Results 221 to 230 of about 240,839 (324)

Procollagen with Skipping of α1(I) Exon 41 Has Lower Binding Affinity for α1(I) C-telopeptide, Impaired in Vitro Fibrillogenesis, and Altered Fibril Morphology [PDF]

, 2002
Wayne A. Cabral, Andrzej Fertala, Laura K. Green, Jarmo Körkkö, Antonella Forlino, Joan C. Marini   +5 more
openalex   +1 more source

Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome

Clinical Genetics, Volume 107, Issue 6, Page 705-707, June 2025.
We characterized a novel ROGDI variant (NM_024589.3:c.646‐2A>G) identified in a family case of Kohlschütter‐Tönz Syndrome. This variant disrupts a canonical acceptor splice site, in intron 8. By combining RT‐PCR and targeted long‐read cDNA sequencing.
Miriam Essid, Sana Karoui, Mouna Zribi, Thouraya Ben Younes, Louis Januel, Estelle Lafont, Audrey Labalme, Meriem Ben Hafsa, Go Hun Seo, Safa Khatrouch, Hela Boudabous, Amel Ben Chehida, Damien Sanlaville, Houweyda Jilani, Lamia Benjemaa, Ichraf Kraoua, Gaetan Lesca, Nicolas Chatron   +17 more
wiley   +1 more source

Effect of chemical modification on the exon-skipping activity of heteroduplex oligonucleotides. [PDF]

Mol Ther Nucleic Acids
Shimo T, Hasegawa J, Yoshioka K, Nakatsuji Y, Aso K, Tachibana K, Nagata T, Yokota T, Obika S.   +8 more
europepmc   +1 more source

Protracted CLN3 Batten disease in mice that genetically model an exon-skipping therapeutic approach. [PDF]

Mol Ther Nucleic Acids, 2023
Centa JL, Stratton MP, Pratt MA, Osterlund Oltmanns JR, Wallace DG, Miller SA, Weimer JM, Hastings ML.   +7 more
europepmc   +1 more source

Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I [PDF]

, 2002
Kazuhiko Takahara, Ulrike Schwarze, Yasutada Imamura, Guy G. Hoffman, Helga V. Toriello, Lynne T. Smith, Peter H. Byers, Daniel S. Greenspan   +7 more
openalex   +1 more source

AXL and SRC in clear cell renal cell carcinoma: absence of mutations, rare alternative splicing events, but association of protein expression with poor prognosis

The Journal of Pathology: Clinical Research, Volume 11, Issue 3, May 2025.
Abstract Novel treatment options for metastatic renal cell carcinomas (RCC) include specific MET inhibitors, GAS6/AXL inhibitors, and SRC inhibitors. The interplay between c‐MET, SRC, AXL expression, and their gene mutation patterns in different renal carcinoma subtypes is unclear. To improve the understanding of these signaling pathways, we analyzed c‐
Muriel D Brada, Tülay Karakulak, Peter Schraml, Martina Haberecker, Dorothea Rutishauser, Jeffrey S Ross, Daniel Eberli, Holger Moch   +7 more
wiley   +1 more source

Valproic Acid Improves Antisense-Mediated Exon-Skipping Efficacy in <i>mdx</i> Mice. [PDF]

Int J Mol Sci
Phongsavanh M, Bizot F, Saoudi A, Gastaldi C, Le Coz O, Tensorer T, Brisebard E, Garcia L, Goyenvalle A.   +8 more
europepmc   +1 more source

Validation of the Idylla GeneFusion assay to detect fusions and MET exon-skipping in non-small cell lung cancers. [PDF]

Sci Rep, 2023
Gilson P, Pouget C, Belmonte R, Fadil S, Demange J, Rouyer M, Lacour J, Betz M, Dardare J, Witz A, Merlin JL, Harlé A.   +11 more
europepmc   +1 more source

A 931 + 2T → C transition in one COL1A2 allele causes exon 16 skipping in PROα2(I) mRNA and produces moderately severe OI

, 1995
Francesca Zolezzi, Antonella Forlino, Monica Mottes, Maurizia Valli, Alberto Sensi, Elisa Calzolari, Pier Franco Pignatti, Giuseppe Cetta   +7 more
openalex   +1 more source

Exon Skipping in Cardiac Troponin T of Turkeys with Inherited Dilated Cardiomyopathy [PDF]

, 2002
Brandon J. Biesiadecki, Jian‐Ping Jin
openalex   +1 more source