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Expression and splice variant analysis of the zebrafish tcf4 transcription factor
(2002)
Wnt signalling has been implicated in antero-posterior patterning of the vertebrate embryonic body axis and in a number of other developmental processes. One of the downstream effectors of Wnt signalling is the β-catenin ...
Expression of erythroblastic leukemia viral oncogene homolog (erbBS) mRNAs and possible splice variants in 3T3-L1 preadipocytes
(Spandidos Publ Ltd, 2011-09)
Previously, we studied the erythroblastic leukemia viral oncogene homolog (erbB) family of tyrosine kinase growth factor receptors in terms of protein expression, modulation and activation in the 3T3-L1 cell line. In the ...
Alternative splicing enriched cDNA libraries identify breast cancer-associated transcripts
(BIOMED CENTRAL LTD, 2010)
Background: Alternative splicing (AS) is a central mechanism in the generation of genomic complexity and is a major contributor to transcriptome and proteome diversity. Alterations of the splicing process can lead to ...
ORESTES are enriched in rare exon usage variants affecting the encoded proteins
(Elsevier France-editions Scientifiques Medicales ElsevierParisFrança, 2003)
Evaluation of RET polymorphisms in a six-generation family with G533C RET mutation: specific RET variants may modulate age at onset and clinical presentation
(WILEY-BLACKWELL PUBLISHING, INC, 2009)
P>Context We previously described a six-generation family with G533C RET mutation and medullary thyroid carcinoma, in the largest family reported do date. Of particular interest, phenotype variability regarding the age of ...
A catecholamine transporter from the human parasite Schistosoma mansoni with low affinity for psychostimulants
(ELSEVIER SCIENCE BV, 2011)
The trematode Schistosoma mansoni is the primary cause of schistosomiasis, a devastating neglected tropical disease that affects 200 million individuals. Identifying novel therapeutic targets for the treatment of schistosomiasis ...
Small genetic variation affecting mRNA isoforms associated with marbling and meat color in beef cattle
(2022-01-01)
The aim of this study was to identify mRNA isoforms and small genetic variants that may be affecting marbling and beef color in Nellore cattle. Longissimus thoracis muscle samples from 20 bulls with different phenotypes ...
Cardiac CaMKIIδ splice variants exhibit target signaling specificity and confer sex-selective arrhythmogenic actions in the ischemic-reperfused heart
(Elsevier Ireland, 2015-02)
BACKGROUND: Ischemia-related arrhythmic incidence is generally lower in females (vs males), though risk is selectively increased in women with underlying cardiopathology. Ca(2+)/calmodulin dependent kinase II (CaMKII) has ...
A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism
(BIOSCIENTIFICA LTD, 2010)
Context: Loss-of-function mutations of the kisspeptin-1 receptor gene, KISS1R, have been identified in patients with normosmic isolated hypogonadotropic hypogonadism (nIHH). Objective: To investigate KISS1R defects in ...