Results 21 to 30 of about 880,486 (157)
Bio-Protocol, 2019 The construction of Hybrid minigenes provides a robust and simple strategy to study the effects of disease-causing mutations on mRNA splicing when biological material from patient cells is not available.
David Sanz, Patrick Harrison
doaj +1 more source
, 2022 SIMPLE SUMMARY: Loss-of-function variants of the RAD51C gene are known to confer a risk of breast and ovarian cancers. In this study, we analyzed the impact of RAD51C variants on splicing, a highly regulated gene expression step by which introns are ...
Alberto Valenzuela-Palomo +20 more
core +1 more source
A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy
Annals of Clinical and Translational Neurology, 2020 Objective To identify the genetic cause in an adult ovarioleukodystrophy patient resistant to diagnosis. Methods We applied whole‐exome sequencing (WES) to a vanishing white matter disease patient associated with premature ovarian failure at 26 years of ...
Agustí Rodríguez‐Palmero +11 more
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Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing
Orphanet Journal of Rare Diseases, 2021 Objective To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD). Subjects and methods: Genomic DNA was extracted from a Chinese 46, XY DSD patient.
Bingqing Yu +5 more
doaj +1 more source
Frontiers in Cardiovascular Medicine, 2021 Brugada syndrome (BrS) is a complexly genetically patterned, rare, malignant, life-threatening arrhythmia disorder. It is autosomal dominant in most cases and characterized by identifiable electrocardiographic patterns, recurrent syncope, nocturnal ...
Meng Yuan +9 more
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Assessing the effects of ANO7 mutations on mRNA splicing using a minigene splicing assay [PDF]
, 2021 Prostate cancer (PrCa) is the most common cancer type in men. Dysregulated splicing is considered a hallmark of cancer, and PrCa has its own characteristic splicing landscape. Alternative splicing (AS) enables production of multiple protein isoforms
Tulonen, Nea
core
Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants [PDF]
, 2021 PALB2 loss-of-function variants confer high risk of developing breast cancer. Here we present a systematic functional analysis of PALB2 splice-site variants detected in approximately 113,000 women in the large-scale sequencing project Breast Cancer ...
Pérez Segura, Pedro +16 more
core +7 more sources
Human Genome Variation, 2021 Recently, altered PLP1 splicing was confirmed as a genetic cause of hypomyelination of early myelinating structures (HEMS). A novel deep intronic deletion in intron 3 of PLP1 (NM_000533.5: c.453+59_+259del) was identified, and an in vitro minigene assay ...
Keiko Yamamoto-Shimojima +5 more
doaj +1 more source
BMC Nephrology, 2017 Background Autosomal recessive distal renal tubular acidosis (dRTA) is a rare hereditary disease caused by pathogenic variants in the ATP6V0A4 gene or ATP6V1B1 gene, and characterized by hyperchloremic metabolic acidosis with normal anion gap ...
Tomohiko Yamamura +15 more
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Effect of RHAG variants identified in Chinese population on RHAG mRNA splicing in vitro
Zhongguo shuxue zazhi, 2023 Objective To study the effect of RHAG variants identified in Chinese population on mRNA splicing by minigene splicing assay(MSA) in vitro. Methods The pSplicePOLR2G minigene expression plasmids were constructed for 10 RHAG mutations with relatively high ...
Shuangshuang JIA +5 more
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