Results 71 to 80 of about 645,043 (338)

A putative exonic splicing enhancer in exon 7 of thePDHA1 gene affects splicing of adjacent exons [PDF]

Human Mutation, 2008
A nonsense mutation (c.729C>A, Y243X) in exon 7 of the PDHA1 gene in a patient with pyruvate dehydrogenase deficiency results in aberrant splicing of the primary transcript with production of stable mRNAs which lack either both exons 6 and 7 or exon 7 alone.
Ridout, C, Keighley, P, Krywawych, S, Brown, R, Brown, G   +4 more
openaire   +3 more sources

The thioredoxin‐like and one glutaredoxin domain are required to rescue the iron‐starvation phenotype of HeLa GLRX3 knock out cells

FEBS Letters, EarlyView.
Glutaredoxin (Grx) 3 proteins contain a thioredoxin domain and one to three class II Grx domains. These proteins play a crucial role in iron homeostasis in eukaryotic cells. In human Grx3, at least one of the two Grx domains, together with the thioredoxin domain, is essential for its function in iron metabolism.
Laura Magdalena Jordt, Manuela Gellert, Finja Zelms, Sander Bekeschus, Christopher Horst Lillig   +4 more
wiley   +1 more source

Mutations in the PKM2 exon-10 region are associated with reduced allostery and increased nuclear translocation. [PDF]

, 2019
PKM2 is a key metabolic enzyme central to glucose metabolism and energy expenditure. Multiple stimuli regulate PKM2's activity through allosteric modulation and post-translational modifications.
Chen, Tsan-Jan, Cheng, Hsin-Hung, Hsu, Sheng-Chieh, Kung, Hsing-Jien, Liu, Jai-Shin, Liu, Ying-Yuan, Lu, Chien-Hung, Wang, Hung-Jung, Wang, Wen-Ching, Wu, Jing-Wen, Wu, Meng-Chen, Wu, Yu-Fang   +11 more
core   +3 more sources

Patients with exon 19 deletion were associated with longer progression-free survival compared to those with L858R mutation after first-line EGFR-TKIs for advanced non-small cell lung cancer: a meta-analysis. [PDF]

PLoS ONE, 2014
It has been extensively proved that the efficacy of epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs) is superior to that of cytotoxic chemotherapy in advanced non-small cell lung cancer (NSCLC) patients harboring sensitive EGFR ...
Yaxiong Zhang, Jin Sheng, Shiyang Kang, Wenfeng Fang, Yue Yan, Zhihuang Hu, Shaodong Hong, Xuan Wu, Tao Qin, Wenhua Liang, Li Zhang   +10 more
doaj   +1 more source

Obesity alters the fitness of peritumoral adipose tissue, exacerbating tumor invasiveness in renal cancer through the induction of ADAM12 and CYP1B1

Molecular Oncology, EarlyView.
Tumor microenvironment drives cancer formation and progression. We analyzed the role of human cancer‐associated adipocytes from patients with renal cell carcinoma (RCC) stratified as lean, overweight, or obese. RNA‐seq demonstrated that, among the most altered genes involved in the tumor–stroma crosstalk, are ADAM12 and CYP1B1, which were proven to be ...
Sepehr Torabinejad, Caterina Miro, Annarita Nappi, Francesco Del Giudice, Annunziata Gaetana Cicatiello, Serena Sagliocchi, Lucia Acampora, Federica Restolfer, Melania Murolo, Emery Di Cicco, Federico Capone, Ciro Imbimbo, Monica Dentice, Felice Crocetto   +13 more
wiley   +1 more source

Directional Next-Generation RNA Sequencing and Examination of Premature Termination Codon Mutations in Endoglin/Hereditary Haemorrhagic Telangiectasia [PDF]

, 2012
Hereditary haemorrhagic telangiectasia (HHT) is a disease characterised by abnormal vascular structures, and most commonly caused by mutations in ENG, ACVRL1 or SMAD4 encoding endothelial cell-expressed proteins involved in TGF-β superfamily signalling ...
Begbie, ME, Game, L, Giess, A, Govani, FS, Jones, MD, Mollet, IG, Shovlin, CL   +6 more
core   +1 more source

Functional Analysis Of The Mutations Of E Cadherin Exon 4-5, Exon 7, Exon 8, Exon 9 And Exon 16 In Sporadic Infiltrating Ductal Carcinoma Of The Breast [PDF]

IOSR Journal of Dental and Medical Sciences, 2014
E-cadherin mutations are a major step in the metastatic progression. Mutated cadherins contributes to different aspects of cancer progression like drug resistance, angiogenesis, cancer cell invasion and metastasis. Thus cadherins can be regarded as a valuable diagnostic and prognostic indicators as well as potential therapeutic targets of cancer ...
Revathi Kasthuri, Malathi Veeramani
openaire   +1 more source

Detection rate for ESR1 mutations is higher in circulating‐tumor‐cell‐derived genomic DNA than in paired plasma cell‐free DNA samples as revealed by ddPCR

Molecular Oncology, EarlyView.
Analysis of ESR1 mutations in plasma cell‐free DNA (cfDNA) is highly important for the selection of treatment in patients with breast cancer. Using multiplex‐ddPCR and identical blood draws, we investigated whether circulating tumor cells (CTCs) and cfDNA provide similar or complementary information for ESR1 mutations.
Stavroula Smilkou, Aliki Ntzifa, Victoria Tserpeli, Ioanna Balgkouranidou, Alkistis Papatheodoridi, Evangelia Razis, Helena Linardou, Christos Papadimitriou, Amanda Psyrri, Flora Zagouri, Stylianos Kakolyris, Evi Lianidou   +11 more
wiley   +1 more source

Integration of single‐cell and bulk RNA‐sequencing data reveals the prognostic potential of epithelial gene markers for prostate cancer

Molecular Oncology, EarlyView.
Prostate cancer is a leading malignancy with significant clinical heterogeneity in men. An 11‐gene signature derived from dysregulated epithelial cell markers effectively predicted biochemical recurrence‐free survival in patients who underwent radical surgery or radiotherapy.
Zhuofan Mou, Lorna W. Harries
wiley   +1 more source

Kit receptor tyrosine kinase dysregulations in feline splenic mast cell tumours [PDF]

, 2017
This study investigated Ki t receptor dysregulations (cytoplasmic immunohistochemical expression and/or c-KIT mutations) in cats a\ufb00ected with splenic mast cell tumours. Twenty-two cats were included.
Amagai, Arock, Carpenter, Columbo, Dank, Frost, Garner, Giantin, Hadzijusufovic, Hahn, Henry, Isotani, Isotani, Lanternier, Letard, Liska, Litster, London, London, Mallett, Marconato, Meininger, Rodriguez-Cariño, Sabattini, Sabattini, Sabattini, Spangler, Takanosu, Takeuchi, Webster, Webster, Webster, Zemke   +32 more
core   +1 more source