Results 11 to 20 of about 537,790 (185)
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients [PDF]
Scientific Reports, 2023 Over 15% of probands in a large cohort of more than 1500 inherited retinal degeneration patients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic variants in the ABCA4 gene ...
Laura Whelan +16 more
doaj +4 more sources
A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia
Circulation. Genomic and precision medicine, 2018 BACKGROUND: Familial hypercholesterolemia (FH) is an inherited disorder characterized by high plasma LDL-C (low-density lipoprotein-cholesterol) levels. The vast majority of FH patients carry a mutation in the coding region of LDLR, APOB, or PCSK9.
Reeskamp, Laurens F. +7 more
core +3 more sources
Intronic variant in POU1F1 associated with canine pituitary dwarfism [PDF]
Yearbook of Paediatric Endocrinology, 2021 The 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 ...
Arumilli, Meharji +5 more
core +5 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 Genomic Medicine, 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, Chien-Yi +8 more
openaire +6 more sources
Frontiers in Genetics, 2023 Background: Hereditary spherocytosis (HS) is a congenital haemolytic anaemia attributed to dysregulation or abnormal quantities of erythrocyte membrane proteins.
Bixin Xi +5 more
doaj +1 more source
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
The Application of Clinical GeneticsGuobing Zheng,1,* Chenxia Xu,1,* Fenghua Xie,1 Qiaoli Li,2 Zhanhui Ou,3 Degang Wang,1 Haijun Li1 1Prenatal Diagnosis Center, Boai Hospital of Zhongshan, Zhongshan, Guangdong, 528400, People’s Republic of China; 2Department of ...
Zheng G +6 more
doaj +2 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
Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome [PDF]
, 2023 Aicardi-Goutières syndrome (AGS) is a progressive multisystem disorder including encephalopathy with significant impacts on intellectual and physical abilities. An early diagnosis is becoming ever more crucial, as targeted therapies are emerging.
Leung, Marco +11 more
core +1 more source