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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...
Lomitapide response in a cohort of patients with homozygous familial hypercholesterolemia and the potential influence of MTTP gene variants
Lomitapide response in a cohort of patients with homozygous familial hypercholesterolemia and the potential influence of MTTP gene variants
Homozygous familial hypercholesterolemia (HoFH) is a rare inherited disorder of lipoprotein metabolism caused by pathogeni...
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...
Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia
Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia
Initial Whole Exome Sequencing frequently fails to resolve rare disease cases. Bioinformatic reanalysis of existing genomi...
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...
Variable organization of repeats and hidden diversity of XY sex chromosomes in Pentatomidae true Bugs (Hemiptera) revealed through comparative genomic hybridization
Variable organization of repeats and hidden diversity of XY sex chromosomes in Pentatomidae true Bugs (Hemiptera) revealed through comparative genomic hybridization
Sex chromosomes have independently evolved in various species, displaying unique evolutionary patterns, including differen...
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...
Genetic signatures of exceptional longevity: a comprehensive analysis of coding region single nucleotide polymorphisms (SNPs) in centenarians and supercentenarians
Genetic signatures of exceptional longevity: a comprehensive analysis of coding region single nucleotide polymorphisms (SNPs) in centenarians and supercentenarians
Aging, a complex biological process, entails sequential changes in organisms that elevate the risk of frailty, disease, an...
Recurrent acute liver failure and neutropenia caused by a novel homozygous RINT1 variant: a brief report of phenotypic expansion and population-specific findings
Recurrent acute liver failure and neutropenia caused by a novel homozygous RINT1 variant: a brief report of phenotypic expansion and population-specific findings
Recurrent acute liver failure (RALF) is a rare and life-threatening disorder often triggered by infections or febrile epis...
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...
In silico analysis of non-synonymous single nucleotide polymorphisms of human ABCD1 gene associated with adrenoleukodystrophy
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...
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 ...
Integrated multi-omics analysis and machine learning refine molecular subtypes and prognosis in hepatocellular carcinoma through O-linked glycosylation genes
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...
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 ...
CircNOX4 promotes proliferation and resistance by regulating the hsa-miR-6884-5p/YWHAG Axis and ERK signaling pathway in cholangiocarcinoma
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...
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, ...
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