Exon skipping - Open Access .click

Results 131 to 140 of about 30,223 (276)

High‐Resolution Multiplexed Sequencing of Single‐Cell Full‐length Transcriptome Via Combinational Barcoded Tn5 Transposon Insertion

Advanced Science, Volume 13, Issue 1, 5 January 2026.
CBTi‐seq is reported, leveraging Tn5 transposase‐mediated molecular assembly of combinatorial barcodes and UMIs for high‐resolution multiplexed sequencing of the full‐length transcriptome in single cells. This approach achieves molecular resolution by end‐to‐end sequencing, enabling reconstruction of splice variants and accurate quantification of ...
Liyong He +14 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 +13 more
doaj +1 more source

First-line immunotherapy for lung cancer with MET exon 14 skipping and the relevance of TP53 mutations [PDF]

Miriam Blasi +21 more
openalex +1 more source

Long-Term Efficacy of Systemic Multiexon Skipping Targeting Dystrophin Exons 45–55 With a Cocktail of Vivo-Morpholinos in Mdx52 Mice [PDF]

, 2015
Yusuke Echigoya +9 more
openalex +1 more source

Exon Skipping as a Therapeutic for Neurofibromatosis Type I [PDF]

, 2021
Deeann Wallis +14 more
openalex +1 more source

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

American Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 205-214, January 2026.
ABSTRACT Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...
Russell Stewart +336 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 +4 more
doaj +1 more source

Rescue of severely affected dystrophin/utrophin-deficient mice through scAAV-U7snRNA-mediated exon skipping [PDF]

, 2012
Aurélie Goyenvalle +6 more
openalex +1 more source

P2.11-01 A Phase II Study of Tepotinib in Advanced Solid Cancers with MET exon 14 Skipping Mutation or Amplification; Results of Non-small Cell Lung Cancer [PDF]

, 2023
Yaewon Yang +16 more
openalex +1 more source

Emergence of BRCA Reversion Mutations in Prostate Cancer Prior to PARP Inhibitor Exposure: Clinical and Therapeutic Implications

Cancer Medicine, Volume 15, Issue 1, January 2026.
ABSTRACT Background Inactivating BRCA1/2 mutations confer sensitivity to poly(ADP‐ribose) polymerase inhibitors (PARPi) in prostate cancer (PCA). However, secondary BRCA1/2 reversion mutations (BRCArev) can restore BRCA function and mediate acquired PARPi resistance.
Douglas I. Lin +11 more
wiley +1 more source

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