The Exon-Based Transcriptomic Analysis of Parkinson's Disease. [PDF]
BiomoleculesParkinson’s disease (PD) is a neurodegenerative disease with a complicated pathophysiology and diagnostics. Blood-based whole transcriptome analysis of the longitudinal PPMI cohort was performed with a focus on the change in the expression of exons to ...
Kõks S.
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Systematic revelation and meditation on the significance of long exons using representative eukaryotic genomes. [PDF]
BMC GenomicsBackground Long exons/introns are not evenly distributed in the genome, but the biological significance of this phenomenon remains elusive. Materials and methods Exon properties were analyzed in seven well-annotated reference genomes, including human and
Duan Y, Cao Q.
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Evolutionarily Developed Alternatively Spliced Exons Containing Translation Initiation Sites. [PDF]
CellsAlternative splicing is essential for the generation of various protein isoforms that are involved in cell differentiation and tissue development. In addition to internal coding exons, alternative splicing affects the exons with translation initiation ...
Takeda JI, Okamoto T, Masuda A.
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Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons. [PDF]
Mol Genet Genomic MedBackground Whole exome sequencing (WES) aids in diagnosing monogenic diseases, yet > 50% of all cases remain undiagnosed. We aimed to improve diagnostic precision by developing an effective WES‐based strategy for detecting congenital anomalies.
Taniguchi K +15 more
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Investigating the Genetic Sequence of Exons and Exon-intron Junction Sequences of CFTR Gene by PCR Method in Families Suspected of Cystic Fibrosis in Khuzestan Province [PDF]
مجله دانشکده پزشکی اصفهان, 2023 Background: Cystic fibrosis is one of the most fatal multisystem disorders and the most common autosomal recessive disease in the white population, which occurs due to mutations in cystic fibrosis membrane regulatory proteins (CFTR).
Leili Delfi Fallah +4 more
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Reversing T Cell Exhaustion by Converting Membrane PD-1 to Its Soluble form in Jurkat Cells; Applying The CRISPR/Cas9 Exon Skipping Strategy [PDF]
Cell Journal, 2023 Objective: T-cells express two functional forms of the programmed cell death protein 1 (PD-1): membrane (mPD-1) andsoluble (sPD-1). The binding of mPD-1 and its ligand (PD-L1) on tumor cells could lead activated lymphocytes towardexhaustion.
Zeinab Yousefi-Najafabadi +5 more
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Regulation of Tau Expression in Superior Cervical Ganglion (SCG) Neurons In Vivo and In Vitro
Cells, 2023 The superior cervical ganglion (SCG) is part of the autonomic nervous system providing sympathetic innervation to the head and neck, and has been regularly used to prepare postnatal neuronal cultures for cell biological studies.
Ying Jin +3 more
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Agricultura Tropica et Subtropica, 2021 The interferon regulatory factor gene family encodes transcription factors with multiple biological functions, which include reproduction, cell differentiation and immunity.
Durosaro Samuel Olutunde +3 more
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Zhongguo shuxue zazhi, 2022 Objective To investigate the distribution frequency and characteristics of Rh and Kell erythrocyte blood group antigens in Uygur population in Xinjiang, and to explore the molecular mechanism of K gene positive patients, so as to build a local rare blood
Jin QIU +5 more
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Duchenne's/Becker's muscular dystrophy: Analysis of genotype-feno-type correlation in 28 patients [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2002 Duchenne's and Becker's muscular dystrophy (DMD & BMD) is a X linked disease caused by mutations in the dystrophic gene. DMD is the malign form of the disease, which significantly shortens the lifetime of the patient, while BMD has late onset with ...
Keckarević Milica +7 more
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