Results 221 to 230 of about 409,247 (302)

Complex chromosomal rearrangements induce embryonic chromosomal imbalance and significantly compromise reproductive outcomes. [PDF]

Contracept Reprod Med
Lan Y, Deng X, He S, Luo J, Su J, Li W, Zhou C, Tang X, Wei Y, Huang M, Luo J, Shu J, Wang C, Zhao X, Zhou H, Huang P.   +15 more
europepmc   +1 more source

Engineering Biology Beyond Single Genes: Advances and Challenges in Multiplex Genome Editing

Animal Research and One Health, EarlyView.
Multiplex genome editing is transforming genome engineering from single‐gene perturbation to network‐level control, yet its broader application remains limited by challenges in gRNA array engineering, delivery technologies, and safety management. Emerging AI‐driven approaches are accelerating guide RNA design and CRISPR effector optimization for ...
Linli Wang, Yongbin Liu, Hongbing Han
wiley   +1 more source

Prenatal Predictors of Fetal and Neonatal Death in Truncus Arteriosus: A Fetal Heart Society Research Collaborative Study. [PDF]

J Am Heart Assoc
Cox K, Husain N, Ansah D, Knight T, Channing A, Cuneo B, Dhanantwari P, Donofrio M, Geiger M, Howley L, Hornberger LK, Javeri S, Jones EG, Kaplinski M, Kavanaugh-McHugh A, Kiaffas M, Kosiv K, Laternser C, Low O, Moon-Grady AJ, Peyvandi S, Pinto N, Porlier A, Prosnitz A, Rao R, Schidlow D, Sinkovskaya E, Srinivasan R, Stiver C, Quezada E, Arya B, Patel S.   +31 more
europepmc   +1 more source

Genetic and population analyses implicate thyroid‐related regulation of RNF144B in chondrocalcinosis

Arthritis &Rheumatology, Accepted Article.
Objectives Chondrocalcinosis, characterized by calcium crystal deposition within articular cartilage, affects 5–15% of the general population and has recently been identified as an osteoarthritis risk factor. However, Its biological pathways remain unclear.
Yahong Wu, Yanning Xu, Paul C. Okoro, Sirine Saafi, Jard de Vries, Xiaoyi Qi, Edwin H.G. Oei, Sita Bierma‐Zeinstra, Trudy Voortman, David Felson, Joyce BJ van Meurs, Layal Chaker, J. Mark Wilkinson, Michelle S. Yau, Jessica Bertrand, Cindy G. Boer   +15 more
wiley   +1 more source

Favorable Response to Immunosuppressive Therapy in Severe Aplastic Anemia With Trisomy 8 and BCOR Mutation: Sustained Hematologic Response Despite Evolving Mutational Profile-A Case Report. [PDF]

Clin Case Rep
Shen M, Wei Y, Shao B, Qin C, Jia X, Jiang H, Jia J.   +6 more
europepmc   +1 more source

CASTOR1 regulates humoral immune responses and contributes to the pathogenesis of systemic lupus erythematosus

Arthritis &Rheumatology, Accepted Article.
Objectives CASTOR1 senses arginine and regulates mammalian target of rapamycin complex 1 (mTORC1), a central metabolic signaling molecule. This study aimed to elucidate the roles of CASTOR1 in humoral immune responses. Methods We analyzed human B cell transcriptomes from healthy controls and patients with systemic lupus erythematosus (SLE) via ...
Takeshi Kusuda, Toshihiko Komai, Takahiro Itamiya, Tatsuki Abe, Tomohisa Okamura, Keishi Fujio   +5 more
wiley   +1 more source

Case Report: Severe neonatal lupus in an infant with homozygous <i>NCF1</i> p.Arg90His variant and a <i>der</i>(14)<i>t</i>(4;14) translocation. [PDF]

Front Immunol
Yu X, Lou J, Zhong Y, Zhang L.
europepmc   +1 more source

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

Arthritis &Rheumatology, Accepted Article.
Objectives 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

Identification of Complex Chromosomal Rearrangement Involving Chromosomes 10, 18, and 19 in a Family Undergoing Prenatal Diagnosis: Case Report. [PDF]

Clin Case Rep
Zhou D, Lian W, Wang H, Huang R, Deng J, Jiao S, Zhou Q.   +6 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