Results 11 to 20 of about 50,370 (253)
Functional analysis of a novel FBN1 deep intronic variant causing Marfan syndrome in a Chinese patient [PDF]
Frontiers in GeneticsMarfan syndrome (MFS MIM#154700), due to pathogenic variants in the FBN1 gene, is an autosomal dominant connective tissue disorder, typically involving the skeletal, cardiovascular and ocular systems.
Qingming Wang +5 more
doaj +2 more sources
New ABO intron 1 variant alleles [PDF]
Immunohematology, 2021 Abstract Unusual and discrepant ABO phenotypes are often due to genetic variants that lead to altered levels or activity of ABO transferases and consequently to altered expression of ABO antigens. This report describes eight genetic alterations found in 15 cases with reduced or undetectable expression of ABO ...
Fennell, K. +16 more
openaire +3 more sources
A novel deep intronic variant strongly associates with Alkaptonuria. [PDF]
NPJ Genom Med, 2021 AbstractAlkaptonuria is a rare autosomal recessive inherited disorder of tyrosine metabolism, which causes ochronosis, arthropathy, cardiac valvular calcification, and urolithiasis. The epidemiology of alkaptonuria in East Asia is not clear. In this study, patients diagnosed with alkaptonuria from January 2010 to June 2020 were reviewed. Their clinical
Lai CY +8 more
europepmc +8 more sources
RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants [PDF]
Genome Biology, 2019 AbstractSingle nucleotide variants (SNVs) in intronic regions have yet to be systematically investigated for their disease-causing potential. Using known pathogenic and neutral intronic SNVs (iSNVs) as training data, we develop the RegSNPs-intron algorithm based on a random forest classifier that integrates RNA splicing, protein structure, and ...
Hai Lin +13 more
openaire +6 more sources
Genome Biology, 2023 Predicting the impact of coding and noncoding variants on splicing is challenging, particularly in non-canonical splice sites, leading to missed diagnoses in patients.
Patricia J. Sullivan +17 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
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
Intronic variant in POU1F1 associated with canine pituitary dwarfism [PDF]
Yearbook of Paediatric Endocrinology, 2021 AbstractThe anterior pituitary gland secretes several endocrine hormones, essential for growth, reproduction and other basic physiological functions. Abnormal development or function of the pituitary gland leads to isolated or combined pituitary hormone deficiency (CPHD).
Kaisa Kyöstilä +5 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
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