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SCI Abstract
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β-thalassemia due to de novo mutation IVS1-5(G > C) at HBB gene in three cases from West Bengal
Beta-thalassemia is the commonest single-gene blood disorder worldwide with global prevalence rate of 5–7%. It is al...
Egyptian Journal Of Medical Human Genetics
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The clinicopathological and prognostic significances of CMTM6 and PD-L1 expression in breast cancer
Chemokine-like factor-like MARVEL transmembrane domain-containing 6 (CMTM6) is recognized as a critical regulator of progr...
Egyptian Journal Of Medical Human Genetics
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Expression levels of taste genes, TAS1R1, TAS1R2 and TAS1R3 among SARS-CoV-2 patients
The most common symptoms of COVID-19 infection include fever, myalgia, cough, dyspnea, and loss of smell and taste. Some s...
Egyptian Journal Of Medical Human Genetics
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In silico analysis of non-synonymous single nucleotide polymorphisms of human ABCD1 gene associated with adrenoleukodystrophy
The ABCD1 gene is a part of the ABC transporter family that encodes proteins involved in lipid and metabolite transport. N...
Egyptian Journal Of Medical Human Genetics
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Case report: a novel heterozygous COL4A4 mutation causing autosomal dominant Alport syndrome
Autosomal Dominant Alport Syndrome (ADAS) is a rare genetic disorder caused by mutations in the COL4A3, COL4A4, or COL4A5 ...
Egyptian Journal Of Medical Human Genetics
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Analysis of the AP2/ERF transcription factor family in and its role in exogenous melatonin-mediated regulation of salt stress
AP2/ERF transcription factors (TFs) are involved in various regulatory pathways related to plant growth, development, and ...
Functional & Integrative Genomics
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Integrated multi-omics analysis and machine learning refine molecular subtypes and prognosis in hepatocellular carcinoma through O-linked glycosylation genes
O-glycosylation significantly influences cellular physiological processes and disease regulation by modulating the structu...
Functional & Integrative Genomics
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Multiplex CRISPR-Cas9 editing of chlorophyll biosynthesis genes in chickpea via protoplast and -mediated transformation
Chickpea is an important legume consumed worldwide and a rich source of protein. Chickpea is less amenable to recent gene ...
Functional & Integrative Genomics
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CircNOX4 promotes proliferation and resistance by regulating the hsa-miR-6884-5p/YWHAG Axis and ERK signaling pathway in cholangiocarcinoma
The biological function of circular RNAs (circRNAs) has been increasingly implicated in tumor drug resistance. However, th...
Functional & Integrative Genomics
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Comparative transcriptome analysis reveals the function of in alkanol synthesis in sugarcane
The wax of sugarcane buds, especially alkanol, was correlated to sugarcane smut resistance in previous studies. Moreover, ...
Functional & Integrative Genomics
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Correction to: Integration of scRNA-seq and bulk tissue RNA-seq data to identify cancer-associated fibroblast-related gene RGMA as a potential treatment target for esophageal cancer
Cite this articleGao, Y., Bao, S., Wen, B. et al. Correction to: Integration of scRNA-seq and bulk tissue RNA-seq data to ...
Functional & Integrative Genomics
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Whole-Genome analysis of MBBL2 genomic characterization and comparative genomics
This study presents the whole-genome sequencing and comprehensive analysis of Bacillus subtilis MBBL2, a strain isolated f...
Functional & Integrative Genomics
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Comparative pan-genome analysis of and and transcriptomics reveals thermal adaptation in
Huperzia and Phlegmariurus are ancient genera within the Lycopodiaceae family with significant medicinal value and ecologi...
Functional & Integrative Genomics
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Prognostic and therapeutic implications related to glycosylation profiles of cancer-associated fibroblasts in colorectal cancer: insights from single-cell and bulk transcriptomics
Glycosylation, a common post-translational modification of proteins, plays a role in numerous biological processes. Howeve...
Functional & Integrative Genomics
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Transcription factor BrEFM negatively regulates flowering time in Chinese cabbage
Flowering represents a critical developmental transition in plants. In Chinese cabbage, precise regulation of flowering ti...
Functional & Integrative Genomics
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A novel splice-site variant induces non-canonical GC-AG splicing and embryonic arrest in humans
Early embryonic arrest (EEA) represents the predominant cause of assisted reproductive technology (ART) failure. PADI6 was...
Functional & Integrative Genomics
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Plastome structure, evolution and diversity of Frankincense-producing genus
The genus Boswellia is famous for its commercially important frankincense production. Additionally, it has unique ecologic...
Functional & Integrative Genomics
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Correction to: Decoding fungal communication networks: molecular signaling, genetic regulation, and ecological implications
Correction to: Functional & Integrative GenomicsIn the original version of the ma...
Functional & Integrative Genomics
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Comparative analysis of key flavonoid synthesis genes in the transcriptome of and therapeutic target prediction for ulcerative colitis
Cayratia japonica is a traditional Chinese herbal plant rich in flavonoid compounds, with anti-inflammatory and anti-cance...
Functional & Integrative Genomics
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Comparative plastome analysis reveals evolutionary dynamics and codon usage patterns in (Asteraceae)
Plastome evolution in species-rich angiosperm lineages remains poorly understood despite recent advances in phylogenomics,...
Functional & Integrative Genomics
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Cytosine base editor-mediated high-efficiency myostatin editing in Hu sheep
The cytosine base editor (CBE) enables precise C-to-T substitution without inducing DNA double-strand breaks, which offeri...
Functional & Integrative Genomics
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Genomic insights into the antagonistic activity of PB24 against : implications for biocontrol and plant growth promotion strategies
Biotechnology and sustainable strategies are the way forward for increasing global food production. The use of plant growt...
Functional & Integrative Genomics
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MZB1-Driven Endoplasmic reticulum stress model as a predictor of breast cancer progression and survival
Endoplasmic reticulum (ER) stress and its associated unfolded protein response (UPR) have been demonstrated to play a cruc...
Functional & Integrative Genomics
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Validation of caprine H11 and the Rosa26 platform for transgene integration via CRISPR-based system: investigations on stable transgene expression and genetic biosafety
CRISPR/Cas9 technology is an efficient tool for site-specific livestock gene editing. However, to minimize potential disru...
Functional & Integrative Genomics
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MBTPS1: a membrane-bound transcription factor protease implicated in the pathogenesis of several skin and skeletal disorders
The MBTPS1 gene, which is located on chromosome 16q24, encodes the membrane-bound transcription factor protease site-1 (MB...
Functional & Integrative Genomics
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Exploring mutation carriers’ preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview study
Currently, new research projects aim to develop prognostic models that more accurately predict the age of onset and progre...
Human Genetics
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APM-Related gene signature model to predict prognosis and immunotherapy response in hepatocellular carcinoma
Hepatocellular carcinoma (HCC) is a primary liver malignancy with a dismal prognosis. This study established and validated...
Human Genetics
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PRP: pathogenic risk prediction for rare nonsynonymous single nucleotide variants
Reliable prediction of pathogenic variants plays a crucial role in personalized medicine, which aims to provide accurate d...
Human Genetics
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Expanding the phenotypic spectrum of : a recall-by-genotype study
Rare variants in prokineticin 2 pathway genes (PROK2; PROKR2), cause isolated hypogonadotropic hypogonadism (IHH) in human...
Human Genetics
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Integrating gene mutation spectra from tumors and the general population with gene expression topological networks to identify novel cancer driver genes
Discovering cancer driver genes is critical for improving survival rates. Current methods often overlook the varying funct...
Human Genetics
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