Results 261 to 270 of about 248,138 (311)

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Exploring the connection between RNA splicing and intellectual disability. [PDF]

Curr Opin Genet Dev
Caputo A, Schaffer AE.
europepmc   +1 more source

USB1 deficiency disrupts neutrophil maturation via RNA dysregulation independent of global pre‐mRNA splicing

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the essential role of USB1 in neutrophil maturation. In normal myeloid cells, USB1 acts as an RNA exonuclease, trimming RNA tails to maintain proper RNA network function, which supports the differentiation of myeloid progenitor cells into mature neutrophils.
Hang Li, Guiying Shi, Jiaming Tang, Yiying Huang, Jie Wang, Xuepei Lei, Lin Bai   +6 more
wiley   +1 more source

RNA splicing: Novel star in pulmonary diseases with a treatment perspective. [PDF]

Acta Pharm Sin B
Niu Z, Xu B, Li W, Sun J, Liang H.
europepmc   +1 more source

Biochemical and Immunohistochemical Associations of TDP‐43 and Cryptic RNA With Hippocampal and Amygdala Volumetrics in Alzheimer's Disease

Annals of Neurology, EarlyView.
Objective Immunohistochemically (IHC) measured transactive response DNA‐binding protein 43 (TDP‐43) inclusions are observed in Alzheimer's disease (AD) and are associated with medial temporal lobe atrophy. Accumulation of cryptic exons occurs in AD in response to TDP‐43 pathology.
Hossam Youssef, Rodolfo G. Gatto, Nikhil B. Ghayal, Virginia Estades Ayuso, Karen R. Jansen‐West, Judith A. Dunmore, Yuping Song, Mei Yue, Casey N. Cook, Michael DeTure, Bailey D. Rawlinson, Monica Castanedes‐Casey, Clifford R. Jack Jr, Ronald C. Petersen, Dennis W. Dickson, Leonard Petrucelli, Jennifer L. Whitwell, Mercedes Prudencio, Keith A. Josephs   +18 more
wiley   +1 more source

NAD⁺ reverses Alzheimer's neurological deficits via regulating differential alternative RNA splicing of <i>EVA1C</i>. [PDF]

Sci Adv
Ai R, Mao L, Jin X, Campos-Marques C, Zhang SQ, Pan J, Lagartos-Donate MJ, Cao SQ, Barros-Santos B, Nóbrega-Martins R, Katsaitis F, Yang G, Xie C, Kang X, Wang P, Novello M, Hu Y, Bergersen LH, Storm-Mathisen J, Kuroyanagi H, Escobar-Doncel B, González NV, Chaudhry FA, Wang Z, Zhang Q, Lu G, Sotiropoulos I, Niu Z, Chen G, Nair RR, Silva JM, Luo OJ, Fang EF.   +32 more
europepmc   +1 more source

USP39 at the crossroads of cancer immunity: regulating immune evasion and immunotherapy response through RNA splicing and ubiquitin signaling. [PDF]

Front Immunol
Zhou F, Li X, Sun Y, Wang Y, Niu K, Gao X, Zhang J, Chen T, Li Y, Zhao W, Mao B, Xu Q, Shi Y, He Z.   +13 more
europepmc   +1 more source

Bridging the Diagnostic Gap in Hereditary Cancers with Simple, Cost-Effective, High-Throughput RNA Splicing Analysis. [PDF]

J Mol Diagn
Amiot J, Levacher C, Thibaut LM, Lienard G, Vasseur S, Quenez O, Coutant S, Fourneaux S, Charbonnier F, Thorn H, Legros A, Aucouturier C, Castéra L, Leman R, Kasper E, Baert-Desurmont S, Krieger S, Ruminy P, Houdayer C.   +18 more
europepmc   +1 more source

SNP rs10748643 determines CD39 expression in T and NK cells through altering NFIC binding affinity rather than interfering with RNA splicing. [PDF]

Front Immunol
Gan C, Wu Q, Goronzy JJ, Zhang Y, Li L, Sheng H, Fang F.   +6 more
europepmc   +1 more source

The AMPK-related kinase NUAK1 regulates neuronal morphogenesis through the RNA splicing co-factor SON

Kerkhofs M, Meyer-Dilhet G, Polvèche H, Yandiev S, Tait-Mulder J, Lilla S, Sumpton D, Murphy DJ, Ahn EE, Bourgeois CF, Goillot E, Courchet J.   +11 more
europepmc   +1 more source