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Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome
Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome
Cyclin-dependent kinase 9 (CDK9) phosphorylates the C-terminal domain of RNA polymerase II (RNAPII) to regulate transcript...
Evidence of maternal inheritance of Nizon-Isidor syndrome in an individual with GAMT and TNFRSF13B sequence variants
Evidence of maternal inheritance of Nizon-Isidor syndrome in an individual with GAMT and TNFRSF13B sequence variants
Nizon-Isidor syndrome (NIZIDS) is a rare neurodevelopmental disorder caused by heterozygous MED12L variants, where previou...
Meiotic determinants of unbalanced gametogenesis in chromosomal inversion carriers 
Meiotic determinants of unbalanced gametogenesis in chromosomal inversion carriers 
Preimplantation genetic testing for structural rearrangements (PGT-SR) has already been applied in inversion carriers. How...
The c.644 G > A p.(Trp215*) founder variant in the CLIC5 gene causes progressive autosomal recessive deafness 103 (DFNB103) in Eastern Siberia
The c.644 G > A p.(Trp215*) founder variant in the CLIC5 gene causes progressive autosomal recessive deafness 103 (DFNB103) in Eastern Siberia
Previously only two families were known with progressive autosomal recessive deafness 103 (DFNB103, OMIM616042) caused by ...
LEO1 haploinsufficiency is associated with developmental delays and autism spectrum disorder
LEO1 encodes a core subunit of the evolutionarily conserved RNA polymerase associated factor 1 complex (PAF1C), a key regu...
Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencing
Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencing
Chromosomal insertions are a type of structural abnormality. While individuals with balanced insertions are typically asym...
Perinatal outcomes of fetal CNVs detected by genome-wide non-invasive prenatal testing in Japan
Perinatal outcomes of fetal CNVs detected by genome-wide non-invasive prenatal testing in Japan
Non-invasive prenatal testing (NIPT) enables the screening of fetal chromosomal abnormalities by analyzing cell-free DNA (...
Biosynthesis of GPI anchored proteins, its deficiencies and treatment
Biosynthesis of GPI anchored proteins, its deficiencies and treatment
Glycosylphosphatidylinositol (GPI) anchoring is a widely conserved post-translational modification in eukaryotes, in which...
Direction and modality of transcription changes caused by TAD boundary disruption in Slc29a3/Unc5b locus depends on tissue-specific epigenetic context
Direction and modality of transcription changes caused by TAD boundary disruption in Slc29a3/Unc5b locus depends on tissue-specific epigenetic context
Topologically associating domains (TADs) are believed to play a role in the regulation of gene expression by constraining ...
The epigenetic circle: feedback loops in the maintenance of cellular memory
The epigenetic circle: feedback loops in the maintenance of cellular memory
The memory of gene expression states, active or repressive, is a fundamental biological concept as it controls cell fate i...
The isoflavone genistein selectively stimulates major satellite repeat transcription in mouse heterochromatin
The isoflavone genistein selectively stimulates major satellite repeat transcription in mouse heterochromatin
Mouse heterochromatin is characterized by A/T-rich, 234 bp DNA repeat arrays, called major satellite repeats (MSR...
Comparison of current methods for genome-wide DNA methylation profiling
Comparison of current methods for genome-wide DNA methylation profiling
DNA methylation is an epigenetic mechanism involved in gene regulation and cellular differentiation. Accurate and comprehe...
Structural DNMT-nucleosome contacts are related to DNA methylation patterns
Structural DNMT-nucleosome contacts are related to DNA methylation patterns
DNA-methylation is a key epigenetic mark in chromatin that attenuates chromatin accessibility during transcription, implyi...
Genetic and clinical features of hereditary transthyretin amyloidosis: a decade of experience at a Japanese referral center
Genetic and clinical features of hereditary transthyretin amyloidosis: a decade of experience at a Japanese referral center
Hereditary transthyretin (ATTRv) amyloidosis is a rare, intractable genetic disorder caused by mutations in the transthyre...
DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation
DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation
Primary ciliary dyskinesia (PCD; MIM 244400) is a genetic disorder, and its morbidity has been previously underestimated. ...
Measurement of fatigue in sickle cell disease: a systematic review of fatigue measures
Measurement of fatigue in sickle cell disease: a systematic review of fatigue measures
Sickle cell disease (SCD) is a chronic inherited blood disorder caused by abnormal haemoglobin production, affecting over ...
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...
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