Results 231 to 240 of about 51,494 (318)

De novo UNC13B mutation identified in a bipolar disorder patient increases a rare exon‐skipping variant

, 2018
Takumi Nakamura, Kotori Jimbo, Kazuo Nakajima, Takashi Tsuboi, Tadafumi Kato   +4 more
openalex   +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

MYH11 variants in thoracic aortic aneurysm pathophysiology: From bench to bedside

European Journal of Clinical Investigation, Volume 56, Issue 4, April 2026.
Thoracic aortic aneurysms and dissections (TAAD) are often asymptomatic until rupture or dissection, which are associated with high mortality. Around 20% of cases of TAAD show familial segregation; some of these are linked to pathogenic variants in vascular smooth muscle cell contractile genes, like MYH11.
Aria Atash, Barend M. E. Mees, Maarten J. Cramer, Annette F. Baas, Leon J. Schurgers, Pieter A. Doevendans, Francesca Stillitano   +6 more
wiley   +1 more source

Targeting a pathogenic cryptic exon that drives HLRCC to induce exon skipping. [PDF]

Mol Ther Nucleic Acids
Maligireddy SS, Mandler MD, Lunger JC, Yuen M, Kulkarni S, Perez AR, Fitzsimmons CM, Crooks DR, Chari R, Linehan WM, Batista PJ.   +10 more
europepmc   +1 more source

Detection of exon skipping events in BRCA1 RNA using MLPA kit P002 [PDF]

, 2012
Rita D. Brandão, Demis Tserpelis, E. Gómez, Marinus J. Blok   +3 more
openalex   +1 more source

Epidemiology and Genetics of Rheumatic Diseases Suggest a Constant Rate of DNA Damage as Underlying Cause

Immunology, Volume 177, Issue 4, Page 736-748, April 2026.
A constant rate of DNA damage that is not perfectly repaired will cause a constant rate of DNA mutations. The chance of mutation will increase if DNA is prone to damage, such as occurs in somatic hypermutation (SHM) hotspots and GC‐rich DNA. Thus, if one mutation‐prone DNA site drives disease, the age of onset of disease and degree of penetrance should
Piet C. de Groen
wiley   +1 more source

Additional file 2: of Genome editing through large insertion leads to the skipping of targeted exon

, 2015
Borhan Uddin, Nan‐Peng Chen, Marko Panić, Elmar Schiebel   +3 more
openalex   +1 more source

Advances in CRISPR Base Editing: From Molecular Evolution to Therapeutic Applications in Genomic Medicine

Journal of Cellular and Molecular Medicine, Volume 30, Issue 8, April 2026.
ABSTRACT CRISPR‐Cas9 systems revolutionized gene editing, but inherent drawbacks, namely DNA double‐strand breaks (DSBs) and the difficulty of achieving precise repairs (due to low HDR efficiency), led researchers to invent new, more accurate gene editing tools.
Melike Aliciaslan, Ezgi Erbasan, Fulya Erendor, Salih Sanlioglu   +3 more
wiley   +1 more source

Coexistence of a primary ALK-positive and MET14 exon skipping mutation double-fusion in one patient with NSCLC and response to crizotinib: A case report and literature review. [PDF]

Medicine (Baltimore)
Xu K, Wang M, Zhao J, Xu X, Song M.
europepmc   +1 more source

Myofibre Density Reveals a Critical Threshold Around Age 6 in Steroid‐Naïve Duchenne Muscular Dystrophy: A Retrospective Observational Study

Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.
We analysed archival muscle biopsies of steroid‐naïve patients with Duchenne muscular dystrophy (DMD), proposing a novel, simple metric: myofibre density (MFD). MFD sharply declines until age 6, identifying a critical threshold around this age. MFD provides a sensitive, reproducible biomarker for early disease progression, highlighting a potential ...
Tetsuhiro Yamakado, Yuka Ishikawa, Koki Ise, Lei Wang, Yoshitaka Oda, Masumi Tsuda, Taichi Kimura, Masayoshi Nagao, Manabu Ito, Shinya Tanaka, Zen‐ichi Tanei   +10 more
wiley   +1 more source