
Aguilera López, Andrés   +2 more
core   +1 more source

Heterogeneous clinical features in Cockayne syndrome-A patients with the same mutation and in siblings [PDF]

open access: green, 2021
Asma Chikhaoui   +12 more
openalex   +1 more source

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