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Masquerading as lymphoma: the accelerated phase of Chediak–Higashi syndrome and its novel mutation
Masquerading as lymphoma: the accelerated phase of Chediak–Higashi syndrome and its novel mutation
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder. The clinical presentation may be fatal if these pat...
Identification of variants from gene expression data of opioid-addicted patients
Identification of variants from gene expression data of opioid-addicted patients
NGS (next-generation sequencing) has become a rapid advance in discovering the variants in the genomic data for disease di...
Screening and investigating the regulatory mechanisms of oxidative stress-related biomarkers in thoracic aortic aneurysms
Screening and investigating the regulatory mechanisms of oxidative stress-related biomarkers in thoracic aortic aneurysms
Excess reactive oxygen species leading to oxidative stress has been identified as a significant factor in cardiovascular d...
Genotype by environment interaction for productive and reproductive traits in beef cattle using imputed whole genome sequence
Genotype by environment interaction for productive and reproductive traits in beef cattle using imputed whole genome sequence
Accounting for genotype by environment interaction (GxE) and using genomic information may enhance the prediction accuracy...
MiR-1976 affects lung squamous cell carcinoma development by targeting NCAPH
MiR-1976 affects lung squamous cell carcinoma development by targeting NCAPH
Lung squamous cell carcinoma (LUSC) is one of the major subtypes of lung cancer. Non-SMC condensin I complex subunit H (NC...
Different mRNAs encoding identical proteins: how and why?
Different mRNAs encoding identical proteins: how and why?
Alternative splicing (AS) produces various forms of mRNAs and protein isoforms and contributes to biodiversity. However, d...
Are head and neck versus abdominal paragangliomas driven by different single nucleotide events?
Are head and neck versus abdominal paragangliomas driven by different single nucleotide events?
Paragangliomas (PGLs) are a heterogeneous group of tumours of the nonepithelial neuroendocrine type, with a significant pe...
Identification of colorectal cancer molecular subtypes and prognostic features based on basement membrane-related genes
Identification of colorectal cancer molecular subtypes and prognostic features based on basement membrane-related genes
Recent evidence suggests that the basement membrane (BM) plays an important role in the progression of colorectal cancer (...
Genetic background of Richter transformation of atypical chronic lymphocytic leukemia to diffuse large B-cell lymphoma - a case study
Genetic background of Richter transformation of atypical chronic lymphocytic leukemia to diffuse large B-cell lymphoma - a case study
Atypical chronic lymphocytic leukemia (aCLL) is an indolent lymphoproliferative neoplasm derived from CD19-positive and CD...
Genome-wide association study uncovers the genetic loci for yield-related traits in waxy rice
Genome-wide association study uncovers the genetic loci for yield-related traits in waxy rice
Improving yield potential is a critical goal for breeders; however, yield-related loci are still less understood in waxy r...
An updated molecular toolkit for genomics-assisted breeding of waxy sorghum [ (L.) Moench]
An updated molecular toolkit for genomics-assisted breeding of waxy sorghum [ (L.) Moench]
Several mutations of the sorghum [Sorghum bicolor (L.) Moench] GRANULE-BOUND STARCH SYNTHASE (GBSS) gene [Sobic.010G022600...
Prevalence of intronic repeat expansions in the gene in Polish patients with cerebellar syndrome
Prevalence of intronic repeat expansions in the gene in Polish patients with cerebellar syndrome
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited neurodegenerative ...
NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss
NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss
The etiology of hearing loss (HL) is heterogeneous. It is estimated that 50–60% of the cases have a genetic backgrou...
Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene
Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene
Senataxin, an RNA/DNA helicase, is a key protein providing genome stability and one of the best characterized R-loop-bindi...
Bringing our genomes to medicine – the 2026 human genome meeting
Bringing our genomes to medicine – the 2026 human genome meeting
Bringing our genomes to medicine – the 2026 hum...
Variants of NLRP genes encoding subcortical maternal complex components are linked to biparental placental mesenchymal dysplasia
Variants of NLRP genes encoding subcortical maternal complex components are linked to biparental placental mesenchymal dysplasia
Placental mesenchymal dysplasia (PMD) is a placental abnormality resembling partial hydatidiform moles without trophoblast...
