Results 21 to 30 of about 537,790 (185)
Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing
Orphanet Journal of Rare Diseases, 2023 Background Phenylketonuria (PKU) is an autosomal recessive congenital metabolic disorder caused by PAH variants. Previously, approximately 5% of PKU patients remained undiagnosed after Sanger sequencing and multiplex ligation-dependent probe ...
Chuan Zhang +12 more
doaj +1 more source
An intron 9 containing splice variant of PAX2 [PDF]
Journal of Translational Medicine, 2009 PAX2 is a transcription factor with an important role in embryogenic development. However, PAX2 expression was frequently identified in neoplasia responsible for the growth and survival of cancer cells. Due to alternative splicing of exon 6, exon 10 and exon 12 four isoforms of PAX2 are described so far.The expression of an intron 9 containing PAX2 ...
Thiel Eckhard +4 more
openaire +3 more sources
npj Genomic Medicine, 2021 Here we report an infant with clinical findings suggestive of Jervell and Lange-Nielsen syndrome (JLNS), including a prolonged QT interval (LQTS) and chronic bilateral sensorineural deafness.
Mario Torrado +10 more
doaj +1 more source
DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome. [PDF]
Clin ImmunolDedicator of cytokinesis 8 (DOCK8) deficiency underlies the majority of cases of patients with autosomal recessive form of the hyper-immunoglobulin E syndrome (HIES).
Oktelik FB +10 more
europepmc +2 more sources
Molecular Genetics & Genomic Medicine, 2023 Background Intronic variants outside the canonical splice site are challenging to interpret and therefore likely represent an underreported cause of human disease. Autosomal recessive variants in DYNC2H1 are associated with short‐rib thoracic dysplasia 3
Aren E. Marshall +7 more
doaj +1 more source
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations. [PDF]
NPJ Genom Med, 2023 A male infant presented at term with neonatal respiratory failure and pulmonary hypertension. His respiratory symptoms improved initially, but he exhibited a biphasic clinical course, re-presenting at 15 months of age with tachypnea, interstitial lung ...
Flanagan FO +10 more
europepmc +2 more sources
An intronic variant in the GCKR gene is associated with multiple lipids [PDF]
Scientific Reports, 2019 AbstractPrevious studies have shown that an intronic variant rs780094 of the GCKR gene (glucokinase regulatory protein) is significantly associated with several metabolites, but the associations of this genetic variant with different lipids is largely unknown.
Lilian Fernandes Silva +3 more
openaire +2 more sources
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
doaj +1 more source
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
npj Genomic Medicine, 2023 Genomic sequences residing within introns of few genes have been shown to act as enhancers affecting expression of neighboring genes. We studied an autosomal recessive phenotypic continuum of microphthalmia, anophthalmia and ocular coloboma, with no ...
Ohad Wormser +16 more
doaj +1 more source
Toward a clinical diagnostic pipeline for SPINK1 intronic variants [PDF]
Human Genomics, 2019 The clinical significance of SPINK1 intronic variants in chronic pancreatitis has been previously assessed by various approaches including a cell culture-based full-length gene assay. A close correlation between the results of this assay and in silico splicing prediction was apparent.
Tang, Xin-Ying +10 more
openaire +6 more sources