Results 111 to 120 of about 667,667 (355)

Tumor and germline testing with next generation sequencing in epithelial ovarian cancer: a prospective paired comparison using an 18‐gene panel

Molecular Oncology, EarlyView.
Genetic testing in epithelial ovarian cancer includes both germline and tumor‐testing. This approach often duplicates resources. The current prospective study assessed the feasibility of tumor‐first multigene testing by comparing tumor tissue with germline testing of peripheral blood using an 18‐gene NGS panel in 106 patients.
Elisabeth Spenard, Cristina Mitric, Melanie Care, Tracy L. Stockley, Raymond H. Kim, Jeanna McCuaig, Blaise Clarke, Laura Ranich, Clare Sheen, Sarah E. Ferguson, Liat Hogen, Taymaa May, Marcus Q. Bernardini   +12 more
wiley   +1 more source

An anciently diverged family of RNA binding proteins maintain correct splicing of a class of ultra-long exons through cryptic splice site repression

eLife
Previously, we showed that the germ cell-specific nuclear protein RBMXL2 represses cryptic splicing patterns during meiosis and is required for male fertility (Ehrmann et al., 2019).
Chileleko Siachisumo, Sara Luzzi, Saad Aldalaqan, Gerald Hysenaj, Caroline Dalgliesh, Kathleen Cheung, Matthew R Gazzara, Ivaylo D Yonchev, Katherine James, Mahsa Kheirollahi Chadegani, Ingrid E Ehrmann, Graham R Smith, Simon J Cockell, Jennifer Munkley, Stuart A Wilson, Yoseph Barash, David J Elliott   +16 more
doaj   +1 more source

Tissue and developmental regulation of fragile X mental retardation 1 exon 12 and 15 isoforms

Neurobiology of Disease, 2009
The pre-mRNA of the fragile X mental retardation 1 gene (FMR1) is subject to exon skipping and alternative splice site selection, which can generate up to 12 isoforms. The expression and function of these variants in vivo has not yet been fully explored.
Wen Xie, Natalia Dolzhanskaya, Giuseppe LaFauci, Carl Dobkin, Robert B. Denman   +4 more
doaj   +1 more source

Genetic variation affecting exon skipping contributes to brain structural atrophy in Alzheimer's disease [PDF]

, 2018
Genetic variation in cis-regulatory elements related to splicing machinery and splicing regulatory elements (SREs) results in exon skipping and undesired protein products.
Alzheimer’s Disease Neuroimaging Initiative, Han, Seonggyun, Horgousluoglu, Emrin, Kim, Dokyoon, Kim, Dongwook, Lee, Younghee, Nho, Kwangsik, Risacher, Shannon L., Saykin, Andrew J.   +8 more
core  

Multiple breast cancer risk variants are associated with differential transcript isoform expression in tumors. [PDF]

, 2015
Genome-wide association studies have identified over 70 single-nucleotide polymorphisms (SNPs) associated with breast cancer. A subset of these SNPs are associated with quantitative expression of nearby genes, but the functional effects of the majority ...
Brenner, Steven E, Camarda, Roman, Caswell, Jennifer L, Goga, Andrei, Hu, Donglei, Huntsman, Scott, Zaitlen, Noah, Zhou, Alicia Y, Ziv, Elad   +8 more
core   +2 more sources

CDK11 inhibition induces cytoplasmic p21WAF1 splice variant by p53 stabilisation and SF3B1 inactivation

Molecular Oncology, EarlyView.
CDK11 inhibition stabilises the tumour suppressor p53 and triggers the production of an alternative p21WAF1 splice variant p21L, through the inactivation of the spliceosomal protein SF3B1. Unlike the canonical p21WAF1 protein, p21L is localised in the cytoplasm and has reduced cell cycle‐blocking activity.
Radovan Krejcir, Lukasz Arcimowicz, Lucia Martinkova, Vaclav Hrabal, Filip Zavadil Kokas, Tomas Henek, Martina Kucerikova, Ondrej Bonczek, Pavlina Zatloukalova, Lenka Hernychova, Philip J. Coates, Borivoj Vojtesek, David P. Lane   +12 more
wiley   +1 more source

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [PDF]

, 2013
Background: Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos ...
De Paepe, Anne, Goemans, Nathalie, Gyftodimou, Yolanda, Holmberg, Eva, Lopez-Gonzalez, Vanesa, Malfait, Fransiska, Mortier, Geert, Nampoothiri, Sheela, Petersen, Michael Bjorn, Symoens, Sofie   +9 more
core   +2 more sources

Characterization of WAC interactions with R2TP and TTT chaperone complexes linking glucose and glutamine availability to mTORC1 activity

FEBS Open Bio, EarlyView.
TTT and R2TP chaperone complexes are required for the assembly and activation of mTORC1. WAC directly interacts with components of TTT, R2TP, and mTORC1, and these interactions are affected by the availability of glucose and glutamine, correlating with changes in mTORC1 activity.
Sofía Cabezudo, Natalia Cuervo, Carmen García‐Martín, Andrés López‐Perrote, Clara Reglero, Adrián Maqueda‐Real, Ana González‐Corpas, Marina Serna, Diego Megías, Alejo Efeyan, Solip Park, Oscar Llorca   +11 more
wiley   +1 more source

The influence of 5-HT(2C) and MDR1 genetic polymorphisms on antipsychotic-induced weight gain in female schizophrenic patients [PDF]

, 2008
We investigated the relationships between functional genetic variants of the 5-HT(2C) receptor and multidrug-resistant protein (MDR1), coding for P-glycoprotein, and second generation antipsychotic (SDA)-induced weight gain among 108 female schizophrenic
Bilušić, Hrvoje, Božina, Nada, Hotujac, Ljubomir, Medved, Vesna, Rojnić Kuzman, Martina, Šain, Ivica   +5 more
core   +1 more source

Exons and Introns

, 2006
If genome space is finite with little, if any, DNA that is not functional under some circumstance, then potential conflicts between different forms of genomic information must be resolved by appropriate trade-offs. These trade-offs sometimes require that genes accommodate spacers, introns, and simple sequence elements.
openaire   +2 more sources