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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...
The causal association between smoking, alcohol consumption and risk of upper urinary calculi: insights from a Mendelian randomization study
The causal association between smoking, alcohol consumption and risk of upper urinary calculi: insights from a Mendelian randomization study
Background: The causal link between smoking, alcohol consumption, and upper urinary calculi remains uncertain in observati...
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...
Integration of transcriptomic, proteomic, and metabolomic data to identify lncRNA rPvt1 associations in lipopolysaccharide-treated H9C2 cardiomyocytes
Integration of transcriptomic, proteomic, and metabolomic data to identify lncRNA rPvt1 associations in lipopolysaccharide-treated H9C2 cardiomyocytes
Background: Recent evidence has shown that the long non-coding RNA (lncRNA) rPvt1 is elevated in septic myocardial tissues...
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...
Prenatal genetic diagnosis associated with fetal ventricular septal defect: an assessment based on chromosomal microarray analysis and exome sequencing
Prenatal genetic diagnosis associated with fetal ventricular septal defect: an assessment based on chromosomal microarray analysis and exome sequencing
Objective: In the study, we investigated the genetic etiology of the ventricular septal defect (VSD) and comprehensively e...
Assessment of the progression of kidney renal clear cell carcinoma using transcriptional profiles revealed new cancer subtypes with variable prognosis
Assessment of the progression of kidney renal clear cell carcinoma using transcriptional profiles revealed new cancer subtypes with variable prognosis
Background: Kidney renal clear cell carcinoma is the most prevalent subtype of renal cell carcinoma encompassing a heterog...
Machine learning identified MDK score has prognostic value for idiopathic pulmonary fibrosis based on integrated bulk and single cell expression data
Machine learning identified MDK score has prognostic value for idiopathic pulmonary fibrosis based on integrated bulk and single cell expression data
Idiopathic pulmonary fibrosis (IPF) is a progressive and fatal lung disease that poses a significant challenge to medical ...
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...
Hypothesis: The opposing pulling forces exerted by spindle microtubules can cause sliding of chromatin layers and facilitate sister chromatid resolution
Hypothesis: The opposing pulling forces exerted by spindle microtubules can cause sliding of chromatin layers and facilitate sister chromatid resolution
Previous studies indicated that mitotic chromosome structure consists of many stacked layers formed by a mononucleosome sh...
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...
Characterization of the microRNA408-LACCASE5 module as a regulatory axis for photosynthetic efficiency in Medicago ruthenica: implications for forage yield enhancement
Characterization of the microRNA408-LACCASE5 module as a regulatory axis for photosynthetic efficiency in Medicago ruthenica: implications for forage yield enhancement
Medicago ruthenica is closely related to Medicago sativa, a commonly cultivated forage. Characterized by its high toleranc...
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...
Genome-wide identification and characterization of tissue specific long non-coding RNAs and circular RNAs in common carp (Cyprinus carpio L.)
Genome-wide identification and characterization of tissue specific long non-coding RNAs and circular RNAs in common carp (Cyprinus carpio L.)
Cyprinus carpio is regarded as a substitute vertebrate fish model for zebrafish. A varied category of non-coding RNAs is c...
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...
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