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Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus
Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus
Tinnitus is the phantom percept of an internal non-verbal set of noises and tones. It is reported by 15% of the population...
Brain single cell transcriptomic profiles in episodic memory phenotypes associated with temporal lobe epilepsy
Brain single cell transcriptomic profiles in episodic memory phenotypes associated with temporal lobe epilepsy
Memory dysfunction is prevalent in temporal lobe epilepsy (TLE), but little is known about the underlying molecular etiolo...
SMAD6-deficiency in human genetic disorders
SMAD6-deficiency in human genetic disorders
SMAD6 encodes an intracellular inhibitor of the bone morphogenetic protein (BMP) signalling pathway. Until now, SMAD6-defi...
Medicine and health of 21st Century: Not just a high biotech-driven solution
Medicine and health of 21st Century: Not just a high biotech-driven solution
Many biotechnological innovations have shaped the contemporary healthcare system (CHS) with significant progress to treat ...
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA
Pathogenic variants in the OPN1LW/OPN1MW gene cluster are causal for a range of mild to severe visual impairments with col...
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
We developed a diagnostic method for repeat expansion diseases using a long-read sequencer to improve currently available,...
Direct cell-to-cell transfer in stressed tumor microenvironment aggravates tumorigenic or metastatic potential in pancreatic cancer
Direct cell-to-cell transfer in stressed tumor microenvironment aggravates tumorigenic or metastatic potential in pancreatic cancer
Pancreatic cancer exhibits a characteristic tumor microenvironment (TME) due to enhanced fibrosis and hypoxia and is parti...
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome
Hoyeraal-Hreidarsson syndrome (HHS) is the most severe form of dyskeratosis congenita (DC) and is caused by mutations in g...
Identification of phenocopies improves prediction of targeted therapy response over DNA mutations alone
Identification of phenocopies improves prediction of targeted therapy response over DNA mutations alone
DNA mutations in specific genes can confer preferential benefit from drugs targeting those genes. However, other molecular...
Clinical variant interpretation and biologically relevant reference transcripts
Clinical variant interpretation and biologically relevant reference transcripts
Clinical variant interpretation is highly dependent on the choice of reference transcript. Although the longest transcript...
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
The aim of this study was to investigate coenzyme Q10 (CoQ10) biosynthesis pathway defects in inherited retinal dystrophy....
Co-design, implementation, and evaluation of plain language genomic test reports
Co-design, implementation, and evaluation of plain language genomic test reports
Understanding and communicating genomic results can be challenging for families and health professionals without genetic s...
Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis
Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis
Copy number (CN) polymorphisms of complement C4 play distinct roles in many conditions, including immune-mediated diseases...
Alternative ANKHD1 transcript promotes proliferation and inhibits migration in uterine corpus endometrial carcinoma
Alternative ANKHD1 transcript promotes proliferation and inhibits migration in uterine corpus endometrial carcinoma
Alternative splicing (AS) is common in gene expression, and abnormal splicing often results in several cancers. Overall su...
Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets
Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets
The early detection of tissue and organ damage associated with autoimmune diseases (AID) has been identified as key to imp...
Integrating rapid exome sequencing into NICU clinical care after a pilot research study
Integrating rapid exome sequencing into NICU clinical care after a pilot research study
Genomic sequencing is a powerful diagnostic tool in critically ill infants, but performing exome or genome sequencing (ES/...
Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1
Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1
Huntington’s disease is caused by an expanded CAG tract in HTT. The length of the CAG tract accounts for over half t...
A translational genomics approach identifies IL10RB as the top candidate gene target for COVID-19 susceptibility
A translational genomics approach identifies IL10RB as the top candidate gene target for COVID-19 susceptibility
Recent efforts have identified genetic loci that are associated with coronavirus disease 2019 (COVID-19) infection rates a...
Never-homozygous genetic variants in healthy populations are potential recessive disease candidates
Never-homozygous genetic variants in healthy populations are potential recessive disease candidates
The rapid pace with which genetic variants are now being determined means there is a pressing need to understand how they ...
Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer
Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer
DNA germline genetic testing can identify individuals with cancer susceptibility. However, DNA sequencing alone is limited...
Ano5 modulates calcium signaling during bone homeostasis in gnathodiaphyseal dysplasia
Ano5 modulates calcium signaling during bone homeostasis in gnathodiaphyseal dysplasia
ANO5 encodes transmembrane protein 16E (TMEM16E), an intracellular calcium-activated chloride channel in the endoplasmic r...
Synaptosome microRNAs regulate synapse functions in Alzheimer’s disease
Synaptosome microRNAs regulate synapse functions in Alzheimer’s disease
MicroRNAs (miRNAs) are found in nerve terminals, synaptic vesicles, and synaptosomes, but it is unclear whether synaptic a...
Transcriptomic effects of propranolol and primidone converge on molecular pathways relevant to essential tremor
Transcriptomic effects of propranolol and primidone converge on molecular pathways relevant to essential tremor
Essential tremor (ET) is one of the most common movement disorders, affecting nearly 5% of individuals over 65 years old. ...
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders
The magnitude of clinical utility of preconception expanded carrier screening (ECS) concerning its potential to reduce the...
Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape
Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape
Morquio B disease (MBD) is an ultra-rare lysosomal storage disease, which represents the relatively mild form of GLB1-asso...
A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia
A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia
Adiponectin, encoded by ADIPOQ, is an insulin-sensitizing, anti-inflammatory, and renoprotective adipokine that activates ...
Multifocal organoids reveal clonal associations between synchronous intestinal tumors with pervasive heterogeneous drug responses
Multifocal organoids reveal clonal associations between synchronous intestinal tumors with pervasive heterogeneous drug responses
Multifocal colorectal cancer (CRC) comprises both clonally independent primary tumors caused by inherited predisposition a...
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy characterized by extensive inter- and intra-familia...
PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan
PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan
Autosomal Dominant polycystic kidney disease (ADPKD) is the most common inherited adult kidney disease. Although ADPKD is ...