Results 181 to 190 of about 155,866 (241)

RAD52 resolves transcription-replication conflicts to mitigate R-loop induced genome instability. [PDF]

Nat Commun
Jalan M, Sharma A, Pei X, Weinhold N, Buechelmaier ES, Zhu Y, Ahmed-Seghir S, Ratnakumar A, Di Bona M, McDermott N, Gomez-Aguilar J, Anderson KS, Ng CKY, Selenica P, Bakhoum SF, Reis-Filho JS, Riaz N, Powell SN.   +17 more
europepmc   +1 more source

The cGAS-STING pathway regulates microglial chemotaxis in genome instability

, 2023
Talbot EJ, Joshi L, Thornton P, Dezfouli M, Tsafou K, Perkinton M, Khoronenkova SV.   +6 more
europepmc   +1 more source

Phylogenetic systematics of Juncaceae

American Journal of Botany, EarlyView.
Abstract Premise Juncaceae has needed taxonomic revision for some time. Specifically, the genus Juncus s.l. is known to be paraphyletic because five small southern‐hemisphere genera have been shown repeatedly to be nested within it. In 2022, a new classification was proposed, based on phylogenies built from one nuclear and three plastid regions ...
Reed J. Kenny, Lenka Záveská Drábková, Daniel Potter   +2 more
wiley   +1 more source

Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes. [PDF]

Int J Mol Sci
Larizza L, Colombo EA.
europepmc   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Chromatin relaxation dynamics and histone PTMs in the early DNA damage response

Cancer Biology & Medicine
Jinqin Qian, Zhongyi Xie, Liqun Zhou, Wei-Guo Zhu   +3 more
doaj   +1 more source

The age-related decline of helicase function-how G-quadruplex structures promote genome instability. [PDF]

FEBS Lett
Frobel J, Hänsel-Hertsch R.
europepmc   +1 more source

The Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios, Dimitrios Ntelios, Thomas Zegkos, Despoina Parcharidou, Pavlos Rouskas, Sotirios Katranas, Ioannis Papoulidis, Vlasis Ninios, Antonios Ziakas, Georgios K. Efthimiadis   +9 more
wiley   +1 more source

DHX9 SUMOylation is required for the suppression of R-loop-associated genome instability. [PDF]

Nat Commun
Yang BZ, Liu MY, Chiu KL, Chien YL, Cheng CA, Chen YL, Tsui LY, Lin KR, Chu HC, Wu CP.   +9 more
europepmc   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source