Results 81 to 90 of about 2,256,617 (260)

Unusual Disease‐Progression in Two Siblings With Xeroderma Pigmentosum Group G

Clinical Genetics, EarlyView.
Protein truncation mutations in the gene for XPG nuclease cause a very severe clinical phenotype. Two siblings have splicing mutations, which result in in‐frame deletions and a less severe phenotype.
Elena Botta, Heather Fawcett, Donata Orioli, Hiva Fassihi, Alan R. Lehmann   +4 more
wiley   +1 more source

Short-term NAD+ supplementation prevents hearing loss in mouse models of Cockayne syndrome

npj Aging and Mechanisms of Disease, 2020
Age-related hearing loss (ARHL) is one of the most common disorders affecting elderly individuals. There is an urgent need for effective preventive measures for ARHL because none are currently available.
M. Okur, Beatrice Mao, Risako Kimura, Scott Haraczy, T. Fitzgerald, Kamren Edwards-Hollingsworth, Jane Y. Tian, Wasif A. Osmani, D. Croteau, M. Kelley, V. Bohr   +10 more
semanticscholar   +1 more source

Three DNA polymerases, recruited by different mechanisms, carry out NER repair synthesis in human cells [PDF]

, 2010
Nucleotide excision repair (NER) is the most versatile DNA repair system that deals with the major UV photoproducts in DNA, as well as many other DNA adducts.
Cloney, Ross, Fousteri, Maria I, Japers, Nicolaas G, Lehmann, Alan R, Limsirichaikul, Siripan, Miki, Yoshio, Mullenders., Leon H F, Nakazawa, Yuka, Niimi, Atsuko, Ogi, Tomoo, Overmeer, René M, Takenaka, Katsuya, Volker, Marcel, Yamashita, Shunichi   +13 more
core   +3 more sources

Continued Involvement: A Scoping Review on Family Members' Needs and Experiences Collaborating With Support Staff for Relatives With Intellectual Disabilities Living Outside the Family Home

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative.
Frances R. Vereijken, Noud Frielink, Andrew Jahoda, Petri J. C. M. Embregts   +3 more
wiley   +1 more source

Transcriptional changes in trichothiodystrophy cells [PDF]

, 2008
Mutations in three of the genes encoding the XPB, XPD and TTDA components of transcription factor TFIIH can result in the clinical phenotype of trichothiodystrophy (TTD).
Alan Lehmann, Bergmann, Boerma, Bootsma, Botta, Broughton, Coin, Coin, Compe, Compe, da Costa, de Boer, de Boer, Doniger, Drane, Drapkin, Dubaele, Giglia-Mari, Hohl, Hosack, Itin, Jacky Pallas, Judith Offman, Keriel, Koch-Paiz, Kraemer, Kraemer, Lee, Lehmann, Lehmann, Lehmann, Mike Hubank, Nakabayashi, Nipurna Jina, Park, Pemble, Ranish, Reardon, Schaeffer, Selzer, Sesto, Smyth, Storey, Taylor, Therina Theron, Viprakasit, Wu   +46 more
core   +2 more sources

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, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation

Cell Reports, 2016
Cockayne syndrome (CS) is a severe neurodevelopmental disorder characterized by growth abnormalities, premature aging, and photosensitivity. Mutation of Cockayne syndrome B (CSB) affects neuronal gene expression and differentiation, so we attempted to ...
Yuming Wang, Jace Jones-Tabah, Probir Chakravarty, Aengus Stewart, Alysson Muotri, Rebecca R. Laposa, Jesper Q. Svejstrup   +6 more
doaj   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Rapamycin Exerts Its Geroprotective Effects in the Ageing Human Immune System by Enhancing Resilience Against DNA Damage

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, Eleanor J. Jones, Nima Gharahdaghi, Daniel J. Wilkinson, Kenneth Smith, Philip J. Atherton, Anna K. Simon, Lynne S. Cox, Ghada Alsaleh   +8 more
wiley   +1 more source

Xeroderma pigmentosum-Cockayne syndrome complex

Orphanet Journal of Rare Diseases, 2017
Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature.
Valerie Natale, Hayley Raquer
doaj   +1 more source