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Expanding the spectrum of HSPB8-related myopathy: a novel mutation causing atypical pediatric-onset axial and limb-girdle involvement with autophagy abnormalities and molecular dynamics studies
Expanding the spectrum of HSPB8-related myopathy: a novel mutation causing atypical pediatric-onset axial and limb-girdle involvement with autophagy abnormalities and molecular dynamics studies
Variants in HSPB8 are predominantly associated with peripheral neuropathies, but their occurrence in myopathies remains ex...
Novel variants in DNAH9 are present in two infertile patients with severe asthenospermia
Novel variants in DNAH9 are present in two infertile patients with severe asthenospermia
Asthenospermia is a type of sperm that has malformed sperm with movement disorders that lead to male infertility. DNAH9 is...
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome
FAM111A (family with sequence similarity 111 member A) is a serine protease and removes covalent DNA-protein cross-links d...
First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view
First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view
Hypomyelinating leukodystrophy-5 (HLD5) is a rare autosomal recessive hypomyelination disorder characterized by congenital...
Young Scientist Award 2024
JHG Young Scientist Award recognizes articles by young researchers that have made significant contrib...
Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings
Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings
Biallelic loss of function variants in ESAM (endothelial cell adhesion molecule) have recently been reported in 14 individ...
Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome
Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome
FBXW7 (F-box and WD-repeat domain-containing 7) is a tumor suppressor gene, and its germline variants have been causally l...
Biallelic missense CEP55 variants cause prenatal MARCH syndrome
Biallelic missense CEP55 variants cause prenatal MARCH syndrome
CEP55 encodes centrosomal protein 55 kDa, which plays a crucial role in mitosis, particularly cytokinesis. Biallelic...
Genetic analysis of a Yayoi individual from the Doigahama site provides insights into the origins of immigrants to the Japanese Archipelago
Genetic analysis of a Yayoi individual from the Doigahama site provides insights into the origins of immigrants to the Japanese Archipelago
Mainland Japanese have been recognized as having dual ancestry, originating from indigenous Jomon people and immigrants fr...
Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese population
Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese population
Serotonin-transporter-linked polymorphic region (5-HTTLPR), a variable number of tandem repeats in the promoter region of ...
Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Ja...
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation
TXNDC15 encodes thioredoxin domain-containing protein 15, a protein disulfide isomerase that plays a role in ciliogenesis....
Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy
Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy
We surveyed the status of the secondary finding (SF) disclosure in comprehensive genome profiling (CGP) in 2020. The situa...
Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history
Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history
Mutations in IBA57 disrupt iron-sulfur clusters maturation, causing a rare mitochondrial disease. Clinical manifestations ...
Investigating common mutations in ATP7B gene and the prevalence of Wilson’s disease in the Thai population using population-based genome-wide datasets
Wilson’s disease (WD) is a rare metabolic disorder caused by variations in the ATP7B gene. It usually manifests hepa...
Artificial intelligence in medical genomics
Artificial intelligence (AI) and machine learning (ML) are rapidly growing and becoming essential res...
A novel homozygous nonsense variant of STX2 underlies non-obstructive azoospermia in a consanguineous Chinese family
A novel homozygous nonsense variant of STX2 underlies non-obstructive azoospermia in a consanguineous Chinese family
Male infertility is a widespread population health concern, causing various degrees of adverse fertility outcomes. We dete...
Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants
Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants
Hydrops fetalis, characterized by abnormal fluid accumulation in fetuses, presents a significant risk of stillbirth and ne...
Healthy lifestyle practice correlates with decreased obesity prevalence in individuals with high polygenic risk: TMM CommCohort study
Healthy lifestyle practice correlates with decreased obesity prevalence in individuals with high polygenic risk: TMM CommCohort study
Obesity and overweight, fundamental components of the metabolic syndrome, predispose individuals to lifestyle-related dise...
A 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and Korea
A 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and Korea
Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by ciliary structural abnormalities and dysfunction, ...
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases
In June 2024, the Japanese government introduced a new genomic strategic action to shorten the “diagnostic odyssey&#...
The genetic architecture of age at menarche and its causal effects on other traits
The genetic architecture of age at menarche and its causal effects on other traits
Age at menarche (AAM) is a sign of puberty of females. It is a heritable trait associated with various adult diseases. How...
Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures
Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures
Reciprocal chromosomal translocation is one of genomic variations. When cytogenetically de novo reciprocal translocations ...
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield
Lissencephaly is a rare brain malformation characterized by abnormal neuronal migration during cortical development. In th...
An application supporting diagnosis for rare genetic diseases – UR-DBMS and Syndrome Finder –
An application supporting diagnosis for rare genetic diseases – UR-DBMS and Syndrome Finder –
“UR-DBMS (Unified Records-Database for Medical Syndromes, formerly known as University of the Ryukyus-Database for Malform...
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia
VLDLR cerebellar hypoplasia is characterized by intellectual disability, non-progressive cerebellar ataxia, and seizures. ...
Genome analysis through image processing with deep learning models
Genome analysis through image processing with deep learning models
Genomic sequences are traditionally represented as strings of characters: A (adenine), C (cytosine), G (guanine), and T (t...
Efficient HLA imputation from sequential SNPs data by transformer
Efficient HLA imputation from sequential SNPs data by transformer
Human leukocyte antigen (HLA) genes are associated with a variety of diseases, yet the direct typing of HLA alleles is bot...
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by various combinations of autonomic failure, ...
INTS11-related neurodevelopmental disorder: a case report and literature review
INTS11-related neurodevelopmental disorder: a case report and literature review
INTS11 is a critical catalytic component of the Integrator complex that regulates RNA polymerase II termination and modula...
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