Results 241 to 250 of about 374,748 (298)

HnRNP M expression rescues neurodegeneration in neuronal intranuclear inclusion disease mouse model by restoring dysregulated RNA splicing and transcription. [PDF]

Cell Biosci
Pan Y, Li Y, Jiang Y, Wang X, Wan J, Sun Q, Tian Y, Shen L, Jiang H, Tang B, Yao B, Liu Q.   +11 more
europepmc   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +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

Kaiso mediates transcription and RNA splicing in colorectal carcinoma: role of BRCA1 in the Kaiso enhanceosome. [PDF]

Open Biol
Luo W, Tripathi MK, Liu Q, Chen L, Cowan RW, Daniel JM, Yan C, Richmond A, Reynolds AB.   +8 more
europepmc   +1 more source

Pharmacological CLK inhibition disrupts SR protein function and RNA splicing blocking cell growth and migration in TNBC. [PDF]

Breast Cancer Res
Liu N, van der Velde JJS, Ramdjielal S, Koedoot E, van Overbeek NK, Batenburg D, Vertegaal ACO, van de Water B, Le Dévédec SE.   +8 more
europepmc   +1 more source

Tumour-wide RNA splicing aberrations generate actionable public neoantigens. [PDF]

Nature
Kwok DW, Stevers NO, Etxeberria I, Nejo T, Colton Cove M, Chen LH, Jung J, Okada K, Lakshmanachetty S, Gallus M, Barpanda A, Hong C, Chan GKL, Liu J, Wu SH, Ramos E, Yamamichi A, Watchmaker PB, Ogino H, Saijo A, Du A, Grishanina NR, Woo J, Diaz A, Hervey-Jumper SL, Chang SM, Phillips JJ, Wiita AP, Klebanoff CA, Costello JF, Okada H.   +30 more
europepmc   +1 more source

Inhibition of PfCLK3 a master regulator of malaria parasite RNA-splicing provides the basis for a radical cure for malaria

Janha O, Olaniyan N, Diam GK, Sharma S, Beraldi D, Jamieson AG, Bozdech Z, Tobin AB, Modrzynska K.   +8 more
europepmc   +1 more source

Molecular impact of mutations in RNA splicing factors in cancer. [PDF]

Mol Cell
Zhang Q, Ai Y, Abdel-Wahab O.
europepmc   +1 more source