Results 191 to 200 of about 117,100 (294)

Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease. [PDF]

Brain, 2023
Course MM, Gudsnuk K, Keene CD, Bird TD, Jayadev S, Valdmanis PN.   +5 more
europepmc   +1 more source

Gate‐Align‐SED: Semi‐Supervised Sound Event Detection via Adaptive Feature Gating and Cross‐Task Alignment in Situation Awareness

Advanced Intelligent Systems, EarlyView.
Overview of the proposed Gate‐Align‐SED, including two stages of training: (1) Mean‐Teacher SSL Training; and (2) Enhancer Model Training. In complex real‐world environments such as disaster monitoring, effective sound event detection (SED) is often hindered by the presence of noise and limited labeled data.
Jieli Chen, Li‐Minn Ang, Chee Shen Lim, Kah Phooi Seng, Jeremy Smith   +4 more
wiley   +1 more source

A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F. [PDF]

Mol Genet Genomic Med
Ma Q, Xu C, Xu X, Xiang Y.
europepmc   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Identification of a novel variant in <i>MLH1</i> intron causing aberrant splicing associated with Lynch syndrome. [PDF]

Gastroenterol Rep (Oxf)
Liu AX, Liu KH, Guo RY, Ying JM, Zou SM, Dong L.   +5 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

Aberrant Splicing as a Mechanism for Resistance to Cancer Therapies. [PDF]

Cancers (Basel)
Duzgun D, Oltean S.
europepmc   +1 more source

Genome editing of patient-derived iPSCs identifies a deep intronic variant causing aberrant splicing in hemophilia A. [PDF]

Blood Adv, 2023
Hiramoto T, Inaba H, Baatartsogt N, Kashiwakura Y, Hayakawa M, Kamoshita N, Nishimasu H, Nureki O, Kinai E, Ohmori T.   +9 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

Single‐Injection Multi‐Omics Analysis by Direct Infusion Mass Spectrometry

Angewandte Chemie, EarlyView.
A high‐throughput direct infusion mass spectrometry platform, enabled by gas‐phase ion mobility separation, supports single‐injection analysis of peptides, polar metabolites, and lipids. Coupled with custom software, it identified ∽1,300 proteins and ∽600 metabolites in ∽4.3 minutes per sample, and demonstrated broad utility in macrophage polarization ...
Yuming Jiang, Ivan Salladay‐Perez, Amanda Momenzadeh, Jesús Muñoz‐Estrada, Uktarsh Tripathi, Anthony J. Covarrubias, Jesse G. Meyer   +6 more
wiley   +2 more sources