Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease‐causing variants
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DOI: 10.1002/mgg3.2081
Abstract: Hyperphenylalaninemia (HPA) is the most common inborn error of amino acid metabolism worldwide. At least 2% of HPA cases are caused by a deficiency in tetrahydrobiopterin (BH4) metabolism. Genes such as QDPR and PTS are… read more here.
Keywords: genetic evaluation; causing variants; hyperphenylalaninemia; disease causing ... See more keywords
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations
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DOI: 10.1038/s41431-021-01012-7
Abstract: Exome sequencing has been increasingly implemented in prenatal genetic testing for fetuses with morphological abnormalities but normal rapid aneuploidy detection and microarray analysis. We present a retrospective study of 90 fetuses with different abnormal ultrasound… read more here.
Keywords: causing variants; novel disease; singleton exome; disease ... See more keywords
Prediction of structural consequences for disease causing variants in C21orf2 protein using computational approaches
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Biomolecular Structure and Dynamics"
DOI: 10.1080/07391102.2018.1429313
Abstract: Amyotrophic lateral sclerosis (ALS), a progressive motor-neurone disease, affects individuals usually aged between 50 and 70 years. C21orf2, recently identified as the new ALS susceptibility gene, harbours rare missense mutations that cause this fatal disease.… read more here.
Keywords: prediction structural; consequences disease; disease causing; disease ... See more keywords
Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient
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DOI: 10.1111/cge.13700
Abstract: Disease‐causing variants in TGFB3 cause an autosomal dominant connective tissue disorder which is hard to phenotypically delineate because of the small number of identified cases. The purpose of this retrospective cross‐sectional multicenter study is to… read more here.
Keywords: disease causing; homozygous patient; tgfb3 disease; disease ... See more keywords
Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma
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DOI: 10.1371/journal.pone.0274335
Abstract: Background Primary congenital glaucoma (PCG) is a heterogeneous rare recessively inherited disorder prevalent in regions with high consanguinity. Disease phenotype is associated with increased intra ocular pressure and is a major cause of childhood blindness.… read more here.
Keywords: causing variants; disease; pcg; cyp1b1 gene ... See more keywords
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases
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DOI: 10.3389/fped.2022.974840
Abstract: Background Steroid resistant nephrotic syndrome (SRNS) represents a significant renal disease burden in childhood and adolescence. In contrast to steroid sensitive nephrotic syndrome (SSNS), renal outcomes are significantly poorer in SRNS. Over the past decade,… read more here.
Keywords: causing variants; disease; steroid resistant; disease causing ... See more keywords
Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract
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DOI: 10.3390/genes11050512
Abstract: Pediatric cataract is clinically and genetically heterogeneous and is the most common cause of childhood blindness worldwide. In this study, we aimed to identify disease-causing variants in three large British families and one isolated case… read more here.
Keywords: congenital cataract; disease causing; variant; causing variants ... See more keywords