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Feasibility of machine learning analysis for the identification of patients with possible primary ciliary dyskinesia
Feasibility of machine learning analysis for the identification of patients with possible primary ciliary dyskinesia
Significant diagnostic delays are common in primary ciliary dyskinesia (PCD), a rare disease that is significantly underdi...
Recent advances in mucopolysaccharidosis IVA treatment
Recent advances in mucopolysaccharidosis IVA treatment
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare lysosomal storage disorder caused by mutations in the GA...
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,...
A multicenter study reveals a novel pathogenic splice-site founder variant in OTOF
A multicenter study reveals a novel pathogenic splice-site founder variant in OTOF
Over 200 pathogenic variants in the OTOF gene encoding otoferlin are associated with sensorineural hearing loss (SNHL) and...
Identification of genetically-supported new drug targets for osteomyelitis based on druggable genomes
Identification of genetically-supported new drug targets for osteomyelitis based on druggable genomes
Limited drug treatment data are available for osteomyelitis (OM), an inflammatory bone condition secondary to infection. G...
Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients
Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients
Gitelman syndrome (GS) is a rare tubulopathy with clinical and genetic heterogeneity. This study aimed to investigate the ...
β-thalassemia due to de novo mutation IVS1-5(G > C) at HBB gene in three cases from West Bengal
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...
The clinicopathological and prognostic significances of CMTM6 and PD-L1 expression in breast cancer
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...
Expression levels of taste genes, TAS1R1, TAS1R2 and TAS1R3 among SARS-CoV-2 patients
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...
Case report: a novel heterozygous COL4A4 mutation causing autosomal dominant Alport syndrome
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 ...
Analysis of the AP2/ERF transcription factor family in  and its role in exogenous melatonin-mediated regulation of salt stress
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 ...
Multiplex CRISPR-Cas9 editing of chlorophyll biosynthesis genes in chickpea via protoplast and -mediated transformation
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 ...
Comparative transcriptome analysis reveals the function of  in alkanol synthesis in sugarcane
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, ...