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Autism spectrum disorder (ASD) is a common neurodevelopmental condition, and infant siblings of children with ASD are at a higher risk of developing autistic traits or an ASD diagnosis, when compared to those with typically...

Autism spectrum disorder cerebellum familial risk infants magnetic resonance imaging-structural mother-infant interaction subcortex Autism spectrum disorder Brain Female Genetic Predisposition to Disease Humans Infant Magnetic Resonance Imaging Male Organ Size Prospective Studies risk Siblings Stereotyped Behavior

MRI coactivation Cortical thickness Function resting Aged Brain Female Hallucinations Humans Image Processing Computer-Assisted Magnetic Resonance Imaging Male Middle Aged Oxygen Parkinson Disease Regression Analysis

Maternal immune activation increases the risk of neurodevelopmental disorders. Elevated cytokines, such as interferon-γ (IFN-γ), in offspring's brains play a central role. IFN-γ activates an antiviral cellular state, limiting...

Humans Induced Pluripotent Stem Cells Interferon-gamma Neurodevelopmental Disorders Neurons Phenotype

BACKGROUND: Autism is a heterogeneous collection of disorders with a complex molecular underpinning. Evidence from postmortem brain studies have indicated that early prenatal development may be altered in autism. Induced...

autism Cortical differentiation Functional genomics Midbrain differentiation Neural precursors Neural progenitor cells Neurodevelopment Autistic Disorder Cell Differentiation Female Humans Induced Pluripotent Stem Cells Neurogenesis Neurons Pregnancy

Progressive myopathy is a major clinical feature of patients with mitochondrial DNA (mtDNA) disease. There is limited treatment available for these patients although exercise and other approaches to activate muscle stem cells...

Adult DNA Copy Number Variations DNA Mitochondrial Female Gene Deletion genetic variation Genotype Humans Male Middle Aged Mitochondria Mitochondrial Myopathies Muscle Fibers Skeletal Mutation NADH Dehydrogenase RNA Ribosomal 18S Real-Time Polymerase Chain Reaction satellite cells Skeletal Muscle

Understanding genetic factors that contribute to cannabis use disorder (CUD) is important, but to date, findings have been equivocal. Single-nucleotide polymorphisms (SNPs) in the cannabinoid receptor 1 gene (CNR1; rs1049353...

Addiction Cannabis CBD craving Endophenotype salience THC

The accurate diagnosis and clinical management of the growth restriction disorder Silver Russell Syndrome (SRS) has confounded researchers and clinicians for many years due to the myriad of genetic and epigenetic alterations...

Adipose Tissue Brown Adipose Tissue White Adult Animals Body Temperature Cyclin-Dependent Kinase Inhibitor p57 DNA-Binding Proteins Disease Models Animal Genomic Imprinting Humans Mice Mitochondria Mutation Phenotype Silver-Russell Syndrome Transcription Factors

Understanding genetic factors that contribute to cannabis use disorder (CUD) is important, but to date, findings have been equivocal. Single-nucleotide polymorphisms (SNPs) in the cannabinoid receptor 1 gene (CNR1; rs1049353...

Addiction Cannabis CBD craving Endophenotype salience THC

DNA Mitochondrial Deafness Hearing Loss Hearing Loss Sensorineural Humans Mitochondria Mutation

OBJECTIVE: To describe a patient with a multifocal demyelinating motor neuropathy with onset in childhood and a mutation in phosphatase and tensin homolog (PTEN), a tumor suppressor gene associated with inherited tumor...

Adult Genetic Predisposition to Disease Hamartoma Hereditary Central Nervous System Demyelinating Diseases Hereditary Sensory and Motor Neuropathy Humans Male Mutation PTEN Phosphohydrolase Exome Sequencing

OBJECTIVE: The aim of this work was to determine the prevalence and progression of epilepsy in adult patients with mitochondrial disease. METHODS: We prospectively recruited a cohort of 182 consecutive adult patients attending a...

Adolescent Adult Age of Onset DNA Mitochondrial Disease Progression Epilepsy Female Follow-Up Studies Humans Male Middle Aged Mitochondrial Diseases Mutation prevalence stroke Young Adult

Pathogenic mitochondrial tRNA (mt-tRNA) gene mutations represent a prominent cause of primary mitochondrial DNA (mtDNA)-related disease despite accounting for only 5%-10% of the mitochondrial genome.(1,2) Although some common...

Genetics 2 Aetiology 2.1 Biological and endogenous factors

Polymerase-γ (POLG) is a major human disease gene and may account for up to 25% of all mitochondrial diseases in the UK and in Italy. To date, >150 different pathogenic mutations have been described in POLG. Some mutations...

Adolescent Adult Age of Onset Alanine Child Cohort Studies DNA Mutational Analysis DNA Polymerase gamma DNA-Directed DNA Polymerase Diffuse Cerebral Sclerosis of Schilder Europe Family Health Female Genetic Predisposition to Disease Homozygote Humans Male Middle Aged Mitochondrial Diseases Muscle Skeletal Mutation Ophthalmoplegia Chronic Progressive External Statistics as Topic statistics Nonparametric Threonine Young Adult

BACKGROUND: Thymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear DNA and phosphorylates the pyrimidine nucleosides: thymidine and deoxycytidine. Autosomal recessive TK2 mutations cause a spectrum of...

Clinical genetics metabolic disorders muscle disease Neuromuscular disease Adolescent Adult Age of Onset Aged Child Child Preschool Female Genes Recessive Genetic Association Studies Genetic Predisposition to Disease Genetic Testing Humans Infant Infant Newborn Male Middle Aged Mitochondrial Proteins Muscle Skeletal Muscular Diseases Mutation Phenotype Retrospective Studies Survival Analysis Thymidine Kinase Young Adult

The evolution and global transmission of antimicrobial resistance have been well documented for Gram-negative bacteria and health care-associated epidemic pathogens, often emerging from regions with heavy antimicrobial use....

Bengal Bay CA-MRSA india St772 South Asia Staphylococcus aureus WGS Antimicrobial resistance genomic epidemiology Global Transmission Phenotyping phylodynamics Anti-Bacterial Agents Asia Community-Acquired Infections Drug Resistance Multiple Bacterial evolution Molecular Genome Bacterial Humans india Methicillin-Resistant Staphylococcus aureus Phylogeny Staphylococcal Infections Staphylococcus aureus

The evolution and global transmission of antimicrobial resistance have been well documented for Gram-negative bacteria and health care-associated epidemic pathogens, often emerging from regions with heavy antimicrobial use....

Staphylococcus aureus india Antimicrobial resistance Phenotyping South Asia phylodynamics CA-MRSA St772 WGS genomic epidemiology Global Transmission Bengal Bay