Results 61 to 70 of about 667,667 (355)

New Frontiers in Scientific Drilling of the Indian Ocean [PDF]

Scientific Drilling, 2012
No abstract available.
Mike Coffin, S. Rajan, Dhananjai Pandey, Stephen J. Gallagher, Neville Exon, Ken Takai   +5 more
doaj   +2 more sources

Unexpected Compensatory Increase in Shank3 Transcripts in Shank3 Knock-Out Mice Having Partial Deletions of Exons

Frontiers in Molecular Neuroscience, 2019
Genetic variants of the SH3 and multiple ankyrin repeat domains 3 (SHANK3) gene, which encodes excitatory postsynaptic core scaffolds cause numerous brain disorders.
Chunmei Jin, Chunmei Jin, Hyae Rim Kang, Hyae Rim Kang, Hyojin Kang, Yinhua Zhang, Yinhua Zhang, Yeunkum Lee, Yeunkum Lee, Yoonhee Kim, Yoonhee Kim, Kihoon Han, Kihoon Han   +12 more
doaj   +1 more source

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

Position of Premature Termination Codons Determines Susceptibility of hERG Mutations to Nonsense-Mediated mRNA Decay in Long QT Syndrome

, 2014
The degradation of human ether-a-go-go-related gene (hERG, KCNH2) transcripts containing premature termination codon (PTC)mutations by nonsense-mediatedmRNA decay (NMD) is an importantmechanismof long QT syndrome type 2 (LQT2).
Gong, Qiuming, Stump, Matthew R., Zhou, Zhengfeng   +2 more
core   +1 more source

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region [PDF]

, 2010
Mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a heritable disease that affects elastic fibers. Thus far, >200 mutations have been characterized by various PCR-based techniques (primarily direct sequencing), identifying up to 90% of PXE-causing
Chassaing, N, Costrop, Laura, Coucke, Paul, De Paepe, Anne, Guerra, D, Le Saux, Olivier, Martin, L, Pasquali-Ronchetti, I, Van Laer, Lut, Vanakker, Olivier   +9 more
core   +2 more sources

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

Comprehensive omics‐based classification system in adult patients with B‐cell acute lymphoblastic leukemia

Molecular Oncology, EarlyView.
The COMBAT classification system, developed through multi‐omics integration, stratifies adult patients with B‐cell acute lymphoblastic leukemia(B‐ALL) into three molecular subtypes with distinct surface antigen patterns, immune landscape, methylation patterns, biological pathways and prognosis.
Yang Song, Ting Liu, Qishan Hao, Qiuyun Fang, Xiaoyuan Gong, Yan Li, Zheng Tian, Hui Wei, Min Wang, Jianxiang Wang, Tao Cheng, Yingchang Mi   +11 more
wiley   +1 more source

De novo prediction of PTBP1 binding and splicing targets reveals unexpected features of its RNA recognition and function. [PDF]

, 2014
The splicing regulator Polypyrimidine Tract Binding Protein (PTBP1) has four RNA binding domains that each binds a short pyrimidine element, allowing recognition of diverse pyrimidine-rich sequences.
Black, Douglas L, Fu, Xiang-Dong, Han, Areum, Linares, Anthony J, Stoilov, Peter, Zhou, Yu   +5 more
core   +11 more sources

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  

Survival Analysis of Lung Adenocarcinoma Patients with Exon 19 Del and 21 L858R Mutations Receiving EGFR-TKI Treatment

Jurnal Respirasi, 2023
Introduction: Patients with adenocarcinoma of the lung that have a common EGFR mutation, the Exon 19 Del mutation, survive better than those with the Exon 21 L858R mutation.
Stephen Johan Prasetyo, Noni Novisari Soeroso, Setia Putra Tarigan, Erna Mutiara, Novia Nurul Faizah   +4 more
doaj   +1 more source