Results 41 to 50 of about 395,522 (295)

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

Intron‐oriented HTLV‐1 integration in an adult T‐cell leukemia/lymphoma cell line sustains expression of intact ift81 mRNA

FEBS Letters, EarlyView.
In the adult T‐cell leukemia/lymphoma (ATL) cell line ED, the human T‐cell leukemia virus type 1 (HTLV‐1) provirus was integrated into the intron of the ift81 gene in the antisense orientation. Despite this integration, both the intact ift81 and the viral oncogene hbz were simultaneously expressed, likely due to the functional insufficiency of viral ...
Mayuko Yagi, Yuka Hirosawa, Yusaku Sagisaka, Minami Hama, Satoshi Takeda, Jun A. Komano   +5 more
wiley   +1 more source

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

Cyclic nucleotide signaling as a drug target in retinitis pigmentosa

FEBS Letters, EarlyView.
Disruptions in cGMP and cAMP signaling can contribute to retinal dysfunction and photoreceptor loss in retinitis pigmentosa. This perspective examines the mechanisms and evaluates emerging evidence on targeting these pathways as a potential therapeutic strategy to slow or prevent retinal degeneration.
Katri Vainionpää, Ahmed B. Montaser, Henri Leinonen   +2 more
wiley   +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

Genetic variability at exon 2 of inhibin alpha locus in malabari goats of kerala [PDF]

Journal of Veterinary and Animal Sciences, 2020
The present study included 207 Malabari goats from six centers viz., University Goat and Sheep Farm, Mannuthy and 5 field centres of the ICAR-All India Coordinated Research Project on Goat Improvement (Malabari).
Haritha B. Pillai, R. Thirupathy Venkatachalapathy, T.V. Aravindakshan, Jamuna Valsalan, K. Raji   +4 more
doaj  

Aβ42 promotes the aggregation of α‐synuclein splice isoforms via heterogeneous nucleation

FEBS Letters, EarlyView.
The aggregation of amyloid‐β (Aβ) and α‐synuclein (αSyn) is associated with Alzheimer's and Parkinson's diseases. This study reveals that Aβ aggregates serve as potent nucleation sites for the aggregation of αSyn and its splice isoforms, shedding light on the intricate interplay between these two pathogenic proteins.
Alexander Röntgen, Zenon Toprakcioglu, Michele Vendruscolo   +2 more
wiley   +1 more source

Very severe spinal muscular atrophy (Type 0)

Avicenna Journal of Medicine, 2017
This case report describes a rare phenotype of very severe spinal muscular atrophy (SMA) in a newborn who presented with reduced fetal movements in utero and significant respiratory distress at birth.
Suleiman Al Dakhoul
doaj   +1 more source

Prime editing strategies to mediate exon skipping in DMD gene

Frontiers in Medicine, 2023
Duchenne muscular dystrophy is a rare and lethal hereditary disease responsible for progressive muscle wasting due to mutations in the DMD gene. We used the CRISPR-Cas9 Prime editing technology to develop different strategies to correct frameshift ...
Cedric Happi Mbakam, Cedric Happi Mbakam, Jeanne Roustant, Joel Rousseau, Joel Rousseau, Pouire Yameogo, Pouire Yameogo, Yaoyao Lu, Yaoyao Lu, Anne Bigot, Kamel Mamchaoui, Vincent Mouly, Gabriel Lamothe, Gabriel Lamothe, Jacques P. Tremblay, Jacques P. Tremblay   +15 more
doaj   +1 more source

MET variants with activating N‐lobe mutations identified in hereditary papillary renal cell carcinomas still require ligand stimulation

Molecular Oncology, EarlyView.
MET variants in the N‐lobe of the kinase domain, found in hereditary papillary renal cell carcinoma, require ligand stimulation to promote cell transformation, in contrast to other RTK variants. This suggests that HGF expression in the microenvironment is important for tumor growth in such patients. Their sensitivity to MET inhibitors opens the way for
Célia Guérin, Audrey Vinchent, Marie Fernandes, Isabelle Damour, Agathe Laratte, Rémi Tellier, Gabriella O. Estevam, Jean‐Pascal Meneboo, Céline Villenet, Clotilde Descarpentries, James S. Fraser, Martin Figeac, Alexis B. Cortot, Etienne Rouleau, David Tulasne   +14 more
wiley   +1 more source