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A case report of spinocerebellar ataxia with TRPC3 gene mutation and review of literature
A case report of spinocerebellar ataxia with TRPC3 gene mutation and review of literature
Spinocerebellar ataxia type 41 (SCA41) is a rare autosomal dominant cerebellar ataxia caused by mutations in the transient...
Ectopic co-expression of canonical and LINE1 and THE1A-exonizing IL23R transcripts in sarcoid myopathy
Ectopic co-expression of canonical and LINE1 and THE1A-exonizing IL23R transcripts in sarcoid myopathy
Sarcoidosis is a heterogenous inflammatory disease with complex genetic susceptibilities. Multi-ethnic genome-wide associa...
Press release guide for genomic research and medicine: a framework co-developed with public contributors in Japan
Press release guide for genomic research and medicine: a framework co-developed with public contributors in Japan
Press releases on genomic research play an important role in Japan. Not only do journalists use them as major sources of n...
A new integrated genetic and transcriptomic approach for investigating DUX4 and DUX4C
A new integrated genetic and transcriptomic approach for investigating DUX4 and DUX4C
The double homeobox 4 gene (DUX4) and its centromeric paralogue, DUX4C, reside in the subtelomeric region of chromosome 4 ...
JHG Young Scientist Award 2025
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Meta-analyses of genome-wide association studies identify novel loci influencing Japanese white matter hyperintensities
Meta-analyses of genome-wide association studies identify novel loci influencing Japanese white matter hyperintensities
White matter hyperintensities (WMH) are common findings on brain magnetic resonance imaging (MRI) in older adults and are ...
A novel homozygous splicing variant in FRA10AC1: further delineation of the phenotype
A novel homozygous splicing variant in FRA10AC1: further delineation of the phenotype
Biallelic variants in FRA10AC1, encoding a component of the spliceosomal C complex that is crucial for functional mRNA pro...
Congenital diarrhea/enteropathy due to a novel biallelic PERCC1 variant – a case-based review and variant analysis
Congenital diarrhea/enteropathy due to a novel biallelic PERCC1 variant – a case-based review and variant analysis
Congenital diarrhea/enteropathy due to inherited biallelic defects in the newly discovered gene PERCC1 has been reported i...
Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician’s perspective
Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician’s perspective
Although whole-exome sequencing (WES) is now widely used to diagnose neonatal genetic diseases, the genetic causes in over...
ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing
ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing
Secondary findings (SF) are pathogenic or likely pathogenic variants in genes unrelated to the primary purpose of genetic ...
The impact of public insurance on RRSO for HBOC in Japan: a nationwide data study
The impact of public insurance on RRSO for HBOC in Japan: a nationwide data study
In Japan, risk management based on genetic disposition, such as risk-reducing surgery for hereditary breast and ovarian ca...
Bi-allelic KCTD19 variants associated with meiotic arrest and non-obstructive azoospermia in humans
Bi-allelic KCTD19 variants associated with meiotic arrest and non-obstructive azoospermia in humans
Non-obstructive azoospermia (NOA) represents the severe form of male infertility, affecting approximately 1% of men during...
Novel susceptibility gene SLC23A2 functions via PI3K-AKT-mTOR pathway in etiology of non-syndromic cleft palate
Novel susceptibility gene SLC23A2 functions via PI3K-AKT-mTOR pathway in etiology of non-syndromic cleft palate
The biological interactions between genetic and environmental modifiers play critical roles in the etiology of non-syndrom...
The prevalence of laterality defects in patients with congenital heart disease
The prevalence of laterality defects in patients with congenital heart disease
Congenital heart disease (CHD) affects approximately 1% of liveborn infants. Among primary ciliary dyskinesia (PCD) cases,...
Assessment of different promoters in lentiviral vectors for expression of the N-acetyl-galactosamine-6-sulfate sulfatase gene
Assessment of different promoters in lentiviral vectors for expression of the N-acetyl-galactosamine-6-sulfate sulfatase gene
Mucopolysaccharidosis IVA (MPS IVA) is caused by pathogenic variants in the GALNS gene encoding N-acetylgalactosamine-6-su...
Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family
Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family
Microcephaly-related global developmental delay (GDD) and intellectual disability (ID) are characterized by a broad spectr...
Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population
Carrier screening is important to people have a higher prevalence of severe recessive or X-linked genetic conditions. This...
Prediction of protein structure and AI
Prediction of protein structure and AI
AlphaFold, an artificial intelligence (AI)-based tool for predicting the 3D structure of proteins, is now widely recognize...
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations
IQSEC2 gene on chromosome Xq11.22 encodes a member of guanine nucleotide exchange factor (GEF) protein that is implicated ...
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling
Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive neurotransmitter disorder caused by pathog...
CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy
CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy
Missense mutations in the alpha-B crystallin gene (CRYAB) have been reported in desmin-related myopathies with or without ...
Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology
Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology
The imputation of unmeasured genotypes is essential in human genetic research, particularly in enhancing the power of geno...
A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene
A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene
Lipid storage myopathy (LSM) is a heterogeneous group of lipid metabolism disorders predominantly affecting skeletal muscl...
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability
The gene for ATP binding cassette subfamily A member 2 (ABCA2) is located at chromosome 9q34.3. Biallelic ABCA2 variants l...
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities
Ubiquitin-specific protease 8 (USP8) is a deubiquitinating enzyme involved in deubiquitinating the enhanced epidermal grow...
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C
Pontocerebellar hypoplasia (PCH) is a rare heterogeneous neurodegenerative disorder affecting the pons and cerebellum and ...
Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing
Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing
Many questions remain regarding the genetics of idiopathic generalized epilepsy (IGE), a subset of genetic generalized epi...
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
SLC5A6 encodes the sodium-dependent multivitamin transporter, a transmembrane protein that uptakes biotin, pantothenic aci...
JHG Young Scientist Award 2023
JHG Young Scientist Award recognizes articles by young researchers that have made significant contributio...
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance
Partial duplications of genes can be challenging to detect and interpret and, therefore, likely represent an underreported...
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