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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.
Chorev, Michal +2 more
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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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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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Gene Architecture Facilitates Intron-Mediated Enhancement of Transcription
Frontiers in Molecular Biosciences, 2021 Introns impact several vital aspects of eukaryotic organisms like proteomic plasticity, genomic stability, stress response and gene expression. A role for introns in the regulation of gene expression at the level of transcription has been known for more ...
Katherine Dwyer +3 more
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EXFI: Exon and splice graph prediction without a reference genome
Ecology and Evolution, 2020 For population genetic studies in nonmodel organisms, it is important to use every single source of genomic information. This paper presents EXFI, a Python pipeline that predicts the splice graph and exon sequences using an assembled transcriptome and ...
Jorge Langa +2 more
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