Results 1 to 10 of about 419,336 (183)

The "alternative" choice of constitutive exons throughout evolution. [PDF]

open access: yesPLoS Genetics, 2007
Alternative cassette exons are known to originate from two processes-exonization of intronic sequences and exon shuffling. Herein, we suggest an additional mechanism by which constitutively spliced exons become alternative cassette exons during evolution.
Galit Lev-Maor   +8 more
doaj   +12 more sources

The Exon-Based Transcriptomic Analysis of Parkinson’s Disease [PDF]

open access: yesBiomolecules
Parkinson’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 ...
Sulev Kõks
doaj   +2 more sources

Systematic revelation and meditation on the significance of long exons using representative eukaryotic genomes [PDF]

open access: yesBMC Genomics
Background 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
Yuange Duan, Qi Cao
doaj   +2 more sources

Investigation on the distribution frequency of Rh and Kell blood group antigens in the Uyghur population in Xinjiang and the molecular mechanism of Kell positive individuals

open access: yesZhongguo 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
doaj   +1 more source

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]

open access: yesمجله 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
doaj   +1 more source

Reversing T Cell Exhaustion by Converting Membrane PD-1 to Its Soluble form in Jurkat Cells; Applying The CRISPR/Cas9 Exon Skipping Strategy [PDF]

open access: yesCell 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
doaj   +1 more source

Regulation of Tau Expression in Superior Cervical Ganglion (SCG) Neurons In Vivo and In Vitro

open access: yesCells, 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
doaj   +1 more source

Duchenne's/Becker's muscular dystrophy: Analysis of genotype-feno-type correlation in 28 patients [PDF]

open access: yesSrpski 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
doaj   +1 more source

Low hybridization temperatures improve target capture success of invertebrate loci: a case study of leaf-footed bugs (Hemiptera: Coreoidea)

open access: yesRoyal Society Open Science, 2023
Target capture is widely used in phylogenomic, ecological and functional genomic studies. Bait sets that allow capture from a diversity of species can be advantageous, but high-sequence divergence from baits can limit yields.
Michael Forthman   +2 more
doaj   +1 more source

Identification and characterisation of single nucleotide polymorphisms in interferon regulatory factor-5 gene of Nigerian local chickens

open access: yesAgricultura 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
doaj   +1 more source

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