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Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping
Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping
Mutations in fibrillin-1 (FBN1) cause various clinical conditions, such as Marfan syndrome (MFS). However, the genotype...
Phenotype puzzle: the role of novel LMBRD1 gene variant in Cbl deficiency causing Dyskeratosis Congenita-like clinical manifestations
Phenotype puzzle: the role of novel LMBRD1 gene variant in Cbl deficiency causing Dyskeratosis Congenita-like clinical manifestations
Cobalamin (Cbl) metabolism deficiencies are a heterogeneous group (CblA, CblB, CblC, CblD, CblE, CblF, CblG) of autosomal ...
A novel missense pathogenic variants of TMEM53 in an Iranian family with craniotubular dysplasia, Ikegawa type
A novel missense pathogenic variants of TMEM53 in an Iranian family with craniotubular dysplasia, Ikegawa type
Craniotubular dysplasia, Ikegawa type (CTDI) is a rare autosomal recessive skeletal dysplasia characterized by hyperostosi...
Pathogenic variants in SHROOM3 associated with hemifacial microsomia
Pathogenic variants in SHROOM3 associated with hemifacial microsomia
Hemifacial microsomia (HFM) is a rare congenital disorder that affects facial symmetry, ear development, and other congeni...
Clinical and genetic spectrum of patients with IRF2BPL syndrome
Clinical and genetic spectrum of patients with IRF2BPL syndrome
Interferon regulatory factor 2 binding protein-like (IRF2BPL) is a single-exon gene that is ubiquitously expressed in vari...
Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan
Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan
Large-scale population cohort studies that collect genomic information are tasked with returning an assessment of genetic ...
Triple mosaic variants of PURA in a patient with multiple congenital anomalies
Triple mosaic variants of PURA in a patient with multiple congenital anomalies
In monogenic diseases, double mosaic variants of the same gene have rarely been identified. Here, we report the case of tr...
A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient
A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient
Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is a group of extremely rare autosomal recessive neurological d...
Genetic inhibition of nicotinamide N-methyltransferase and prevention of alcohol-associated fatty liver in humans
Genetic inhibition of nicotinamide N-methyltransferase and prevention of alcohol-associated fatty liver in humans
Recent studies of animal models reported Nicotinamide N-methyltransferase (NNMT) as a potential therapeutic target for pre...
Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings
Sex chromosome aneuploidies (SCA) such as Turner, Klinefelter, Jacobs, and Trisomy X syndromes are prevalent genetic disor...
Cancer and disease profiles for PTEN pathogenic variants in Japanese population
Cancer and disease profiles for PTEN pathogenic variants in Japanese population
A germline alteration in the PTEN gene causes a spectrum of disorders conceptualized as PTEN hamartoma tumor syndrome (PHT...
Intron retention caused by a canonical splicing variant in SSR4-related congenital disorder of glycosylation
Intron retention caused by a canonical splicing variant in SSR4-related congenital disorder of glycosylation
Congenital disorder of glycosylation type Iy (CDG-Iy) is an X-linked monogenic inherited disease caused by variants in the...
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites
In the human genome, CAG 3' splice sites (3'ss) are more than twice as frequent as TAG 3'ss. The greater abund...
Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China
Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China
In this study, we aimed to apply preimplantation genetic testing for monogenic disorders (PGT-M) based on mutated allele r...
Identification of biallelic intronic EPM2A mutations in a Lafora disease kindred
Identification of biallelic intronic EPM2A mutations in a Lafora disease kindred
Lafora disease (LD) is a severe autosomal recessive disease, which usually presents as seizure and myoclonus, followed by ...
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...
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