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A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa
BackgroundJunctional epidermolysis bullosa (JEB) is a rare inherited genetic disorder in which pathogenic mutations are mostly located within exons...
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A HUWE1 defect causes PARP inhibitor resistance by modulating the BRCA1-∆11q splice variant
Although PARP inhibitors (PARPi) now form part of the standard-of-care for the treatment of homologous recombination defective cancers, de novo and...
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A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report
BackgroundGorlin syndrome (GS) is a rare genetic disorder inherited in an autosomal dominant manner caused by genetic variants in PTCH1 , SUFU, or PTCH2...
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A BRCA1 Splice Site Variant Responsible for Familial Ovarian Cancer in a Han-Chinese Family
ObjectiveOvarian cancer (OC) is one of the most common and most lethal gynecological malignancies. OC has an age-dependent incidence and occurs more...
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Periostin splice variants affect craniofacial growth by influencing chondrocyte hypertrophy
IntroductionPeriostin, an extracellular matrix protein, plays an important role in osteogenesis and is also known to activate several signals that...
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All reported non-canonical splice site variants in GLA cause aberrant splicing
BackgroundFabry disease is an X-linked lysosomal storage disorder caused by insufficient α-galactosidase A (GLA) activity resulting from variants in...
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A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D
Charcot-Marie-Tooth disease, type 4D (CMT4D) is a progressive, autosomal recessive form of CMT, characterized by distal muscle weakness and atrophy,...
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Androgen receptor splice variant-7 in breast cancer: clinical and pathologic correlations
Androgen receptor (AR) inhibitor therapy is a develo** treatment for AR-positive breast cancer (BC) with ongoing clinical trials. AR splice...
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Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30
Dystonia is a hyperkinetic movement disorder characterized by sustained or intermittent involuntary muscle contractions, causing abnormal postures...
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A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a
DNM1 developmental and epileptic encephalopathy (DEE) is characterized by severe to profound intellectual disability, hypotonia, movement disorder,...
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Longitudinal assessment of reactivity and affinity profile of anti-Jo1 autoantibodies to distinct HisRS domains and a splice variant in a cohort of patients with myositis and anti-synthetase syndrome
BackgroundTo address the reactivity and affinity against histidyl-transfer RNA synthetase (HisRS) autoantigen of anti-Jo1 autoantibodies from serum...
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Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy
Hypertrophic and dilated cardiomyopathy (HCM, DCM) are leading causes of cardiovascular morbidity and mortality in children. The pseudokinase...
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Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome
BackgroundMarfan syndrome (MFS) is an autosomal dominant connective tissue disease with wide clinical heterogeneity, and mainly caused by pathogenic...
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New splice site mutations in MYO7A causing Usher syndrome type 1: a study on a Chinese consanguineous family
PurposeThis study investigated the new splice site mutations of Myosin VIIA ( MYO7A ) in patients with Usher syndrome type 1 (USH1) from a...
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Genetic, morphological and electrophysiological findings in a patient with a rare pathogenic variant in the RS1 gene
PurposeIn this study, we report a case of a young adult with X-linked juvenile retinoschisis (XLRS) with a rare pathogenic variant in the RS1 gene...
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Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families
BackgroundLynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome. This condition is characterized by germline variants in...
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