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Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant
Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant
Isolated mitochondrial respiratory chain Complex IV (Cytochrome c Oxidase or COX) deficiency is the second most frequent i...
Case report: Revealing the rare—a Brody Disease patient from Turkey expanding the phenotype
Case report: Revealing the rare—a Brody Disease patient from Turkey expanding the phenotype
Brody Disease is an exceptionally rare, autosomal recessive myopathy attributed to the pathogenic variants in the ATP2A1, ...
Advances in transposable elements: from mechanisms to applications in mammalian genomics
Advances in transposable elements: from mechanisms to applications in mammalian genomics
It has been 70 years since Barbara McClintock discovered transposable elements (TE), and the mechanistic studies and ...
Carrier frequency and incidence of alpha-mannosidosis: population database-based study—focus on the East Asian and Korean population
Carrier frequency and incidence of alpha-mannosidosis: population database-based study—focus on the East Asian and Korean population
Background: Alpha-mannosidosis caused by mutations in the MAN2B1 gene is a rare genetic disorder characterized by physical...
Editorial: Using physical & genomics markers for smart therapy via expert systems with computer learning
Editorial: Using physical & genomics markers for smart therapy via expert systems with computer learning
Cancer diagnosis, prognosis, and treatment stand as pivotal factors in enhancing patient outcomes. Recent advances in AI, ...
Editorial: Computational mechanism of genetic/evolutionary operator and optimizations in genomic data applications
Editorial: Computational mechanism of genetic/evolutionary operator and optimizations in genomic data applications
The exponential growth of genomic data, driven by advancements in high-throughput sequencing technologies, has precipitate...
Corrigendum: Genetic diversity, population structure, and selective signature of sheep in the northeastern Tarim Basin
Corrigendum: Genetic diversity, population structure, and selective signature of sheep in the northeastern Tarim Basin
Sheep were domesticated in the Fertile Crescent approximately 11,000 years ago to provide humans with meat, milk, skin, an...
Long non-coding RNAs and JAK/STAT signaling pathway regulation in colorectal cancer development
Long non-coding RNAs and JAK/STAT signaling pathway regulation in colorectal cancer development
Colorectal cancer (CRC) is one of the main fatal cancers. Cell signaling such as Janus kinase/signal transducer and activa...
QTL mapping for seedling and adult plant resistance to stripe and leaf rust in two winter wheat populations
QTL mapping for seedling and adult plant resistance to stripe and leaf rust in two winter wheat populations
The two recombinant inbred line (RIL) populations developed by crossing Almaly × Avocet S (206 RILs) and Almaly ×...
Improving predictive ability in sparse testing designs in soybean populations
Improving predictive ability in sparse testing designs in soybean populations
The availability of high-dimensional genomic data and advancements in genome-based prediction models (GP) have revolutioni...
Unveiling the common loci for six body measurement traits in Chinese Wenshan cattle
Unveiling the common loci for six body measurement traits in Chinese Wenshan cattle
Introduction: Body measurement traits are integral in cattle production, serving as pivotal criteria for breeding selectio...
In-depth exploration of the shared genetic signature and molecular mechanisms between end-stage renal disease and osteoporosis
In-depth exploration of the shared genetic signature and molecular mechanisms between end-stage renal disease and osteoporosis
Background: Osteoporosis (OS) and fractures are common in patients with end-stage renal disease (ESRD) and maintenance dia...
A pharmacogenetic study of perampanel: association between rare variants of glutamate receptor genes and outcomes
A pharmacogenetic study of perampanel: association between rare variants of glutamate receptor genes and outcomes
Introduction: The selection of antiseizure medication usually requires a trial-and-error process. Our goal is to investiga...
Histone ubiquitination-related gene CUL4B promotes lung adenocarcinoma progression and cisplatin resistance
Histone ubiquitination-related gene CUL4B promotes lung adenocarcinoma progression and cisplatin resistance
Background: The role of the histone ubiquitination-related gene in the cisplatin resistance of lung adenocarcinoma (LUAD) ...
Machine learning-based integrated identification of predictive combined diagnostic biomarkers for endometriosis
Machine learning-based integrated identification of predictive combined diagnostic biomarkers for endometriosis
Background: Endometriosis (EM) is a common gynecological condition in women of reproductive age, with diverse causes and a...
Molecular characterization of novel and rare DNA variants in patients with galactosemia
Molecular characterization of novel and rare DNA variants in patients with galactosemia
Introduction: Galactosemia is an inherited disorder caused by mutations in the three genes that encode enzymes implicated ...
Circulating cell-free nucleic acids of plasma in human aging, healthy aging and longevity: current state of knowledge
Circulating cell-free nucleic acids of plasma in human aging, healthy aging and longevity: current state of knowledge
Circulating cell-free nucleic acids (ccfNAs) of plasma are a remarkable source of genetic, epigenetic and transcriptomic m...
Deep computational phenotyping of genomic variants impacting the SET domain of KMT2C reveal molecular mechanisms for their dysfunction
Deep computational phenotyping of genomic variants impacting the SET domain of KMT2C reveal molecular mechanisms for their dysfunction
Introduction: Kleefstra Syndrome type 2 (KLEFS-2) is a genetic, neurodevelopmental disorder characterized by intellectual ...
Bridging the gap: returning genetic results to indigenous communities in Latin America
Bridging the gap: returning genetic results to indigenous communities in Latin America
In response to inequality in access to genomics research, efforts are underway to include underrepresented minorities, but...
Common variants in toll-like receptor family genes and risk of gastric cancer: a systematic review and meta-analysis
Common variants in toll-like receptor family genes and risk of gastric cancer: a systematic review and meta-analysis
Background: An increasing number of studies have suggested the relationship between single-nucleotide polymorphisms (SNPs)...
Personalized medicine in a community health system: the NorthShore experience
Personalized medicine in a community health system: the NorthShore experience
Genomic and personalized medicine implementation efforts have largely centered on specialty care in tertiary health system...
A conceptual analysis of public opinion regarding genome research in Japan
A conceptual analysis of public opinion regarding genome research in Japan
In the 20 years since the completion of the Human Genome Project, the gap between scientific development and public u...