Results 251 to 260 of about 197,929 (309)

The implications of alternative splicing regulation for maximum lifespan. [PDF]

Nat Commun
Jiang W, Zheng S, Chen L.
europepmc   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

TDP-43-driven alternative splicing of UQCRC2 modulates mitochondrial bioenergetics. [PDF]

Biol Direct
Xue X, Hou J, Zhang Z, Yang Z, Chang L, Yang Z, Liu S, Huang H, Mei L, Mi Y, Zheng P, Sun X.   +11 more
europepmc   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

The functional landscape of alternative splicing in hematopoietic lineage commitment. [PDF]

Nat Commun
Hu X, Wang J, Chen L, Yang Q, Tardaguila M, Mao B, Niu S, Xu Z, Wang G, Zhang D, Zhang Y, Zhou Z, Luo J, He Z, Liu D, Tang C, Soranzo N, Lin JW, Jia D, Chen L.   +19 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Transcriptional readthrough precedes alternative splicing programs triggered in CML cells by imatinib. [PDF]

Sci Adv
Podszywałow-Bartnicka P, Shine M, Lin J, Neugebauer KM.   +3 more
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

Alternative splicing: an underexplored layer in immune receptor regulation, systemic resistance and priming. [PDF]

Front Plant Sci
Aballay FE, León Sánchez IJ, Benelli C, Roychoudhry S, Cambiagno DA, Petrillo E, Cecchini NM.   +6 more
europepmc   +1 more source