Results 61 to 70 of about 83,578 (286)

MET and NF2 alterations confer primary and early resistance to first‐line alectinib treatment in ALK‐positive non‐small‐cell lung cancer

Molecular Oncology, EarlyView.
Alectinib resistance in ALK+ NSCLC depends on treatment sequence and EML4‐ALK variants. Variant 1 exhibited off‐target resistance after first‐line treatment, while variant 3 and later lines favored on‐target mutations. Early resistance involved off‐target alterations, like MET and NF2, while on‐target mutations emerged with prolonged therapy.
Jie Hu, Ning Ding, Xiaobo Xu, Yedan Chen, Yong Zhang, Jingwen Liu, Jiebai Zhou, Hairong Bao, Donghui Zhang, Yijun Song, Yang Shao, Yuanlin Song   +11 more
wiley   +1 more source

Novel GLA Mutation Promotes Intron Inclusion Leading to Fabry Disease

Frontiers in Genetics, 2019
Fabry disease (FD) is a rare and underdiagnosed X-linked disorder resulting from the deficient activity of the lysosomal hydrolase α-galactosidase A, which leads to storage of complex glycosphingolipids inside of lysosomes in critical organs and tissues,
Patrícia Varela, Myrtes Martins Caldas, João Bosco Pesquero   +2 more
doaj   +1 more source

Landscape of BRAF transcript variants in human cancer

Molecular Oncology, EarlyView.
We investigate the annotation of BRAF variants, focusing on protein‐coding BRAF‐220 (formerly BRAF‐reference) and BRAF‐204 (BRAF‐X1). The IsoWorm pipeline allows us to quantify these variants in human cancer, starting from RNA‐sequencing data. BRAF‐204 is more abundant than BRAF‐220 and impacts patient survival.
Maurizio S. Podda, Danilo Tatoni, Gianluca Mattei, Alberto Magi, Romina D'Aurizio, Laura Poliseno   +5 more
wiley   +1 more source

The strength of the HIV-1 3' splice sites affects Rev function

Retrovirology, 2006
Background The HIV-1 Rev protein is a key component in the early to late switch in HIV-1 splicing from early intronless (e.g. tat, rev) to late intron-containing Rev-dependent (e.g. gag, vif, env) transcripts.
Kjems Jørgen, Hauber Ilona, Otte Marianne, Kammler Susanne, Hauber Joachim, Schaal Heiner   +5 more
doaj   +1 more source

Cytomegalovirus infection is common in prostate cancer and antiviral therapies inhibit progression in disease models

Molecular Oncology, EarlyView.
Human cytomegalovirus infection is common in normal prostate epithelium, prostate tumor tissue, and prostate cancer cell lines. CMV promotes cell survival, proliferation, and androgen receptor signaling. Anti‐CMV pharmaceutical compounds in clinical use inhibited cell expansion in prostate cancer models in vitro and in vivo, motivating investigation ...
Johanna Classon, Moa Stenudd, Margherita Zamboni, Kanar Alkass, Carl‐Johan Eriksson, Lars Pedersen, Alrik Schörling, Anna Thoss, Anders Bergh, Pernilla Wikström, Hans‐Olov Adami, Henrik Toft Sørensen, Henrik Druid, Jonas Frisén   +13 more
wiley   +1 more source

Rare occurrence of cryptic 5’ splice sites by downstream 3’ splice site/exon boundary mutations in a heavy-ion-induced egy1-4 allele of Arabidopsis thaliana

Frontiers in Plant Science
Pre-mRNA splicing is a fundamental process in eukaryotic gene expression, and the mechanism of intron definition, involving the recognition of the canonical GU (5’-splice site) and AG (3’-splice site) dinucleotides by splicing factors, has been ...
Alvin Sanjaya, Alvin Sanjaya, Ryo Nishijima, Yuki Fujii, Makoto Asano, Kotaro Ishii, Yusuke Kazama, Yusuke Kazama, Tomoko Abe, Makoto T. Fujiwara, Makoto T. Fujiwara   +10 more
doaj   +1 more source

Unusual splice site mutations disrupt FANCA exon 8 definition

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2014
The pathological role of mutations that affect not conserved splicing regulatory sequences can be difficult to determine. In a patient with Fanconi anemia, we identified two unpredictable splicing mutations that act on either sides of FANCA exon 8.
Mattioli C, Pianigiani G, DE ROCCO, DANIELA, Bianco AM, Cappelli E, SAVOIA, ANNA, Pagani F.   +6 more
openaire   +5 more sources

A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome [PDF]

Journal of Molecular and Cellular Cardiology, 2008
Mutations in the human ether-a-go-go-related gene (hERG) cause type 2 long QT syndrome. In this study, we investigated the pathogenic mechanism of the hERG splice site mutation 2398+1G>C and the genotype-phenotype relationship of mutation carriers in three unrelated kindreds with long QT syndrome. The effect of 2398+1G>C on mRNA splicing was studied by
G. Michael Vincent, Michael J. Ackerman, David J. Tester, Qiuming Gong, M. Jones, Jeffrey C. Robinson, Zhengfeng Zhou, Arthur J. Moss, Li Zhang   +8 more
openaire   +3 more sources

Raphin‐1 mediates the survival and sensitivity to radiation of pediatric‐type diffuse high‐grade glioma via phosphorylated eukaryotic initiation factor 2α‐dependent and ‐independent processes

Molecular Oncology, EarlyView.
Raphin‐1 reduces the survival of PED‐DHGG cells and enhances their radiation sensitivity through both PeIF2α‐dependent and PeIF2α‐independent mechanisms. Raphin‐1 sustains elevated levels of PeIF2α, contributing to its PeIF2α‐dependent effects. Additionally, raphin‐1 interacts with CReP to mediate a separate radiosensitizing pathway that operates ...
Karin Eytan, Moshe Leitner, Amos Toren, Shoshana Paglin, Michal Yalon   +4 more
wiley   +1 more source

A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

BMC Medical Genetics, 2011
Background Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis.
Arístegui Javier, Garrote Elisa, Rodríguez Jose A, Sarasola Esther, García-Barcina Maria J   +4 more
doaj   +1 more source