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Mutation analysis of exon 5 of PAH gene in phenylketonuria patients from Golestan Province, Iran [PDF]
Journal of Shahrekord University of Medical Sciences, 2022 Background and aims: In the phenylalanine hydroxylase (PAH) gene, various mutations are mainly responsible for phenylketonuria (PKU). After thalassemia, PKU is considered as the most common autosomal recessive disease among Iranian population. Therefore,
Mehrnaz Zarinkoob +1 more
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Diagnostics, 2023 Hashimoto’s thyroiditis (HT) is a chronic autoimmune disorder characterized by the production of autoantibodies against the thyroid gland. Different studies have shown that several genes may be associated with HT, which explains why patients often have ...
Alin-Dan Chiorean +7 more
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A novel AIRE mutation leads to autoimmune polyendocrine syndrome type-1
Frontiers in Cell and Developmental Biology, 2022 Autoimmune polyendocrine syndrome type-1 (APS-1) is a rare inherited monogenic autoimmune disease characterized by the presence of at least two of three following major clinical features: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal
Guofeng Qian +5 more
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JuncDB: an exon–exon junction database [PDF]
Nucleic Acids Research, 2015 Intron positions upon the mRNA transcript are sometimes remarkably conserved even across distantly related eukaryotic species. This has made the comparison of intron-exon architectures across orthologous transcripts a very useful tool for studying various evolutionary processes.
Michal Chorev, Lotem Guy, Liran Carmel
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Microorganisms, 2022 The conventionally clear distinction between exons and introns in eukaryotic genes is actually blurred. To illustrate this point, consider sequences that are retained in mature mRNAs about 50% of the time: how should they be classified?
Judith Ryll +2 more
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Frontiers in Genetics, 2022 Primary Coenzyme Q10 Deficiency-7 (COQ10D7) is a rare mitochondrial disorder caused by pathogenic COQ4 variants. In this review, we discuss the correlation of COQ4 genotypes, particularly the East Asian-specific c.370G > A variant, with the clinical ...
Jieqiong Xie +3 more
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Nucleic Acids Research, 2023 Abstract It is now widely accepted that aberrant splicing of constitutive exons is often caused by mutations affecting cis-acting splicing regulatory elements (SREs), but there is a misconception that all exons have an equal dependency on SREs and thus a similar vulnerability to aberrant splicing.
Lise L. Holm +5 more
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Molecular Cell, 2010 Pathways of intron/exon specification that drive spliceosome assembly remain unclear. In this issue of Molecular Cell, Schneider et al. (2010) extensively characterize complexes formed on exons, demonstrating unexpected components and providing insights into the switch from cross-exon to cross-intron interactions.
Moldón, Alberto, Query, Charles
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Detection of internal exon deletion with exon Del [PDF]
BMC Bioinformatics, 2014 Exome sequencing allows researchers to study the human genome in unprecedented detail. Among the many types of variants detectable through exome sequencing, one of the most over looked types of mutation is internal deletion of exons. Internal exon deletions are the absence of consecutive exons in a gene.
Yan Guo +7 more
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Molecular Profiling of FIX (FACTOR 9) Gene of Hemophilia B in Karnataka
BLDE University Journal of Health Sciences, 2020 Introduction: Haemophilia is one of the “Bleeder Disorder” that causes abnormal bleeding or poor blood clotting. It occurs due to the defect in the clotting factors even in their functions and in some cases structures are altered.
Sujayendra Kulkarni +6 more
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