Correlation of KIT and PDGFRA mutation status with clinicopathologic features in primary and recurrent or metastatic gastrointestinal stromal tumors [PDF]
Objective: To investigate the correlation of KIT and PDGFRA mutation status with immunohistochemistry (IHC) and clinicopathological features in the primary, recurren tor metastatic gastrointestinal stromal tumors (GIST).
GU Yijin, LI Anqi, DONG Lei, XU Haimin, SHEN Xia, XIE Jialing, YUAN Fei, WANG Chaofu
doaj +1 more source
Using a sensitive assay for RNA expression, we identified several abnormally spliced transcripts in which exons from a candidate tumor suppressor gene (DCC) were scrambled during the splicing process in vivo. Cloning and sequencing of PCR-amplified segments of the abnormally spliced transcripts showed that exons were joined accurately at consensus ...
J M, Nigro+7 more
openaire +2 more sources
Complex exon-intron marking by histone modifications is not determined solely by nucleosome distribution [PDF]
It has recently been shown that nucleosome distribution, histone modifications and RNA polymerase II (Pol II) occupancy show preferential association with exons (“exon-intron marking”), linking chromatin structure and function to co-transcriptional ...
A Barski+66 more
core +4 more sources
Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay
ObjectiveArgininosuccinate lyase (ASL) gene mutations account for argininosuccinic aciduria (ASA). This study aimed to design a minigene construct of ASL gene in order to investigate the impact of variants on splicing.MethodsThe peripheral blood samples ...
Yanyun Wang+5 more
doaj +1 more source
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy [PDF]
Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
A Buj-Bello+58 more
core +11 more sources
New Frontiers in Scientific Drilling of the Indian Ocean [PDF]
No abstract available.
Mike Coffin+5 more
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The CUGBP2 splicing factor regulates an ensemble of branchpoints from perimeter binding sites with implications for autoregulation [PDF]
Alternative pre-mRNA splicing adjusts the transcriptional output of the genome by generating related mRNAs from a single primary transcript, thereby expanding protein diversity.
Dembowski, JA, Grabowski, PJ
core +5 more sources
Genetic variability at exon 2 of inhibin alpha locus in malabari goats of kerala [PDF]
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+4 more
doaj
Identification of an osteocalcin isoform in fish with a large acidic prodomain [PDF]
Osteocalcin is a small, secreted bone protein whose gene consists of four exons. In the course of analyzing the structure of fish osteocalcin genes, we recently found that the spotted green pufferfish has two possible exon 2 structures, one of 15 bp and ...
Amores+30 more
core +1 more source
Recent advances in synthetic drug manufacturing have introduced a new dynamic to the European regulatory system, with chemically synthesized polypeptide products using biological originator products as their reference medicine.
Kevin Klein+2 more
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