Results 81 to 90 of about 2,306,587 (203)

Biallelic Truncating Variant in LRGUK Is Associated With Severe Multiple Morphological Abnormalities of the Sperm Flagella and Sperm Nuclear Defects in Humans

Clinical Genetics, Volume 110, Issue 5, Page 538-548, November 2026.
A homozygous truncating variant in LRGUK results in loss of the LRGUK protein and causes multiple morphological abnormalities of the flagella (MMAF), disrupted axonemal architecture, central pair defects, abnormal chromatin organization, and severe male infertility, establishing LRGUK as a novel human infertility gene.
Wiâme Mokkedem, Zeina Wehbe, Anne‐Laure Barbotin, Angèle Boursier, Célia Tebbakh, Nicolas Thierry‐Mieg, Marie Bidart, Antonella Migliaccio, Rosanna Chianese, Christophe Arnoult, Raoudha Zouari, Zine‐Eddine Kherraf, Pierre F. Ray, Guillaume Martinez, Charles Coutton   +14 more
wiley   +1 more source

Mutant Wilms’ tumor 1 (WT1) mRNA with premature termination codons in acute myeloid leukemia (AML) is sensitive to nonsense-mediated RNA decay (NMD) [PDF]

Leukemia, 2009
Mutant Wilms’ tumor 1 ( WT1 ) mRNA with premature termination codons in acute myeloid leukemia (AML) is sensitive to nonsense-mediated RNA decay (NMD)
Abbas, Saman, Erpelinck - Verschueren, Claudia, Goudswaard, Chantal, Löwenberg, Bob, Valk, Peter   +4 more
openaire   +2 more sources

A Combination of Alleles in LMOD2 and a lncRNA is Strongly Associated With Myxomatous Mitral Valve Disease in Cavalier King Charles Spaniels

Animal Genetics, Volume 57, Issue 5, October 2026.
ABSTRACT A previous genome‐wide association study identified regions on canine chromosome (cfa) 13 and 14 associated with early onset myxomatous mitral valve disease (MMVD) in Cavalier King Charles Spaniels (CKCS). In the present study, whole genome sequencing (WGS) of 9 CKCS cases (mitral regurgitation (MR) before 4.5 years or congestive heart failure
Lisbeth Høier Olsen, Arney Eva Gunnlaugsdóttir, Majbritt Busk Madsen, Isabella Jane Larsen, Maria Josefine Ubbe Reimann, Foteini Papadaki, Ingrid Ljungvall, Jens Häggström, Torben Martinussen, Henrik Duelund Pedersen, Torkel Falk, Merete Fredholm, Peter Karlskov‐Mortensen   +12 more
wiley   +1 more source

When a ribosome encounters a premature termination codon [PDF]

BMB Reports, 2013
In mammalian cells, aberrant transcripts harboring a prematuretermination codon (PTC) can be generated by abnormal orinefficient biogenesis of mRNAs or by somatic mutation.Truncated polypeptides synthesized from these aberranttranscripts could be toxic ...
Jungwook Hwang, Yoon Ki Kim
doaj   +1 more source

Splicing Factor Mutations in Clonal Hematopoiesis and Progression to Myeloid Neoplasms

Cancer Science, Volume 117, Issue 10, Page 2609-2618, October 2026.
Splicing factor (SF)‐mutant CH is characterized by relatively late emergence and accelerated clonal expansion in older individuals. This review summarizes its clonal dynamics, disease‐associated consequences of SF mutations in myeloid neoplasms, and candidate mechanisms that may contribute to age‐dependent selection.
Yang Lyu, Yutong Zhang, Ayana Kon
wiley   +1 more source

FMRP-mediated spatial regulation of physiologic NMD targets in neuronal cells

Genome Biology
In non-polarized cells, nonsense-mediated mRNA decay (NMD) generally begins during the translation of newly synthesized mRNAs after the mRNAs are exported to the cytoplasm.
Tatsuaki Kurosaki, Xavier Rambout, Lynne E. Maquat   +2 more
doaj   +1 more source

eIF4A3 Phosphorylation by CDKs Affects NMD during the Cell Cycle

Cell Reports, 2019
Summary: Exon junction complexes (EJCs) loaded onto spliced mRNAs during splicing serve as molecular markers for various post-transcriptional gene-regulatory processes, including nonsense-mediated mRNA decay (NMD).
Incheol Ryu, You-Sub Won, Hongseok Ha, Eunjin Kim, Yeonkyoung Park, Min Kyung Kim, Do Hoon Kwon, Junho Choe, Hyun Kyu Song, Hosung Jung, Yoon Ki Kim   +10 more
doaj   +1 more source

Genetic landscape of a neonatal hypogonadotropic hypogonadism series: Novel variants and phenotypic spectrum

Journal of Neuroendocrinology, Volume 38, Issue 10, October 2026.
Abstract To describe clinical presentation and genetic findings in a cohort of infants with congenital hypogonadotropic hypogonadism (CHH) diagnosed before 2 years of age. From a large cohort of patients who underwent next‐generation sequencing (NGS) for CHH between 2019 and 2025, we identified all patients tested at ≤2 years of age.
Karine Aouchiche, Laure Van Wormhoudt, Kevin Perge, Joanne Dornberger, Cindy Colson, Marine Delagrange, Clara Leroy, Jennifer Ledmazel, Vanessa Menut, Jessica Benarrous Jaillet, Djamel Bendifallah, Mohamad Hage Chehade, Christelle Dib, Anne Barlier, Thierry Brue, Rachel Reynaud, Alexandru Saveanu   +16 more
wiley   +1 more source

Systematic analysis of nonsense variants uncovers peptide release rate as a novel modifier of nonsense-mediated mRNA decay

Cell Genomics
Summary: The phenotypic impact of nonsense variants is determined by nonsense-mediated mRNA decay (NMD), which degrades transcripts with premature termination codons (PTCs).
Divya Kolakada, Rui Fu, Nikita Biziaev, Alexey Shuvalov, Mlana Lore, Amy E. Campbell, Michael A. Cortázar, Marcin P. Sajek, Jay R. Hesselberth, Neelanjan Mukherjee, Elena Alkalaeva, Zeynep H. Coban-Akdemir, Sujatha Jagannathan   +12 more
doaj   +1 more source

RBM10 Deficiency Promotes Anti‐PD‐1 Resistance in LUAD via STING Alternative Splicing‐Driven CCL7 Signaling and Macrophage Polarization

Advanced Science, Volume 13, Issue 49, 3 September 2026.
RBM10 deficiency promotes anti‐PD‐1 resistance in lung adenocarcinoma by altering STING alternative splicing, which enhances CCL7 secretion and CCR2‐dependent M2 macrophage polarization. A positive feedback loop via mitochondrial transfer sustains this immunosuppression.
Weitong Gao, Ruqiong Wang, Bo An, Lishuang Qi, Zihan Jing, Xingmei Ren, Yang Zhou, Mingjun Xu, Jiaojiao Li, Jie Liu, Liying Wang, Gang Xu, Rou Li, Dexin Jia, Yan Yu   +14 more
wiley   +1 more source