Results 151 to 160 of about 30,223 (276)

A De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
This study reports a rare case of bone marrow failure syndrome type 1 (BMFS1) caused by a novel de novo splicing mutation (c.1502+1G>A) in the SRP72 gene. The 6‐year‐old patient presented with aplastic anemia and pancytopenia. Genetic analysis identified the mutation, which was absent in both parents, confirming its de novo origin.
Wang Xiangwen, Zhang Duo, Hao Wenjing, Hou Hui   +3 more
wiley   +1 more source

Branchpoints as potential targets of exon-skipping therapies for genetic disorders. [PDF]

Mol Ther Nucleic Acids, 2023
Ohara H, Hosokawa M, Awaya T, Hagiwara A, Kurosawa R, Sako Y, Ogawa M, Ogasawara M, Noguchi S, Goto Y, Takahashi R, Nishino I, Hagiwara M.   +12 more
europepmc   +1 more source

Widespread Prevalence of CD19 Exon 5-6 Skipping In Indian Pediatric B-cell Acute Lymphoblastic Leukemia Patients [PDF]

Devesh Srivastava, Anurag Gupta, Nishant Verma, Ashish Misra   +3 more
openalex   +1 more source

Exploring the Significance of the Exon 4-Skipping Isoform of the ZNF217 Oncogene in Breast Cancer

, 2021
Aurélie Bellanger, Diep T. Le, Julie A. Vendrell, Anne Wierinckx, Lőrinc Sándor Pongor, Jérôme Solassol, Joël Lachuer, Philippe Clézardin, Balázs Győrffy, Pascale A. Cohen   +9 more
openalex   +1 more source

A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
Minigene splicing assays elucidated the pathogenicity of a novel intronic c.3717+5G>A mutation in the PCDH15 gene, which was identified in a family affected by Usher syndrome type 1F. The results demonstrated that the c.3717+5G>A mutation can lead to exon 27 skipping and retention of 51 bp at the 5′ end of intron 27, resulting in truncated or abnormal ...
Qifan Ma, Chenyang Xu, Xueqin Xu, Yanbao Xiang   +3 more
wiley   +1 more source

Exon-skipping due to bi-allelic splice site mutations in the neurodevelopmental disease gene LNPK. [PDF]

HGG Adv
Doss RM, Wirth SA, Pitsch JW, Dias CM, Gropman AL, Breuss MW.   +5 more
europepmc   +1 more source

Prime editing strategies to mediate exon skipping in DMD gene. [PDF]

Front Med (Lausanne), 2023
Happi Mbakam C, Roustant J, Rousseau J, Yameogo P, Lu Y, Bigot A, Mamchaoui K, Mouly V, Lamothe G, Tremblay JP.   +9 more
europepmc   +1 more source

Exon skipping peptide-pmos for correction of dystrophin in mouse models of duchenne muscular dystrophy

, 2014
Corinne Betts, Betts, Corinne
openalex   +1 more source

β‐Spectrin Campinas: a novel shortened β‐chain variant associated with skipping of exon 30 and hereditary elliptocytosis [PDF]

, 1997
Daniela S. Daniela Sanchez Bassères, Patrícia Pranke, Tereza S. I. Sales, Fernando Ferreira Costa, Sara T.O. Saad   +4 more
openalex   +1 more source

Cycling Through Uncertainty: The Psychological Experiences of Individuals With Lung Cancer Receiving Immunotherapy And/Or Targeted Therapy

Psycho-Oncology, Volume 35, Issue 1, January 2026.
ABSTRACT Background The recent developments in immunotherapy and targeted therapy drugs offer a new hope for prolonging overall survival and improving quality of life in individuals with advanced lung cancer. However, treatment response to these drugs is variable and unpredictable and early research indicates that these individuals are living with ...
Alanna K. Chu, Emma Kearns, Celeste Holy, Paul Wheatley‐Price, Rinat Nissim, Tim Aubry, Sophie Lebel   +6 more
wiley   +1 more source