Results 91 to 100 of about 2,256,617 (260)

Roles of poly(ADP-ribose) polymerase 1 and mitophagy in progeroid syndromes as well as physiological ageing

Exploration of Medicine, 2023
Progeroid syndromes are characterized by clinical signs of premature ageing, which may contain several diseases such as Werner syndrome, Bloom syndrome, Rothmund-Thomson syndrome, Hutchinson-Gilford progeria syndrome, and Cockayne syndrome.
Naoko Suga, Yuka Ikeda, Sayuri Yoshikawa, Satoru Matsuda   +3 more
doaj   +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, Natalia Semenova, Tatiana Cherevatova, Mikhail Skoblov   +3 more
wiley   +1 more source

Atypical features and de novo heterozygous mutations in two siblings with Cockayne syndrome

Molecular Genetics & Genomic Medicine, 2020
Background Cockayne syndrome (CS) is a rare autosomal recessive disorder which displays multiorgan dysfunction, especially within the nervous system including psychomotor retardation, cerebral atrophy, microcephaly, cognitive dysfunction, mental ...
Shuiyan Wu, Ying Liu, Qian Zhang, Xiangying Meng, Linlin Huang, Zhong Xu, Chunxu Zhang, Ying Li, Ting Chen, Zhenjiang Bai   +9 more
doaj   +1 more source

Cockayne Syndrome

Boletin medico del Hospital Infantil de Mexico
Hafsi W, Saleh HM.
europepmc   +2 more sources

Snf2 family ATPases and DExx box helicases:differences and unifying concepts from high-resolution crystal structures [PDF]

, 2006
Proteins with sequence similarity to the yeast Snf2 protein form a large family of ATPases that act to alter the structure of a diverse range of DNA–protein structures including chromatin. Snf2 family enzymes are related in sequence to DExx box helicases,
Aasland, Ahne, Akhtar, Andrew Flaus, Asturias, Auble, Auble, Auble, Bazett-Jones, Becker, Beerens, Bouazoune, Boyer, Boyer, Briggs, Caruthers, Corona, Cote, Dasgupta, Davis, Deaconescu, Dhalluin, Dumont, Durr, Eisen, Fan, Fitzgerald, Flaus, Flaus, Goldmark, Gorbalenya, Grune, Harald Dürr, Havas, Hishida, Ito, Jaskelioff, Kagalwala, Karl-Peter Hopfner, Kawaoka, Kim, Laurent, Laurent, Levin, Levin, Lia, Mahdi, Mannhaupt, Mizuguchi, Morillon, Myong, Peterson, Petukhova, Petukhova, Phelan, Pray-Grant, Quinn, Richmond, Ristic, Saha, Saha, Schild, Sengoku, Serebrov, Shen, Shinohara, Simic, Sims, Singleton, Singleton, Singleton, Smith, Soultanas, Sprouse, Stanley, Studitsky, Subramanya, Sukhodolets, Svejstrup, Swagemakers, Tai, Thoma, Tom Owen-Hughes, Tran, Tsukiyama, van den Boom, van Gool, Van Komen, Velankar, Wang, Whitehouse, Woudstra, Yu, Yu, Zhang, Zofall   +95 more
core   +4 more sources

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
wiley   +1 more source

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies [PDF]

, 2014
Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS).
Bernard, Geneviève, Helman, Guy, Leventer, Richard J., McNeill, Nathan H., on behalf of the GLIA Consortium, Parikh, Sumit, Patterson, Marc C., Pizzino, Amy, Rizzo, William B., Schmidt, Johanna L., Simons, Cas, Taft, Ryan J., van der Knaap, Marjo S., van Hove, Johan, Vanderver, Adeline   +14 more
core   +2 more sources

RNA‐Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics

Human Mutation, Volume 2026, Issue 1, 2026.
Accurate identification of the genetic determinants of rare diseases is essential for effective recurrence‐risk management and informed reproductive decision‐making. Although whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) have significantly improved diagnostic capabilities, a subset of affected families still receives no definitive ...
Jinlin Ren, Congling Dai, Fei Meng, Pan Zhang, Chunbo Xie, Wenjuan Xiao, Wenbin He, Shimin Yuan, Xiurong Li, Qianjun Zhang, Weiling Tang, Liang Hu, Zixu Chen, Guangxiu Lu, Juan Du, Sicong Zeng, Ge Lin, Stuart Scott   +17 more
wiley   +1 more source

ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice

Nature Communications, 2017
Cockayne syndrome group B protein (CSB) is a multifunctional chromatin remodeler involved in double-strand break repair. Here the authors investigate the molecular post-translational signals regulating CSB activity.
Nicole L. Batenburg, John R. Walker, Sylvie M. Noordermeer, Nathalie Moatti, Daniel Durocher, Xu-Dong Zhu   +5 more
doaj   +1 more source

Cockayne syndrome proteins CSA and CSB maintain mitochondrial homeostasis through NAD+ signaling

bioRxiv, 2020
Background Cockayne syndrome (CS) is a rare premature aging disease, most commonly caused by mutations of the genes encoding the CSA or CSB proteins. CS patients display cachectic dwarfism and severe neurological manifestations and have an average life ...
M. Okur, E. Fang, Elayne M. Fivenson, V. Tiwari, D. Croteau, V. Bohr   +5 more
semanticscholar   +1 more source