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Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing
For non-syndromic cleft lip with or without cleft palate (ns-CL/P), the proportion of heritability explained by the known risk loci is estimated to...
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A new chromosome-scale duck genome shows a major histocompatibility complex with several expanded multigene families
BackgroundThe duck (Anas platyrhynchos) is one of the principal natural hosts of influenza A virus (IAV), harbors almost all subtypes of IAVs and...
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Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective
The aim of this study was to assess the prevalence of germline variants in cancer-predisposing genes by either targeted ( BRCA1/2 ) or multigene NGS...
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Paralog transcriptional differentiation in the D. melanogaster-specific gene family Sdic across populations and spermatogenesis stages
How recently originated gene copies become stable genomic components remains uncertain as high sequence similarity of young duplicates precludes...
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Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families
BackgroundTrichohepatoenteric syndrome (THES) is characterized by neonatal-onset intractable diarrhea. It often requires long-term total parenteral...
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Reconstructing Gene Gains and Losses with BadiRate
Estimating gene gain and losses is paramount to understand the molecular mechanisms underlying adaptive evolution. Despite the advent of...
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Investigation of mutation spectrum amongst patients with familial primary cardiomyopathy using targeted NGS in Indian population
Genetic cardiomyopathies (CM) are disorders that affect morphology and function of cardiac muscle. Significant number of genes have been implicated...
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Alpha-smooth muscle actin-positive cancer-associated fibroblasts secreting osteopontin promote growth of luminal breast cancer
BackgroundCancer-associated fibroblasts (CAFs) have been shown to support tumor development in a variety of cancers. Different markers were applied...
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Postoperative circulating tumor DNA detection and CBLB mutations are prognostic biomarkers for gastric cancer
BackgroundSeveral studies have demonstrated that circulating tumor DNA (ctDNA) can be used to predict the postoperative recurrence of several...
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Transformation to small cell lung cancer is irrespective of EGFR and accelerated by SMAD4-mediated ASCL1 transcription independently of RB1 in non-small cell lung cancer
ObjectivesHistological transformation to small cell lung cancer (SCLC) has been identified as a mechanism of TKIs resistance in EGFR -mutant...
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A novel chromatin regulator-related immune checkpoint related gene prognostic signature and potential candidate drugs for endometrial cancer patients
BackgroundEndometrial cancer (EC) is the most common gynecologic malignancy in developed countries and its prevalence is increasing. As an emerging...
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Alpha- and Beta-Expansins Expressed in Different Zones of the Growing Root of Maize
AbstractExpansins are small proteins that play a key role in modifying the structure of the cell wall during various physiological processes, in...
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The structural components of the Azotobacter vinelandii iron-only nitrogenase, AnfDKG, form a protein complex within the plant mitochondrial matrix
A long-held goal of synthetic biology has been the transfer of a bacterial nitrogen-fixation pathway into plants to reduce the use of chemical...
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Pharmacogenetic study of CES1 gene and enalapril efficacy
Enalapril is an orally administered angiotensin-converting enzyme inhibitor which is widely prescribed to treat hypertension, chronic kidney disease,...
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Introgression and targeting of the Pl37 and Pl38 genes for downy mildew resistance from wild Helianthus annuus and H. praecox into cultivated sunflower (Helianthus annuus L.)
Key messageTwo new downy mildew resistance genes, Pl 37 and Pl 38 , were introgressed from wild sunflower species into cultivated sunflower and mapped...
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Efficient and markerless gene integration with SlugCas9-HF in Kluyveromyces marxianus
The nonconventional yeast Kluyveromyces marxianus has potential for industrial production, but the lack of advanced synthetic biology tools for...
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Genome-wide investigation of UDP-Glycosyltransferase family in Tartary buckwheat (Fagopyrum tataricum)
BackgroundTartary buckwheat ( Fagopyrum tataricum ) belongs to Polygonaceae family and has attracted increasing attention owing to its high...
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A novel pathogenic variation of DOCK6 gene: the genotype-phenotype correlation in Adams-Oliver syndrome
BackgroundAdams-Oliver syndrome (AOS) (#614,219) is a multiple malformation disorder characterized by the presence of aplasia cutis congenita (ACC)...
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Babesia duncani multi-omics identifies virulence factors and drug targets
Babesiosis is a malaria-like disease in humans and animals that is caused by Babesia species, which are tick-transmitted apicomplexan pathogens. Babesi...
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Construction of single, double, or triple mutants within kojic acid synthesis genes kojA, kojR, and kojT by the CRISPR/Cas9 tool in Aspergillus oryzae
Kojic acid is an industrially important secondary metabolite produced by Aspergillus oryzae . The construction of genetic materials for kojic acid...
