Results 161 to 170 of about 51,494 (318)

MET fusions and splicing variants in glioma: a landscape integrating clinical, pathological, and survival features

The Journal of Pathology: Clinical Research, Volume 12, Issue 3, May 2026.
Abstract MET alterations, including MET fusions and splicing variants (F/SVs), are linked to glioma progression, but the clinical features remain underexplored since the 2021 WHO classification of tumors of the CNS. We aimed to systematically depict the MET F/SVs and patient characteristics in a multicenter cohort focusing on clinical, pathological ...
Zheng Fang, Chengjun Zheng, Peng Wang, Xing Liu, Lingyu Liu, Guanzhang Li, Jiahan Dong, Qiaodong Chen, Delong Zhang, Yutong Feng, Ying Zhang, Zhaoshi Bao   +11 more
wiley   +1 more source

LINE-1 retrotransposition is a recurrent cause of MET exon 14 skipping in cancer [PDF]

Jennifer A. Karlow, Callan O'connor, Radwa Sharaf, Dean C. Pavlick, Andrej Savol, Christopher Darcy, Akshay Kakumanu, William Camara, Matthew Walsh, Tyler Janovitz, M. Kelley, Christine N Serway, Jerry W. Mitchell, Julia A. Elvin, Meagan Montesion, Kathleen H. Burns, G. Frampton   +16 more
openalex   +1 more source

Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Two unrelated Chinese male OTCD‐suspected patients harbored an OTC synonymous variant (c.663G>A, p.Lys221Lys) and a novel de novo in‐frame variant (c.756_761dupAGCAGC, p.Ala253_Ala254dup); minigene analysis confirmed the synonymous variant induces exon 6 skipping with 41 amino acid deletion (c.541_663del, p.Glu181_Lys221del).
Qingming Wang, Huimin Xiao, Fang Zhang, Hui Li, Juan Zhao, Haiming Yuan   +5 more
wiley   +1 more source

Exon-skipping Splice Variants of Excitatory Amino Acid Transporter-2 (EAAT2) Form Heteromeric Complexes with Full-length EAAT2 [PDF]

, 2010
Florian Gebhardt, Ann D. Mitrovic, Daniel F. Gilbert, Robert J. Vandenberg, Joseph W. Lynch, Peter R. Dodd   +5 more
openalex   +1 more source

Maternal Chrono‐Nutrition and Placental DNA Methylation: The BiSC Study

Molecular Nutrition &Food Research, Volume 70, Issue 9, 13 May 2026.
This is the first study to examine how the timing of a mother's meals during pregnancy relates to changes in placental DNA methylation, an epigenetic mark. We found that the timing of the last daily meal was most important. Some epigenetic changes were linked to genes involved in placental function and development, and the long‐term health consequences
Joana Llauradó‐Pont, Sofia Aguilar‐Lacasaña, Marta Cosin‐Tomas, Jordi Julvez, Oren Contreras‐Rodríguez, Manolis Kogevinas, Kyriaki Papantoniou, Elisa Gallo, Barbara N Harding, Martine Vrijheid, Payam Dadvand, Mariona Bustamante, Camille Lassale   +12 more
wiley   +1 more source

BINge: Multispecies Ortholog Clustering for Differential Gene Expression Analyses

Molecular Ecology Resources, Volume 26, Issue 4, May 2026.
ABSTRACT Differential gene expression (DGE) analysis enables researchers to investigate the link between gene expression and the phenotypic responses observed in organisms across time, experimental, or field conditions. Accurate quantification of gene expression is essential when performing DGE experiments, with a range of methods having been developed
Zachary Stewart, Dimitri Perrin, Alexie Papanicolaou, Peter Prentis   +3 more
wiley   +1 more source

From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.

PLoS Genetics
Pathogenic variants in the OCA2 gene result in oculocutaneous albinism. In humans and several other mammalian species, OCA2 is transcribed into two coding mRNAs, a major transcript that encodes the full-length protein and a minor transcript that skips in-
Elina Mercier, David-Alexandre Trégouët, Sébastien Campagne, Vincent Michaud, David J Green, Shahram Mesdaghi, Orane Le Gallais, Orphée Jouannigot-Castano, Daniel J Rigden, Catherine Estay-Ahumada, David Hicks, Panagiotis I Sergouniotis, Benoit Arveiler, Sophie Javerzat   +13 more
doaj   +1 more source

623. Dystrophin Exon 52-Deleted Pigs as a New Animal Model of Duchenne Muscular Dystrophy: Its Characterization and Potential as a Tool for Developing Exon Skipping Therapy [PDF]

, 2016
Yusuke Echigoya, Nhu Trieu, Kana Hosoki, William Duddy, Terence A. Partridge, Eric P. Hoffman, Joe N. Kornegay, Christopher S. Rogers, Toshifumi Yokota   +8 more
openalex   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 ‐Related Phenotype

Clinical Genetics, Volume 109, Issue 5, Page 972-977, May 2026.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Mesenchymal‐epithelial transition factor exon 14 skipping mutation‐positive granulocyte colony‐stimulating factor‐producing lung adenocarcinoma mimicking lung abscess: A case report

Respirology Case Reports
Granulocyte colony‐stimulating factor (G‐CSF)‐producing lung tumours are rare, with their imaging features and effective treatments remaining elusive. Similarly, mesenchymal‐epithelial transition (MET) exon 14 skipping mutations are also uncommon. Herein,
Yuka Izumiya, Hidesato Odaka, Toru Kikuchi, Yuri Takita, Takuo Tokairin   +4 more
doaj   +1 more source