A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II
Sign Up to like & getrecommendations! Published in 2018 at "FEBS Open Bio"
DOI: 10.1002/2211-5463.12389
Abstract: Pseudohypoaldosteronism type II (PHAII) is a rare renal tubular disease that is inherited in an autosomal dominant manner. Mutations in four genes (WNK1, WNK4, CUL3, and KLHL3) have been identified to be responsible for this… read more here.
Keywords: cul3; exon; pseudohypoaldosteronism type; mutation ... See more keywords
Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1603
Abstract: BACKGROUND Mutations in ciliary genes cause a spectrum of both overlapping and distinct clinical syndromes (ciliopathies). CEP120 and CC2D2A are paradigmatic examples for this genetic heterogeneity and pleiotropy as mutations in both cause Joubert syndrome… read more here.
Keywords: tissue specific; genetic variants; exon; cep120 cc2d2a ... See more keywords
Quantitative Evaluation of Exon Skipping in Immortalized Muscle Cells In Vitro.
Sign Up to like & getrecommendations! Published in 2018 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-8651-4_7
Abstract: Exon skipping through the use of antisense oligonucleotides (AOs) is currently one of the most promising approaches for treating Duchenne muscular dystrophy (DMD). While we now have a number of AO drug candidates in clinical… read more here.
Keywords: dmd; muscle cells; exon; exon skipping ... See more keywords
Evolutionary dynamics of an expressed MHC class II&bgr; locus in the Ranidae (Anura) uncovered by genome walking and high‐throughput amplicon sequencing
Sign Up to like & getrecommendations! Published in 2017 at "Developmental and Comparative Immunology"
DOI: 10.1016/j.dci.2017.05.022
Abstract: Abstract The Major Histocompatibility Complex (MHC) is a genomic region encoding immune loci that are important and frequently used markers in studies of adaptive genetic variation and disease resistance. Given the primary role of infectious… read more here.
Keywords: locus; exon; class bgr; mhc class ... See more keywords
A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104182
Abstract: Disruption of the initiation of DNA replication is significantly associated with Meier-Gorlin syndrome (MGORS), an autosomal recessive condition of reduced growth, microtia and patellar a/hypoplasia. Biallelic mutations in CDC45, a member of the pre-initiation complex… read more here.
Keywords: craniosynostosis; cdc45; exon; meier gorlin ... See more keywords
A preferential switch between placental GR exon 1 promoter variants in the presence of maternal asthma or inflammation upregulates GRα D isoforms.
Sign Up to like & getrecommendations! Published in 2021 at "Placenta"
DOI: 10.1016/j.placenta.2021.03.013
Abstract: INTRODUCTION The human placenta expresses multiple glucocorticoid receptor (GR) isoforms that may be partially regulated by the untranslated 5' exon 1 GR gene promoter region which consists of 9 different promoters and 13 splice variants. The… read more here.
Keywords: maternal asthma; presence maternal; exon; expression ... See more keywords
The Evolutionarily Conserved Cassette Exon 7b Drives ERG's Oncogenic Properties
Sign Up to like & getrecommendations! Published in 2019 at "Translational Oncology"
DOI: 10.1016/j.tranon.2018.09.001
Abstract: The oncogene ERG encodes an ETS family transcription factor and is implicated in blood, vascular, and bone development and in prostate, blood, and bone cancer. The ERG gene is alternatively spliced; of particular interest is… read more here.
Keywords: evolutionarily conserved; erg oncogenic; exon; cassette exon ... See more keywords
Molecular heterogeneity and measurable residual disease of rare NPM1 mutations in acute myeloid leukemia: a nationwide experience from the GBMHM study group
Sign Up to like & getrecommendations! Published in 2022 at "Leukemia"
DOI: 10.1038/s41375-022-01534-z
Abstract: TO THE EDITOR Nucleophosmin (NPM1)-mutated acute myeloid leukemia (AML) is a recognized entity related to distinctive biological, clinical, and prognostic features. Nearly all NPM1 variants are frame-shift mutations located in exon 11, inducing the insertion… read more here.
Keywords: study; acute myeloid; npm1 mutations; myeloid leukemia ... See more keywords
A drug-repositioning screen using splicing-sensitive fluorescent reporters identifies novel modulators of VEGF-A splicing with anti-angiogenic properties
Sign Up to like & getrecommendations! Published in 2021 at "Oncogenesis"
DOI: 10.1038/s41389-021-00323-0
Abstract: Alternative splicing of the vascular endothelial growth factor A (VEGF-A) terminal exon generates two protein families with differing functions. Pro-angiogenic VEGF-Axxxa isoforms are produced via selection of the proximal 3′ splice site of the terminal… read more here.
Keywords: splicing sensitive; fluorescent; terminal exon; exon ... See more keywords
Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-019-0345-1
Abstract: Wilson disease (WD) is an autosomal recessive disease of copper excess due to pathogenic variants in the ATP7B gene coding for a copper-transporting ATPase. We present a 5-year-old girl with the homozygous frame shift variant… read more here.
Keywords: atp7b; copper; exon; copper export ... See more keywords
Radiological and Clinical Features associated with Epidermal Growth Factor Receptor Mutation Status of Exon 19 and 21 in Lung Adenocarcinoma
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-00511-2
Abstract: The exon 19 and 21 in Epidermal Growth Factor Receptor (EGFR) mutation are the most common subtype of lung adenocarcinoma, and the strongest predictive biomarker for progression-free survival and tumor response. Although some studies have… read more here.
Keywords: lung adenocarcinoma; egfr mutation; growth factor; exon ... See more keywords