A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51131
Abstract: To identify the genetic cause in an adult ovarioleukodystrophy patient resistant to diagnosis. read more here.
Keywords: hypomorphic splice; novel hypomorphic; eif2b5 gene; splice variant ... See more keywords
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12526
Abstract: Mitochondrial complex V plays an important role in oxidative phosphorylation by catalyzing the generation of ATP. Most complex V subunits are nuclear encoded and not yet associated with recognized Mendelian disorders. Using exome sequencing, we… read more here.
Keywords: mitochondrial complex; variant atp5po; homozygous splice; atp5po ... See more keywords
A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation
Sign Up to like & getrecommendations! Published in 2017 at "Movement Disorders"
DOI: 10.1002/mds.26922
Abstract: PD patients treated with STN-DBS and LCIG, worsening activities of daily living by threefold after adjusting for cognitive impairment, age, and motor severity. Importantly, both symptomatic and asymptomatic orthostatic hypotension impaired ADL/iADL to a similar… read more here.
Keywords: neurodegeneration brain; mimicking neurodegeneration; ap4s1 mimicking; variant ap4s1 ... See more keywords
A secreted PD-L1 splice variant that covalently dimerizes and mediates immunosuppression
Sign Up to like & getrecommendations! Published in 2018 at "Cancer Immunology, Immunotherapy"
DOI: 10.1007/s00262-018-2282-1
Abstract: Targeting immune checkpoint pathways, such as programmed death ligand-1 (PD-L1, also known as CD274 or B7-H1) or its receptor programmed cell death-1 (PD-1) has shown improved survival for patients with numerous types of cancers, not… read more here.
Keywords: variant; secreted splice; splice variant; cell ... See more keywords
An Alternative Splice Variant of Chloride Intracellular Channel 5 Protein, (CLIC5B) Regulates Cardiac Mitochondrial Localization and Function of CLIC5
Sign Up to like & getrecommendations! Published in 2017 at "Biophysical Journal"
DOI: 10.1016/j.bpj.2016.11.1760
Abstract: Mitochondrial bioenergetics is critical for the cell survival. Mitochondrial ion channels like BKCa and KATP play a significant role in cardio-protection from ischemia-reperfusion (IR) injury possibly by modulating the mitochondrial physiology. Interestingly, inner mitochondrial membrane… read more here.
Keywords: chloride intracellular; splice; alternative splice; variant chloride ... See more keywords
Intron retention as an alternative splice variant of the cattle ANGPTL6 gene.
Sign Up to like & getrecommendations! Published in 2019 at "Gene"
DOI: 10.1016/j.gene.2019.05.031
Abstract: Angiopoietin-like protein 6, which is encoded by ANGPTL6 gene (also known as angiopoietin growth factor, AGF), has been extensively characterized with regard to its proposed functions as angiogenesis and energy metabolism. The present results showed… read more here.
Keywords: splice variant; gene; intron retention; angptl6 gene ... See more keywords
A kinase-deficient NTRK2 splice variant predominates in glioma and amplifies several oncogenic signaling pathways
Sign Up to like & getrecommendations! Published in 2020 at "Nature Communications"
DOI: 10.1038/s41467-020-16786-5
Abstract: Independent scientific achievements have led to the discovery of aberrant splicing patterns in oncogenesis, while more recent advances have uncovered novel gene fusions involving neurotrophic tyrosine receptor kinases (NTRKs) in gliomas. The exploration of NTRK… read more here.
Keywords: splice; kinase; splice variant; gene ... See more keywords
NEMO splice variant causes distinct autoinflammatory syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Nature Reviews Rheumatology"
DOI: 10.1038/s41584-022-00782-8
Abstract: New research has identified an autoinflammatory syndrome caused by mutations in NEMO-encoding IKBKG, leading to NF-κB activation and type I interferon production. read more here.
Keywords: variant causes; splice variant; causes distinct; nemo splice ... See more keywords
Androgen receptor and its splice variant, AR-V7, differentially induce mRNA splicing in prostate cancer cells
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-81164-0
Abstract: Prostate cancer (PCa) is dependent on the androgen receptor (AR). Advanced PCa is treated with an androgen deprivation therapy-based regimen; tumors develop resistance, although they typically remain AR-dependent. Expression of constitutively active AR variants lacking… read more here.
Keywords: receptor splice; splice variant; androgen receptor; prostate cancer ... See more keywords
Splice variant of STEAP4 localizes in the nucleus, making it a possible transcriptional regulator of IL-6 production
Sign Up to like & getrecommendations! Published in 2018 at "Modern Rheumatology"
DOI: 10.1080/14397595.2018.1484415
Abstract: Rheumatoid arthritis (RA) is a chronic, systemic inflammatory disease of the joints, mediated primarily by proinflammatory cytokines such as tumor necrosis factor alpha (TNF-α) and interleukin-6 (I... read more here.
Keywords: localizes nucleus; making possible; steap4 localizes; splice variant ... See more keywords
Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R
Sign Up to like & getrecommendations! Published in 2021 at "Channels"
DOI: 10.1080/19336950.2021.1875645
Abstract: ABSTRACT Background: Mutations in SCN5A that decrease Na current underlie arrhythmia syndromes such as the Brugada syndrome (BrS). SCN5A in humans has two splice variants, one lacking a glutamine at position 1077 (Q1077del) and one… read more here.
Keywords: splice; background; splice variant; r1512w ... See more keywords