Results 181 to 190 of about 2,151,922 (308)

Human Monocytic Models Reveal Genotype‐Dependent Inflammatory Programs in VEXAS Syndrome

Arthritis &Rheumatology, EarlyView.
Objective VEXAS syndrome is a severe X‐linked autoinflammatory disorder caused by somatic mutations in ubiquitin‐like modifier activating enzyme 1 (UBA1), with clinical outcomes that vary by UBA1 genotype. We aimed to elucidate genotype‐specific inflammatory programs and identify potential therapeutic targets.
Kana Higashitani, Tatsuma Ban, Yohei Kirino, Go R. Sato, Soichiro Adachi, Yuki Iizuka, Kayo Harita, Ayaka Maeda, Osamu Ohara, Hideaki Nakajima, Tomohiko Tamura   +10 more
wiley   +1 more source

Selective Regimes and Evolutionary Dynamics of Z and W Gametologs Across an Expanded Avian Neo-Sex Chromosome. [PDF]

Genome Biol Evol
Ellerstrand SJ, Hansson B.
europepmc   +1 more source

MDL‐800–Induced Sirtuin 6 Activation Decreases Age‐Associated Osteoarthritis in Mice

Arthritis &Rheumatology, EarlyView.
Objective Sirtuin 6 (SIRT6) is a nuclear‐localized histone deacetylase that regulates multiple pathways associated with aging. This study aimed to determine whether systemic administration of MDL‐800, a small molecule activator of SIRT6, decreases the severity of age‐associated osteoarthritis (OA) in mice.
Matheus Moreira Perez, Pranay Ramteke, Bahiyah Watson, Owen Haslam, Eirene Choi, Susan Chubinskaya, Mandy J. Peffers, William R. Davis, Jacqueline Shine, Brian O. Diekman, Richard F. Loeser, Theresa A. Freeman, Makarand V. Risbud, John A. Collins   +13 more
wiley   +1 more source

ALKBH5 is required to maintain proper SETDB1 protein levels associated with meiotic sex chromosome inactivation. [PDF]

Commun Biol
Chen Q, Xiang Y, Song Y, Wang S, Wu Q, Li Z, Chen Q, Zhang M, Zhu Y, Bai L.   +9 more
europepmc   +1 more source

Clinical and Genetic Factors Associated With Regression in Children With Autism Spectrum Disorders

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with complex genetic and environmental underpinnings. A clinically significant subset of children with ASD experience developmental regression (regASD), characterized by the acute loss of previously acquired skills. The mechanisms, predictors, and molecular basis of
Anna Maruani, Emma Delclaud, Paul Bruzeau, Richard Delorme, Anne‐Claude Tabet, Valérie Vantalon, Jonathan Levy, Pierre Ellul   +7 more
wiley   +1 more source

Impact of Prenatal Cell-Free DNA Screening on Sex Chromosome Aneuploidy Diagnoses in Infants and Children. [PDF]

Prenat Diagn
Kim DeLuca E, Wu AC, Zhang F, Wright DR, Kaimal A, Lee T.   +5 more
europepmc   +1 more source

Sex chromosome identification and genome curation from a single individual with SCINKD. [PDF]

Mol Biol Evol
Pinto BJ, Gable SM, Keating SE, Smith CH, Gamble T, Nielsen SV, Wilson MA.   +6 more
europepmc   +1 more source

Genomic Insights Into Risperidone Treatment Outcomes in Children and Adolescents: Experience From a Psychiatric Hospital Serving Rural Youth

Clinical Pharmacology &Therapeutics, EarlyView.
Risperidone is a commonly used antipsychotic for treating psychiatric illness in children and adolescents. There is a large variability in risperidone response and discontinuation rates remain high. Pharmacogenomics offers the opportunity to improve risperidone outcomes, yet studies in pediatric populations are limited.
Jack W. Staples, Shayna R. Killam, Karen E. Brown, Rachel Dalton, Elizabeth Sather, Qiang Chen, Joshua Loveland, Corbin Schwanke, Abdallah F. Elias, Kristin L. Bigos, Erica L. Woodahl   +10 more
wiley   +1 more source

Maternal Dipyrone Exposure and Risk of Major Congenital Malformations, Adverse Perinatal and Postnatal Outcomes: A Population‐Based Cohort Study

Clinical Pharmacology &Therapeutics, EarlyView.
Pain and fever are common in pregnancy. Dipyrone is widely used in Europe, Latin America, and parts of Asia, but is banned in other countries due to concerns about agranulocytosis. Evidence on its safety in pregnancy remains limited and inconsistent. This study aimed to evaluate whether maternal dipyrone use during the first‐ and third‐trimesters is ...
Itamar Ben Shitrit, Daphna Idan, Ariel Avraham Hasidim, Tal Michael, Amalia Levy, Gali Pariente, Eitan Lunenfeld, Sharon Daniel   +7 more
wiley   +1 more source

Sex-Chromosome-Dependent Ageing in Female Heterogametic Methylomes. [PDF]

Mol Ecol
Tangili M, Sudyka J, Furni F, Palsbøll PJ, Verhulst S.   +4 more
europepmc   +1 more source