Identification of a STIM1 Splicing Variant that Promotes Glioblastoma Growth.
Sign Up to like & getrecommendations! Published in 2022 at "Advanced science"
DOI: 10.1002/advs.202103940
Abstract: Deregulated store-operated calcium entry (SOCE) mediated by aberrant STIM1-ORAI1 signaling is closely implicated in cancer initiation and progression. Here the authors report the identification of an alternatively spliced variant of STIM1, designated STIM1β, that harbors… read more here.
Keywords: stim1 splicing; identification stim1; growth; stim1 ... See more keywords
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24426
Abstract: We report the clinical and genetic features of a Caucasian girl who presented a severe neurodevelopmental disorder with drug‐resistant epilepsy, hypotonia, severe gastro‐esophageal reflux and brain magnetic resonance imaging anomalies. WES uncovered a novel variant… read more here.
Keywords: splicing variant; first splicing; hecw2 autosomal; variant hecw2 ... See more keywords
Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman‐like syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.511
Abstract: Patients affected by Angelman syndrome (AS) present severe intellectual disability, lack of speech, ataxia, seizures, abnormal electroencephalography (EEG), and a characteristic behavioral phenotype. Around 10% of patients with a clinical diagnosis of AS (AS‐like) do… read more here.
Keywords: novo splicing; variant coffin; splicing variant; coffin siris ... See more keywords
An alternative splicing variant of mineralocorticoid receptor discovered in preeclampsia tissues and its effect on endothelial dysfunction
Sign Up to like & getrecommendations! Published in 2019 at "Science China Life Sciences"
DOI: 10.1007/s11427-018-9535-9
Abstract: The pathophysiology of preeclampsia (PE) remains unclear. PE spiral artery remodeling dysfunction and PE offspring cardiovascular future development has been a worldwide concern. We collected placental and umbilical artery samples from nor-motensive and PE pregnancies.… read more here.
Keywords: artery; dysfunction; splicing variant; mineralocorticoid receptor ... See more keywords
Diverse cardiac phenotypes among different carriers of the same MYH7 splicing variant allele (c.732+1G>A) from a family
Sign Up to like & getrecommendations! Published in 2022 at "BMC Medical Genomics"
DOI: 10.1186/s12920-022-01186-z
Abstract: Background Left ventricular non-compaction cardiomyopathy (LVNC) is a rare congenital heart defect. Gene defections have been found in patients with LVNC and their family members; and MYH7 is the most frequent gene associated with LVNC.… read more here.
Keywords: variant allele; myh7 splicing; cardiac phenotypes; family ... See more keywords
Targeted Sequencing and RNA Assay Reveal a Noncanonical JAG1 Splicing Variant Causing Alagille Syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2019.01363
Abstract: Alagille syndrome (ALGS), as known as congenital arteriohepatic dysplasia, is a rare autosomal dominant multi-systemic disorder. Mutations in JAG1 or more rarely NOTCH2 have been reported as the cause of ALGS. In this study, a… read more here.
Keywords: jag1 splicing; sequencing rna; rna assay; alagille syndrome ... See more keywords
Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2023.1059322
Abstract: Introduction: Alport syndrome (AS; OMIM#308940) is a progressive hereditary kidney disease characterized by hearing loss and ocular abnormalities. According to the mode of inheritance, AS has three subtypes: X-linked (XL; OMIM#301050), autosomal recessive (AR; OMIM#203780),… read more here.
Keywords: splicing variant; col4a5 gene; variant col4a5; gene ... See more keywords
Somatostatin Receptor Splicing Variant sst5TMD4 Overexpression in Glioblastoma Is Associated with Poor Survival, Increased Aggressiveness Features, and Somatostatin Analogs Resistance
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23031143
Abstract: Glioblastoma (GBM) is the most malignant and lethal brain tumor. Current standard treatment consists of surgery followed by radiotherapy/chemotherapy; however, this is only a palliative approach with a mean post-operative survival of scarcely ~12–15 months.… read more here.
Keywords: sst5tmd4 overexpression; splicing variant; survival; gbm ... See more keywords
Identification and Characterization of a New Splicing Variant of Prokineticin 2
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DOI: 10.3390/life12020248
Abstract: Prokineticin 2 (PROK2) is a secreted bioactive peptide that regulates a variety of biological responses via two GPCRs, the prokineticin receptors (PROKRs). The aim of this study was to characterize a new alternatively spliced product… read more here.
Keywords: splicing variant; characterization new; new splicing; prokineticin ... See more keywords