Results 351 to 360 of about 127,063 (412)

Role of ATP hydrolysis by UvrA and UvrB during nucleotide excision repair

, 2001
Nora Goosen, Geri F. Moolenaar
openalex   +1 more source

Regulation of XPG-DNA damage binding dynamics by pre- and post-incision nucleotide excision repair factors and EXO1

Muniesa-Vargas A, Ribeiro-Silva C, Geverts B, Davó-Martínez C, van de Grint J, Ganpat M, Thijssen KL, Pothof J, Houtsmuller AB, Theil AF, Vermeulen W, Lans H.   +11 more
europepmc   +1 more source

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott, Olivia K. Wenger, Matthew Adams, Emma L. Baple, Andew Crosby, Joseph Leslie   +5 more
wiley   +1 more source

Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorders including Cornelia de Lange Spectrum (CdLSp), for which the prevalence of cancer cases remains unclear.
Laura Rigotti, Stefano Rebellato, Antonella Lettieri, Silvia Castiglioni, Milena Mariani, Simona Totaro, Claudia Saitta, Cristina Gervasini, Grazia Fazio, Valentina Massa, Giovanni Cazzaniga, Angelo Selicorni   +11 more
wiley   +1 more source

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Association Between Polygenic Risk and Symptom Severity Change After Cognitive Behavioral Therapy for Obsessive‐Compulsive Disorder

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A large proportion of patients undergoing cognitive behavior therapy (CBT) for obsessive‐compulsive disorder (OCD) do not respond sufficiently to treatment. Identifying predictors for change in symptom severity after treatment could inform clinical decision‐making, allow for better‐tailored interventions, and avoid treatment failure.
Julia Bäckman, John Wallert, Matthew Halvorsen, Bjorn Roelstraete, Elles de Schipper, Nora I. Strom, Thorstein Olsen Eide, Kira D. Höffler, Manuel Mattheisen, Bjarne Hansen, Gerd Kvale, Kristen Hagen, Jan Haavik, Nordic OCD and Related Disorders Consortium (NORDiC), Julia Bäckman, Long Long Chen, James J. Crowley, Elles de Schipper, Diana Pascal, Jan Haavik, Kristen Hagen, Matthew W. Halvorsen, Bjarne Hansen, Kira D. Höffler, Fredrik Johansson, Anna K. Kähler, Elinor K. Karlsson, Gerd Kvale, Paul Lichtenstein, Kerstin Lindblad‐Toh, Manuel Mattheisen, David Mataix‐Cols, Kathleen Morrill, Christian Rück, Thorstein Olsen Eide, Nora I. Strom, John Wallert, David Mataix‐Cols, Christian Rück, James J. Crowley   +39 more
wiley   +1 more source

The cumulative analgesic effect of repeated electroacupuncture is modulated by Adora3 in the SCDH of mice with neuropathic pain

Animal Models and Experimental Medicine, EarlyView.
Neuropathic pain management via repeated electroacupuncture. Abstract Background Existing remedial approaches for relieving neuropathic pain (NPP) are challenging and open the way for alternative therapeutic measures such as electroacupuncture (EA). The mechanism underlying the antinociceptive effects of repeated EA sessions, particularly concerning ...
Faisal Ayub Kiani, Hao Li, Panpan Guo, Qiulin Zhang, Mahmoud M. Abouelfetouh, Mingxing Ding, Yi Ding   +6 more
wiley   +1 more source

Effects of Dictyophora polysaccharide on cerebellar Purkinje cell degeneration in a chronic alcohol mouse model

Animal Models and Experimental Medicine, EarlyView.
In an ethanol (EtOH)‐treated mouse model, increases in the NLRP3 inflammasome proteins, PC degeneration, and motor coordination disorders were observed. DIP suppressed the NLRP3‐ASC‐caspase‐1 signaling pathway, and alleviated the motor deficits and cerebellar pathological changes in chronic EtOH‐treated mice.
Jian Zhang, Zhihui Dai, Huanhuan Yu, Baofei Sun, Jiuyang Ding, Yuanhe Wang   +5 more
wiley   +1 more source

Mapping Molecular Pathways of Multiple Sclerosis: A Gene Prioritization and Network Analysis of White Matter Pathology Transcriptomics

Annals of Neurology, EarlyView.
Objectives Rapid advances in transcriptomics have driven efforts to identify deregulated pathways in multiple sclerosis (MS) tissues, though many detected differentially expressed genes are likely false positives, with only a small fraction reflecting actual pathological events. Robust, integrative methods are essential for accurately understanding the
Gianmarco Abbadessa, Ai Nagano, Simon Hametner, Owain Howell, David Owen, Artemis Papadaki, Prashant Srivastava, Simona Bonavita, Roberta Magliozzi, Richard Reynolds, Mie Rizig, Richard Nicholas   +11 more
wiley   +1 more source