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Mediation role of DNA methylation in association between handgrip strength and cognitive function in monozygotic twins
Mediation role of DNA methylation in association between handgrip strength and cognitive function in monozygotic twins
Handgrip strength is a crucial indicator to monitor the change of cognitive function over time, but its mechanism still ne...
Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases
Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases
Distal Xq28 duplication, or int22h1/int22h2-mediated Xq28 duplication syndrome, leads to cognitive impairment, neurobehavi...
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7
Biallelic TOE1 variants can cause pontocerebellar hypoplasia type 7 (PCH7), a condition characterized by pontocerebellar h...
Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant
Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant
We herein report a case with a novel homozygous variant in the kyphoscoliosis peptidase (KY) gene. A 58-year-old Japanese ...
Heritability of complex traits in sub-populations experiencing bottlenecks and growth
Heritability of complex traits in sub-populations experiencing bottlenecks and growth
Populations that have experienced a bottleneck are regularly used in Genome Wide Association Studies (GWAS) to investigate...
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review
Spondylocostal dysostosis (SCDO) encompasses a group of skeletal disorders characterized by multiple segmentation defects ...
Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which...
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study
Our study aimed to investigate the association between the transition of the TXNIP gene methylation level and the risk of ...
A mediation analysis framework based on variance component to remove genetic confounding effect
A mediation analysis framework based on variance component to remove genetic confounding effect
Identification of pleiotropy at the single nucleotide polymorphism (SNP) level provides valuable insights into shared gene...
Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies
Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies
Intellectual disabilities (ID) and autism spectrum disorders (ASD) have a variety of etiologies, including environmental a...
Correction: The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population
Author notesThese authors contributed equally: Masashi Idogawa, Tasuku Mariya.Authors and AffiliationsDepartment of Medica...
Correction: The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease
Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanTadashi Inoue, Keiko Uchida, Kazuki Kodo, Masaya...
New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder
New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder
Biallelic pathogenic variants in MADD lead to a very rare neurodevelopmental disorder which is phenotypically pleiotropic ...
A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases
A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases
Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially in anterior segment dysgenesis (ASD), hav...
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder
Rare heterozygous variants in exons 33-34 of the SRCAP gene are associated with Floating-Harbor syndrome and have a domina...
Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk
A previous study of 200,000 exome-sequenced UK Biobank participants investigating the association between rare coding vari...
Correction: Genetic association and functional validation of ZFP36L2 in non-syndromic orofacial cleft subtypes
Author notesThese authors contributed equally: Jialin Sun, Mujia Li.Authors and AffiliationsState Key Laboratory of Oral D...
Potential drug targets for gastroesophageal reflux disease and Barrett’s esophagus identified through Mendelian randomization analysis
Potential drug targets for gastroesophageal reflux disease and Barrett’s esophagus identified through Mendelian randomization analysis
Gastroesophageal reflux disease (GERD) is a prevalent chronic ailment, and present therapeutic approaches are not always e...
Dyssegmental dysplasia Rolland–Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients
Dyssegmental dysplasia Rolland–Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients
Dyssegmental dysplasia (DD) is a severe skeletal dysplasia comprised of two subtypes: lethal Silverman–Handmaker typ...
Advances in AI and machine learning for predictive medicine
Advances in AI and machine learning for predictive medicine
The field of omics, driven by advances in high-throughput sequencing, faces a data explosion. This abundance of data offer...
The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population
Hereditary breast and ovarian cancer syndrome (HBOC) resulting from pathogenic variants of BRCA1 or BRCA2 is the most comm...
Identifying the genetic associations among the psoriasis patients in eastern India
Identifying the genetic associations among the psoriasis patients in eastern India
Psoriasis is a multifactorial genetic disorder manifested by hyperproliferation and abnormal differentiation of epidermal ...
The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease
The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease
Although the molecular mechanisms underlying congenital heart disease (CHD) remain poorly understood, recent advances in g...
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene
Only five children with pathogenic PMPCB gene variants have been described and all carried missense variants. Clinical fea...
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review
CAPZA2 encodes the α2 subunit of CAPZA, which is vital for actin polymerization and depolymerization in humans. Howev...
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals
We report the cases of two Spanish pediatric patients with hypotonia, muscle weakness and feeding difficulties at birth. W...
CRISPR/Cas9-mediated knock-in cells of the late-onset Alzheimer’s disease-risk variant, SHARPIN G186R, reveal reduced NF-κB pathway and accelerated Aβ secretion
CRISPR/Cas9-mediated knock-in cells of the late-onset Alzheimer’s disease-risk variant, SHARPIN G186R, reveal reduced NF-κB pathway and accelerated Aβ secretion
Gatz M, Reynolds CA, Fratiglioni L, Johansson B, Mortimer JA, Berg S, et al. Role of genes and environments for explaining...
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population
Truncus Arteriosus (TA) is a congenital heart disease characterized by a single common blood vessel emerging from the righ...
A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms
A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms
Intellectual disability (ID) is associated with an increased risk of developing psychiatric disorders, suggesting a common...
Genetic association and functional validation of ZFP36L2 in non-syndromic orofacial cleft subtypes
Genetic association and functional validation of ZFP36L2 in non-syndromic orofacial cleft subtypes
Non-syndromic orofacial cleft (NSOC) is one of the most common craniofacial malformations with complex etiology. This stud...
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