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Identity-by-descent analysis of CMTX3 links three families through a common founder
Identity-by-descent analysis of CMTX3 links three families through a common founder
A large 78 kb insertion from chromosome 8q24.3 into Xq27.1 was identified as the cause of CMTX3 in three families of...
DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance
DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance
To describe a novel DNA2 variant contributing to defects in mtDNA maintenance and mtDNA depletion syndrome (MDS), and the ...
Genetics of autism spectrum disorders and future direction
Autism spectrum disorders (ASDs) have been increasing in prevalence. ASD is a complex human genetic disorder with high her...
Association of rare PPARGC1A variants with Parkinson’s disease risk
Association of rare PPARGC1A variants with Parkinson’s disease risk
Recent researches on Parkinson’s disease (PD) pathogenesis discovered the correlation between PD and peroxisome prol...
Molecular diagnose of a large hearing loss population from China by targeted genome sequencing
Molecular diagnose of a large hearing loss population from China by targeted genome sequencing
Hereditary hearing loss is genetically heterogeneous, with diverse clinical manifestations. Here we performed targeted gen...
Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1
Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1
Pierre-Robin sequence (PRS) is a rare, congenital defect presenting with micrognathia, glossoptosis, and airway obstructio...
Ubap1 knock-in mice reproduced the phenotype of SPG80
Ubap1 knock-in mice reproduced the phenotype of SPG80
SPG80 is a neurodegenerative disorder characterized by a pure type of juvenile-onset hereditary spastic paraplegia and is ...
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases
In genetic testing of Mendelian diseases, it is a bioinformatics challenge to effectively prioritize disease-causing candi...
Functional restoration of mouse Nf1 nonsense alleles in differentiated cultured neurons
Functional restoration of mouse Nf1 nonsense alleles in differentiated cultured neurons
Neurofibromatosis type 1 (NF1), one of the most common autosomal dominant genetic disorders, is caused by mutations in the...
A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia
A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia
Developmental brain malformations are rare but are increasingly reported features of BICD2-related disorders. Here, we rep...
Ovarian cancer risk of Chinese women with BRCA1/2 germline pathogenic variants
Ovarian cancer risk of Chinese women with BRCA1/2 germline pathogenic variants
Estimating the lifetime risk of ovarian cancer in Chinese women with BRCA1/2 germline pathogenic variants (PVs) is of grea...
Genetics of brain arteriovenous malformations and cerebral cavernous malformations
Genetics of brain arteriovenous malformations and cerebral cavernous malformations
Cerebrovascular malformations comprise abnormal development of cerebral vasculature. They can result in hemorrhagic stroke...
Molecular genetics of Parkinson’s disease: Contributions and global trends
Molecular genetics of Parkinson’s disease: Contributions and global trends
Parkinson’s disease (PD) is a neurodegenerative disorder primarily characterized by motor dysfunction. Aging is the ...
The genetic architecture of schizophrenia: review of large-scale genetic studies
The genetic architecture of schizophrenia: review of large-scale genetic studies
Schizophrenia is a complex and often chronic psychiatric disorder with high heritability. Diagnosis of schizophrenia is st...
Correction: Comparison of two families with and without ataxia harboring novel variants in PRKCG
Department of Molecular Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 K...
Mortality and morbidity of infants with trisomy 21, weighing 1500 grams or less, in Japan
Mortality and morbidity of infants with trisomy 21, weighing 1500 grams or less, in Japan
Although very low birth weight (VLBW) is well studied in neonatology and the perinatal prognosis of VLBW infants has impro...
Comparison of two families with and without ataxia harboring novel variants in PRKCG
Comparison of two families with and without ataxia harboring novel variants in PRKCG
Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant SCA caused by variants of the PRKCG encoding protein kinas...
A novel homozygous missense mutation in the FASTKD2 gene leads to Lennox-Gastaut syndrome
A novel homozygous missense mutation in the FASTKD2 gene leads to Lennox-Gastaut syndrome
FASTKD2 encodes an RNA-binding protein, which is a key post-transcriptional regulator of mitochondrial gene expression. Mu...
Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot
Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot
Although several genes involved in the development of Tetralogy of Fallot have been identified, no genetic diagnosis is av...
Patterns and distribution of de novo mutations in multiplex Middle Eastern families
Patterns and distribution of de novo mutations in multiplex Middle Eastern families
While de novo mutations (DNMs) are key to genetic diversity, they are also responsible for a high number of rare disorders...
A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient
A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient
Heterotaxy syndrome is a very rare congenital disease, which is caused by the disorder of left-right asymmetry during visc...
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy
Amyotrophic lateral sclerosis (ALS) is an intractable disease that causes respiratory failure leading to mortality. The ma...
CDiP technology for reverse engineering of sporadic Alzheimer’s disease
CDiP technology for reverse engineering of sporadic Alzheimer’s disease
Alzheimer’s disease (AD) is a neurodegenerative disease that causes cognitive impairment for which neither treatable...
Genetics of Alzheimer’s disease: an East Asian perspective
Genetics of Alzheimer’s disease: an East Asian perspective
Alzheimer’s disease (AD) is an age-related multifactorial neurodegenerative disorder. Advances in genome technology,...
A review of major causative genes in congenital myopathies
A review of major causative genes in congenital myopathies
In this review, we focus on congenital myopathies, which are a genetically heterogeneous group of hereditary muscle diseas...
Genetics of bipolar disorder: insights into its complex architecture and biology from common and rare variants
Genetics of bipolar disorder: insights into its complex architecture and biology from common and rare variants
Bipolar disorder (BD) is a common mental disorder characterized by recurrent mood episodes, which causes major socioeconom...