Results 171 to 180 of about 5,713,314 (265)

SEC Mediates m6A Deposition and Transcription Pause Release to Drive Cell Identity Transition

Advanced Science, EarlyView.
The SEC promotes cell identity transitions by facilitating transcription pause release at key identity‐associated genes, including Klf4 and Myc during iPSC reprogramming and Nes and Tubb3 during ESC‐to‐neuroectodermal differentiation. During early iPSC reprogramming, this function additionally involves cooperation with METTL3‐associated m6A regulation.
Zhijing Zhang, Jingyi Xu, Yonghong Wu, Yitong Qu, Xinglin Hu, Yuchen Sun, Yanshuang Wu, Zhonghua Liu, Jiaqiang Wang, Lei Lei   +9 more
wiley   +1 more source

A novel RNA-binding activity of ECD contributes to U5 snRNP stability and pre-mRNA splicing. [PDF]

Nucleic Acids Res
Raza M, Rajan AR, Kalluchi A, Mohapatra B, Saleem I, Kennedy BB, Bhakat KK, Band H, Rowley MJ, Band V.   +9 more
europepmc   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

GPATCH11 ortholog Sap34 regulates pre-mRNA splicing by interacting with early spliceosomal complexes in Schizosaccharomyces pombe. [PDF]

Sci Rep
Cipakova I, Karika LO, Hronska L, Selicky T, Iaparov B, Karhanek M, Kohutova L, Barath P, Cipak L.   +8 more
europepmc   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

USB1 deficiency disrupts neutrophil maturation via RNA dysregulation independent of global pre-mRNA splicing. [PDF]

Animal Model Exp Med
Li H, Shi G, Tang J, Huang Y, Wang J, Lei X, Bai L.   +6 more
europepmc   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

Pre-mRNA splicing and its regulation in microalgae and cyanobacteria. [PDF]

Adv Biotechnol (Singap)
Do S, Liu Y, Huynh H, Liu Y, Li W, Chen MX, Du ZY.   +6 more
europepmc   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

CDK7-CDK11 axis in spliceosome regulation and pre-mRNA splicing. [PDF]

Nucleic Acids Res
Rájecký M, Gajdušková P, Maník P, Hluchý M, Hegedűsová E, Kryštofová K, Potěšil D, Martinková P, Slabá Z, Khirsariya P, Šebesta M, Paruch K, Friedel CC, Zdráhal Z, Blazek D.   +14 more
europepmc   +1 more source