Results 51 to 60 of about 4,495 (156)
When R‐Loops Go Awry: Genome Instability and Neurological Diseases
European Journal of Neuroscience, Volume 63, Issue 8, April 2026.DNA normally exists as a double helix formed by two complementary strands. During gene transcription, however, one strand of DNA can bind to RNA, causing the other DNA strand to be displaced. This creates a structure called an R‐loop. R‐loops play important roles in normal cellular processes such as gene expression, DNA replication, and transcription ...
Nur Rasyiqin Rasli, Yu Katsuyama
wiley +1 more source
Epidemiology of progressive intellectual and neurological deterioration in UK children
Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity +3 more
wiley +1 more source
The role of histone modifications in transcription regulation upon DNA damage
FEBS Letters, Volume 600, Issue 4, Page 418-438, February 2026.This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley +1 more source
Lijecnicki vjesnik, 1996 A 9-year-old girl with characteristic clinical signs of Cockayne's syndrome type I (cachectic dwarfism, "senile" like appearance, mental retardation, progressive neurologic and retinal degeneration) is presented. Computerized tomography and magnetic resonance imaging of the brain have shown a large malformation in cerebral posterior fossa.
M, Dumić +3 more
openaire +3 more sources
Aging Cell, Volume 25, Issue 2, February 2026.Using in vitro DNA damage assays in human T cells, ex vivo profiling of aged immune subsets and a small placebo‐controlled in vivo study, authors show that low‐dose rapamycin, a potent life‐extending mTOR inhibitor, enhances resilience against DNA damage in the human immune system.
Loren Kell +8 more
wiley +1 more source
RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita
Clinical Genetics, Volume 109, Issue 2, Page 346-351, February 2026.Using WGS and RNA analysis, we identified a branch point‐disrupting variant in the PARN gene and elucidated its pathogenic molecular mechanism in a child with atypical dyskeratosis congenita presentation. ABSTRACT Dyskeratosis congenita (DC) is a rare genetic disorder caused by impaired telomere maintenance, leading to diverse clinical manifestations ...
Daria Akimova +3 more
wiley +1 more source
Excited Skin Syndrome (Angry Back), What Do We Know About It? A Review of the Literature
Journal of Cosmetic Dermatology, Volume 25, Issue 2, February 2026.ABSTRACT Background In 1975, Mitchell brought up a theory that false positive reactions can be due to skin hyperirritability, called it “angry back syndrome” (ABS). The phenomenon is observed in patch testing of patients with several positive patch tests, mostly along with one or more strong reactions.
Amir Mohammad Beyzaee, Howard I. Maibach
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Cockayne Syndrome : A Report Of Two Siblings In A Family
Indian Journal of Dermatology, 2001 Family cases of cockayneâ€s syndrome are very rare. We report tow siblings in a family affected with this syndrome and highlight the significance of cutaneous features of this syndrome.
Thappa D.M +3 more
doaj
Promising Results With NAD Supplementation in Rare Diseases With Premature Aging and DNA Damage
Aging Cell, Volume 25, Issue 1, January 2026.Increased DNA damage leads to increased parylation, causing mitochondrial dysfunction. This happens when DNA repair is defective, for example in known diseases and DNA repair capacity varies between individuals, some being at higher risk for hyperparylation.
Vilhelm A. Bohr
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Neonatal onset Cockayne syndrome: A rare photogenodermatosis
Indian Journal of Paediatric Dermatology, 2016 Cockayne syndrome (CS) is a rare genodermatosis with autosomal recessive inheritance and around 180 cases have been reported worldwide. It results from mutation in genes ERCC8 and ERCC6 coding for proteins involved in transcription-coupled repair.
A L Senthil Kumar +3 more
doaj +1 more source