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721
Association of a BACE1 Gene Polymorphism with Parkinson’s Disease in a Norwegian Population
Published 2015-01-01“…Amyloid-beta peptide is generated by sequential proteolysis of amyloid precursor protein (APP), and genetic variations in the processing pathway genes have been found to increase the risk of AD; however, the contribution in PD is unknown. …”
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722
Light-dependent variations in fatty acid profiles and gene expression in Antarctic microalgal cultures
Published 2025-01-01Get full text
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723
Polymorphism T3111C of the Clock gene in ethnic groups of women from Russia and Buryatia
Published 2018-04-01Subjects: Get full text
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724
Identification of the gene coding for seed cotyledon albumin SCA in the pea (Pisum L.) genome
Published 2022-07-01“…Using them, the corresponding gene SCA was mapped on Linkage Group V. This protein was used as a useful genetic and phylogeographical marker, which still required electrophoretic analysis of the protein while the DNA sequence of the corresponding SCA gene remained unknown. …”
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725
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726
Ensuring patient access to gene therapies for rare diseases: Navigating reimbursement and coverage challenges
Published 2025-03-01“…It emphasizes the need to account for the broader value of gene therapies, incorporate input from disease-specific clinical experts in payer coverage decisions, and reduce administrative barriers to coverage. …”
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727
Polymorphism of the rps16 gene intron in Malus Mill. and related Rosaceae Juss. species
Published 2017-11-01“…The intron of the chloroplast rps16 gene encoding ribosomal protein 16S belongs to group II introns, which have the capacity to self-splice. …”
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728
Combining and congruence evaluation of phylogenetic signals from different genes based on geometric approach
Published 2017-02-01“…The matrix of Euclidean distances between the species centroids is calculated for each gene. Mantel test is applied to estimate pairwise similarity (congruence) of interspecies distances matrices relating to different genes. nDNA genes congruence is equal 0.961, mtDNA – 0.748. …”
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729
Integrated gene expression and alternative splicing analysis in human and mouse models of Rett syndrome
Published 2025-01-01Subjects: Get full text
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730
Single‐Cell Simultaneous Metabolome and Transcriptome Profiling Revealing Metabolite‐Gene Correlation Network
Published 2025-01-01“…Moreover, metabolite signatures are mapped to the single‐cell trajectory and gene correlation network of macrophage transition, which allows the unsupervised functional interpretation of metabolome. …”
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731
Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency
Published 2024-12-01“…Cernunnos/XLF deficiency is a rare, severe combined immunodeficiency, inherited in an autosomal recessive pattern (OMIM number: 611290), related to the NHEJ1 gene. This gene participates in the DNA non-homologous end-joining pathway, repairing double-strand breaks in the DNA of mammalian cells. …”
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732
Tumor mutational burden quantification from targeted gene panels: major advancements and challenges
Published 2019-07-01“…In the clinical setting, instead, targeted enrichment panels (gene panels) of various genomic sizes are emerging as the routine technology for TMB assessment. …”
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733
Association between CAPN-10 gene variant and diabetes mellitus in Nigeria: a review
Published 2025-02-01“…Genetic factors, particularly variations in the CAPN-10 gene, have been implicated in T2DM susceptibility across diverse populations. …”
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734
The Impact of Interferon Lambda 3 Gene Polymorphism on Natural Course and Treatment of Hepatitis C
Published 2012-01-01Get full text
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735
Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa
Published 2015-01-01“…This study describes a patient with retinitis pigmentosa caused by a mutation in the ABCA4 gene with complex allele c.1622T>C, p.L541P; c.3113C>T, p.A1038V in homozygous state.…”
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736
Structure and origin of Tuvan gene pool according to autosome SNP and Y-chromosome haplogroups
Published 2023-03-01Subjects: “…gene pool…”
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737
Current Progress on MicroRNA-Based Gene Delivery in the Treatment of Osteoporosis and Osteoporotic Fracture
Published 2019-01-01“…Undoubtedly, microRNA-based gene therapies show great potential to become novel approaches against bone-related diseases, including osteoporosis and associated fractures. …”
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738
Novel gene manipulation approaches to unlock the existing bottlenecks of CAR-NK cell therapy
Published 2025-02-01Subjects: Get full text
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739
Biofilm Formation and Detection of Fluoroquinolone- and Carbapenem-Resistant Genes in Multidrug-Resistant Acinetobacter baumannii
Published 2019-01-01“…The aim of this study was to determine biofilm formation and its potential association with genes involved in antibiotic resistance mechanisms of A. baumannii isolates of different clinical specimens. …”
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740
Methylation Status of Vitamin D Receptor Gene Promoter in Benign and Malignant Adrenal Tumors
Published 2015-01-01“…Downregulation of VDR gene expression may result from epigenetics events, that is, methylation of cytosine nucleotide of CpG islands in VDR gene promoter. …”
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