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   Articles with "novel intronic" as a keyword



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NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay

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recommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.50910

Abstract: CAPN3 mutations cause a limb girdle muscular dystrophy. Functional characterization of novel mutations facilitates diagnosis of future cases. We have identified a novel (c.1992 + 2T>G) CAPN3 mutation that disrupts the donor splice site of… read more here.

Keywords: capn3 roma; novel intronic; capn3; intronic capn3 ... See more keywords
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Novel intronic RHD variants identified in serologically D‐negative blood donors

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recommendations! Published in 2017 at "Vox Sanguinis"

DOI: 10.1111/vox.12570

Abstract: Blood group genotyping is used to predict RhD phenotype in transfusion and obstetric medicine. Prediction of antigen D is based on molecular techniques which targets most common RHD‐specific polymorphism. However, inactive RHD variants can suggest… read more here.

Keywords: blood donors; novel intronic; rhd variants; serologically negative ... See more keywords
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Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome

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recommendations! Published in 2023 at "International Journal of General Medicine"

DOI: 10.2147/ijgm.s408631

Abstract: Aim Mutations in the SLC12A3 gene have been reported to cause Gitelman syndrome (GS), characterized by hypokalemic metabolic alkalosis. The aim of this research is to investigate the genetic mutations and clinical features of patients… read more here.

Keywords: mutations slc12a3; intronic mutations; slc12a3 gene; gitelman syndrome ... See more keywords
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Novel Intronic Mutations Introduce Pseudoexons in DMD That Cause Muscular Dystrophy in Patients

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recommendations! Published in 2021 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2021.657040

Abstract: Background: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are two subtypes of muscular dystrophy diseases caused by pathogenic mutations in the DMD gene. Until now, more than 4,600 disease-causing mutations in DMD have… read more here.

Keywords: dmd; intronic mutations; mutations introduce; novel intronic ... See more keywords
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Novel Intronic Mutations of TBK1 Promote Aberrant Splicing Modes in Amyotrophic Lateral Sclerosis

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recommendations! Published in 2022 at "Frontiers in Molecular Neuroscience"

DOI: 10.3389/fnmol.2022.691534

Abstract: TANK-binding kinase 1 (TBK1) has been identified as a causative gene of amyotrophic lateral sclerosis (ALS) in the Caucasian population in 2015. Here, we sequenced for TBK1 variants in a cohort of 15 familial ALS… read more here.

Keywords: splicing modes; lateral sclerosis; novel intronic; amyotrophic lateral ... See more keywords

Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability

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recommendations! Published in 2022 at "Journal of Personalized Medicine"

DOI: 10.3390/jpm12030502

Abstract: The RPGR gene encodes Retinitis Pigmentosa GTPase Regulator, a known interactor with ciliary proteins, which is involved in maintaining healthy photoreceptor cells. Variants in RPGR are the main contributor to X-linked rod-cone dystrophy (RCD), and… read more here.

Keywords: rpgr; ipsc; intronic rpgr; therapy ... See more keywords