Results 181 to 190 of about 30,223 (276)

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity

Clinical Genetics, Volume 109, Issue 1, Page 176-180, January 2026.
A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis, Afrodite Kampouraki, Danai Veltra, Faidon‐Nikolaos Tilemis, Maria Vasilopoulou, Aikaterini Dokou, Elissavet Georgiadou, Euthalia Karavergou, Maria Christolouka, Alexis Alexopoulos, Dimitra Kirillidi, Maria Goudesidou, Konstantina Kosma, Christalena Sofocleous, Periklis Makrythanasis   +14 more
wiley   +1 more source

Severe Clinical Phenotype in Alport Syndrome Due to 2 <i>COL4A4</i> Exon-Skipping Events. [PDF]

Kidney Med
Pleško J, Kojc N, Kert Š, Petrin S, Matjašič A, Meglič A, Zupan A.   +6 more
europepmc   +1 more source

RNA-Based Strategies for Cancer Therapy: In Silico Design and Evaluation of ASOs for Targeted Exon Skipping. [PDF]

Int J Mol Sci, 2023
Pacelli C, Rossi A, Milella M, Colombo T, Le Pera L.   +4 more
europepmc   +1 more source

Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation [PDF]

, 2000
Tri Wibawa, Yasuhiro Takeshima, Izuru Mitsuyoshi, Hiroko Wada, Agus Surono, Hajime Nakamura, Masafumi Matsuo   +6 more
openalex   +1 more source

TDP‐43 proteinopathies and neurodegeneration: insights from Caenorhabditis elegans models

The FEBS Journal, Volume 293, Issue 2, Page 348-384, January 2026.
The manuscript explores structural and functional features of TDP‐43 and its worm homologue, TDP‐1, highlighting conserved and divergent structural and functional features. Using genetically engineered C. elegans models, key pathological features of TDP‐43 proteinopathies—including aggregation, neurodegeneration, and motor deficits—are recapitulated ...
Ghulam Jeelani Pir, Joerg Buddenkotte, Majid Ali Alam, Ahmed Own, Randall J. Eck, Brian C. Kraemer, Eckhard Mandelkow, Martin Steinhoff   +7 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

Rapid flow cytometric diagnosis of XIAP deficiency

Pediatric Allergy and Immunology, Volume 37, Issue 1, January 2026.
Abstract Introduction X‐linked inhibitor of apoptosis protein (XIAP) deficiency is an inborn error of immunity caused by pathogenic variants of XIAP. It presents diverse symptoms, including recurrent hemophagocytic lymphohistiocytosis and inflammatory bowel disease. Previous reports established a functional analysis method that quantitatively evaluates
Ryosuke Wakatsuki, Madoka Nishimura, Dan Tomomasa, Shuhei Takahashi, Kyogo Suzuki, Koji Kawaguchi, Ryutaro Saura, Shota Inoue, Ichiro Takeuchi, Katsuhiro Arai, Masanaka Sugiyama, Yuta Narishige, Akira Oshima, Miyuki Tsumura, Satoshi Okada, Akihiro Hoshino, Masatoshi Takagi, Hirokazu Kanegane   +17 more
wiley   +1 more source

DG9 boosts PMO nuclear uptake and exon skipping to restore dystrophic muscle and cardiac function. [PDF]

Nat Commun
Shah MNA, Wilton-Clark H, Haque F, Powell B, Sutanto LE, Maradiya R, Zhabyeyev P, Roshmi RR, Anwar S, Aslesh T, Lim KRQ, Maruyama R, Bigot A, Young CS, Bittner S, Spencer MJ, Moulton HM, Oudit GY, Yokota T.   +18 more
europepmc   +1 more source

The Occurrence of Gene Fusions in Thyroid Lesions and the Relation With Chronic Lymphocytic Thyroiditis

Pathology International, Volume 76, Issue 1, January 2026.
We identified both known and novel gene fusions in thyroid neoplasia, including several previously reported only in nonthyroid malignancies. Gene fusion–positive tumors were significantly (p < 0.001, annotated as ***) associated with florid chronic lymphocytic thyroiditis, unlike tumors driven by somatic mutations or copy number variations.
Maaia Margo Jentus, Tom van Wezel, Dina Ruano, Marieke Snel, Abbey Schepers, Stijn Crobach, Hans Morreau   +6 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