Results 181 to 190 of about 64,882 (210)

Multi‐Cohort Analysis Reveals Genetic Predispositions to Clonal Hematopoiesis as Mutation‐Specific Risk Factors for Stroke

Advanced Genetics, Volume 6, Issue 1, March 2025.
This study comprehensively evaluated the differential effect of clonal hematopoiesis (CH) mutations on the risk of various stroke subtypes and functional recovery. It shows that TET2 is associated with small vessel stroke possibly via a pro‐inflammatory pathway. Abstract Recent observational studies have found an association between Clonal Hematopoesis
Shuyang Lin, Yang E. Li, Yan Wang
wiley   +1 more source

Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes. [PDF]

Int J Mol Sci
Maggi J, Feil S, Gloggnitzer J, Maggi K, Bachmann-Gagescu R, Gerth-Kahlert C, Koller S, Berger W.   +7 more
europepmc   +1 more source

AKT, ATR, and Notch Inhibitors Radiosensitize a Preclinical Model of Adenoid Cystic Carcinoma

Head &Neck, EarlyView.
ABSTRACT Background Adenoid Cystic Carcinoma (ACC) is a rare and lethal type of head and neck cancer. Standard therapy involves surgery followed by radiation therapy. The majority of ACC has MYB overexpression and MYB‐NFIB gene fusions, while Notch mutations are associated with aggressive behavior.
Shivani Thoidingjam, Sushmitha Sriramulu, Asya Haider Muratoglu, Stephen Brown, Oudai Hassan, Benjamin Movsas, Haythem Ali, Steven Chang, Patrick Ha, Farzan Siddiqui, Shyam Nyati   +10 more
wiley   +1 more source

Aberrant Splicing of COL4A5 Intronic Variant Contribute to the Pathogenesis of X-Linked Alport Syndrome: A Case Series. [PDF]

Int J Nephrol Renovasc Dis
Li Y, Yan X, Luo Z, Fu X, Li Z, Xu Q, Chen J, Yang J, Lu D.   +8 more
europepmc   +1 more source

Predominance of In‐Field Recurrence After Radiotherapy for Sinonasal Cancer: A Single‐Center Retrospective Study

Head &Neck, EarlyView.
ABSTRACT Background Sinonasal malignancies (SNM) are rare, heterogeneous tumors with poor prognosis. There is an unmet need to improve treatment outcomes. Despite advances in imaging and molecular classification, optimal curative radiotherapy (RT) strategies remain undefined.
M. de Ridder, L. J. van de Velde, T. de Bie, R. van Noortwijk, C. P. J. Raaijmakers, E. H. Voormolen, W. W. Braunius, R. de Bree, G. E. Breimer, L. A. Devriese, E. J. Smid, J. A. Rijken   +11 more
wiley   +1 more source

<i>CDC73</i> c.1155-3A>G is a pathogenic variant that causes aberrant splicing, disrupted parafibromin expression, and hyperparathyroidism-jaw tumor syndrome. [PDF]

JBMR Plus
Needleman L, Chun N, Sitaraman S, Tan M, Sellmeyer DE, Kebebew E, Annes JP.   +6 more
europepmc   +1 more source

Aberrant splicing of Ca_V1.2 calcium channel induced by decreased Rbfox1 enhances arterial constriction during diabetic hyperglycemia. [PDF]

Cell Mol Life Sci
Hou W, Yin S, Li P, Zhang L, Chen T, Qin D, Mustafa AU, Liu C, Song M, Qiu C, Xiong X, Wang J.   +11 more
europepmc   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source

A Systematic Identification of RBPs Driving Aberrant Splicing in Cancer

Lobato-Fernández C, Gimeno M, Martín AS, Anorbe A, Rubio A, Ferrer-Bonsoms JA.   +5 more
europepmc   +1 more source

A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts. [PDF]

Mol Genet Genomic Med
Wang S, Zhu YM, Xu C, Ding W, Jia H, Bian P, Xu B, Guo Y, Liu X.   +8 more
europepmc   +1 more source