Results 41 to 50 of about 4,495 (156)

Heart Transplant for Noncompaction Cardiomyopathy in NONO‐Related Syndromic Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Silent NONO variant c.348G>A caused exon 4 skipping, frameshift, and nonsense‐mediated decay in a boy with neurodevelopmental delay and severe left ventricular noncompaction requiring heart transplantation in early childhood. Stable graft function at 14 years highlights favorable long‐term cardiac outcome; literature review confirms a recognizable ...
Julia S. Singer, Dorota Garczarczyk‐Asim, Miriam Michel, Thomas Müller, Lukas Hackl, Andreas R. Janecke   +5 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

Iranian Journal of Child Neurology, 2014
How to Cite This Article: Javadzadeh M. Cockayne Syndrome. Iran J Child Neurol. Autumn 2014;8;4(Suppl.1):18-19. pls see pdf.
openaire   +1 more source

Unravelling a Rapid Radiation: Biogeography and Niche Evolution of Carex sect. Echinochlaenae Kük. (Cyperaceae)

Journal of Biogeography, Volume 53, Issue 6, June 2026.
ABSTRACT Aim Carex section Echinochlaenae has a disjunct distribution across the Southern Hemisphere. It displays a clear center of diversity in New Zealand coupled with extreme morphological and ecological diversification, suggesting a potential evolutionary radiation.
A. Morales‐Alonso, K. A. Ford, M. Sanz‐Arnal, M. Míguez, P. García‐Moro, T. Villaverde, P. Jiménez‐Mejías, S. Martín‐Bravo   +7 more
wiley   +1 more source

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, Volume 70, Issue 6, Page 561-578, June 2026.
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

Progeroid Cockayne Syndrome

Вопросы современной педиатрии
Cockayne syndrome is a rare genetic disease from the group of premature aging syndromes associated with impaired DNA repair. The syndrome is autosomal recessive, and it is caused by pathogenic variants in ERCC8, ERCC6, XPB (ERCC3), XPD (ERCC2), and XPG ...
Anastasiya L. Kungurtseva, Alisa V. Vitebskaya   +1 more
doaj   +1 more source

Nucleotide excision repair genes shaping embryonic development [PDF]

Open Biology, 2019
Nucleotide excision repair (NER) is a highly conserved mechanism to remove helix-distorting DNA lesions. A major substrate for NER is DNA damage caused by environmental genotoxins, most notably ultraviolet radiation.
Sofia J. Araújo, Isao Kuraoka
doaj   +1 more source

Parasympathetic overdrive as a cause of overactive bladder in a high‐fat‐diet‐induced obesity mouse model

The Journal of Physiology, Volume 604, Issue 12, Page 4945-4967, 15 June 2026.
Abstract figure legend Obesity and metabolic syndrome (MetS) are well‐known major risk factors for overactive bladder (OAB). Mechanisms underlying obesity‐/MetS‐associated OAB were explored using a high‐fat‐diet (HFD)‐induced obesity mouse model. HFD‐induced obesity/MetS mice developed an OAB phenotype characterized by enlarged non‐voiding contractions
Ayu Sugiura, Retsu Mitsui, Kyoko Miwa‐Nishimura, Hikaru Hashitani   +3 more
wiley   +1 more source

Mapping the Cerebral Organoid Landscape: A Systematic Review of Preclinical 3D Models in Neuroscience

Advanced Healthcare Materials, Volume 15, Issue 18, 15 May 2026.
Cerebral organoids are transforming brain research, yet the field remains fragmented. This comprehensive systematic review maps 738 studies published between 2014 and 2024 to uncover trends, gaps, and opportunities across neuroscience. Introducing OrganoidMap—an interactive, open‐access platform to explore and compare models—this work enables ...
Anna Wolfram, Vanessa Arnold, Maik Wolfram‐Schauerte, Anastassiya Moskalchuk, Caroline Trust, Marie Vontz, Mona Scheurenbrand, Vijayasarathy Sampath‐Kumar, Sogand Ahari, Carlos Romero‐Nieto, Lisa Sevenich   +10 more
wiley   +1 more source

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

Clinical Genetics, Volume 109, Issue 5, Page 984-985, May 2026.
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