Increasing pathogenic germline variant diagnosis rates in precision medicine: current best practices and future opportunities
Increasing pathogenic germline variant diagnosis rates in precision medicine: current best practices and future opportunities
The accurate diagnosis of pathogenic variants is essential for effective clinical decision making within precision medicin...
Clinical and prognostic significance of m6A hypomethylation and IGF2BP3 overexpression in gastric cancer: an integrated epigenomic-transcriptomic analysis
Clinical and prognostic significance of m6A hypomethylation and IGF2BP3 overexpression in gastric cancer: an integrated epigenomic-transcriptomic analysis
Gastric cancer (GC) ranks as the fifth most prevalent malignancy and the third leading cause of cancer-related mortality w...
Flu-CNN: identifying host specificity of Influenza A virus using convolutional networks
Flu-CNN: identifying host specificity of Influenza A virus using convolutional networks
Influenza A viruses (IAVs) have historically posed significant public health threats, causing severe pandemics. Viral host...
Chromatin organization and behavior in -transformed mouse fibroblasts
Chromatin organization and behavior in -transformed mouse fibroblasts
In higher eukaryotic cells, a string of nucleosomes, where long genomic DNA is wrapped around core histones, are rather ir...
Interspecific cytogenomic comparison reveals a potential chromosomal centromeric marker in frog species
Interspecific cytogenomic comparison reveals a potential chromosomal centromeric marker in frog species
Among the repetitive elements, satellite DNA (SatDNA) emerges as extensive arrays of highly similar tandemly repeated unit...
Novel centromeric repetitive DNA elements reveal karyotype dynamics in polyploid sainfoin ()
Novel centromeric repetitive DNA elements reveal karyotype dynamics in polyploid sainfoin ()
Polyploidy is a common feature in eukaryotes with one of paramount consequences leading to better environmental adaptation...
Genome location, evolution and centromeric contribution of satellite DNAs shared between the two closely related species ( group, cluster)
Genome location, evolution and centromeric contribution of satellite DNAs shared between the two closely related species ( group, cluster)
Satellite DNAs are highly repetitive, tandemly arranged sequences, typically making up large portions (> 20%)...
Towards identification of a holocentromere marker in the lepidopteran model
Towards identification of a holocentromere marker in the lepidopteran model
Some insects have holocentric chromosomes, with multiple kinetochores rather than a single centromere. They also lack the ...
Tetraploidy in normal tissues and diseases: mechanisms and consequences
Tetraploidy in normal tissues and diseases: mechanisms and consequences
Tetraploidisation plays a crucial role in evolution, development, stress adaptation, and disease, but its beneficial or pa...
Regulatory effects of lncRNA PVT1 on transcriptome in human breast cancer MDA-MB-231 cell line determined by in silico analyses
Regulatory effects of lncRNA PVT1 on transcriptome in human breast cancer MDA-MB-231 cell line determined by in silico analyses
Overexpression or knockdown of a specific gene is usually helpful in understanding its underlying molecular mechanism. PVT...
RAD18 promotes cell malignant behaviors of esophageal squamous cell carcinoma by modulating ATM/STAT3/PD-L1
RAD18 promotes cell malignant behaviors of esophageal squamous cell carcinoma by modulating ATM/STAT3/PD-L1
Esophageal cancer (EC) is still a difficult problem in medicine, depriving many patients of their lives every year. RAD18 ...
A tribute to 40 years of CENP-A & centromere pioneer Bill Earnshaw
A tribute to 40 years of CENP-A & centromere pioneer Bill Earnshaw
Bergmann JH, Rodríguez MG, Martins NMC, Kimura H, Kelly DA, Masumoto H, Larionov V, Jansen LET, Earnshaw WC (2011) Epigene...
A tribute to ,
A tribute to ,
Chromosoma, now in its 86th year, remains as respected a journal as it ever was. Yet,...
Homozygous deletion of the DPY19L2 gene as a major genetic cause of globozoospermia: a case report from Senegal
Homozygous deletion of the DPY19L2 gene as a major genetic cause of globozoospermia: a case report from Senegal
Globozoospermia is a rare but serious teratozoospermia, characterised by ejaculates consisting of entirely of round-headed...
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