Human Molecular Genetics

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

Biological Sciences / Brain / Mitochondrial DNA / Humans / Mice / Animals / Human Molecular Genetics / Genomic instability / Animals / Human Molecular Genetics / Genomic instability

Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene

Membrane Proteins / Biological Sciences / DNA / Humans / Autoimmune diseases / Human Molecular Genetics / Polymerase Chain Reaction / Monocytes / Quantitative Trait Loci / DNA binding proteins / Human Molecular Genetics / Polymerase Chain Reaction / Monocytes / Quantitative Trait Loci / DNA binding proteins

ALX4 dysfunction disrupts craniofacial and epidermal development

Transcription Factors / Biological Sciences / Humans / Child / Mutation / Male / Human Molecular Genetics / Infant / Epidermis / Facial Bones / DNA binding proteins / Craniofacial Dysostosis / Male / Human Molecular Genetics / Infant / Epidermis / Facial Bones / DNA binding proteins / Craniofacial Dysostosis

Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts

Biological Sciences / Human Molecular Genetics

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

Mass Spectrometry / Amyotrophic Lateral Sclerosis / Biological Sciences / Humans / Mice / Animals / Human Molecular Genetics / Proteins / Frontotemporal Dementia / Endosomes / Animals / Human Molecular Genetics / Proteins / Frontotemporal Dementia / Endosomes

Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts

Biological Sciences / Human Molecular Genetics

A Prader-Willi locus lncRNA cloud modulates diurnal genes and energy expenditure

Genomic Imprinting / Long Noncoding Rna / Energy Metabolism / Biological Sciences / Brain / Humans / Mice / Circadian Rhythm / Female / Animals / Male / Human Molecular Genetics / Sleep / Neurons / Prader-Willi Syndrome / Autopsy / Cryptochromes / Humans / Mice / Circadian Rhythm / Female / Animals / Male / Human Molecular Genetics / Sleep / Neurons / Prader-Willi Syndrome / Autopsy / Cryptochromes

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

Biological Sciences / Brain / Mitochondrial DNA / Humans / Mice / Animals / Human Molecular Genetics / Genomic instability / Animals / Human Molecular Genetics / Genomic instability

Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type

Biological Sciences / Brain / Humans / Liver / Mice / Female / Animals / Human Molecular Genetics / Thiourea / Female / Animals / Human Molecular Genetics / Thiourea

Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation

Calcium / Mitochondria / Biological Sciences / Mice / Animals / Human Molecular Genetics / Endoplasmic Reticulum / Human Fibroblasts / Human Molecular Genetics / Endoplasmic Reticulum / Human Fibroblasts

ALX4 dysfunction disrupts craniofacial and epidermal development

Web Design / Web Technologies / Web Development / Transcription Factors / Biological Sciences / Web / Humans / Child / Mutation / Male / Human Molecular Genetics / Infant / Epidermis / WEB DEVELOPMENT / Facial Bones / DNA binding proteins / E Commerce / Craniofacial Dysostosis / Web / Humans / Child / Mutation / Male / Human Molecular Genetics / Infant / Epidermis / WEB DEVELOPMENT / Facial Bones / DNA binding proteins / E Commerce / Craniofacial Dysostosis

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

Mass Spectrometry / Amyotrophic Lateral Sclerosis / Biological Sciences / Humans / Mice / Animals / Human Molecular Genetics / Proteins / Frontotemporal Dementia / Endosomes / Animals / Human Molecular Genetics / Proteins / Frontotemporal Dementia / Endosomes

A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes

Biological Sciences / Humans / Male / Human Molecular Genetics / Polymerase Chain Reaction / Human Genome / Genomic Library / X chromosome / Human Genome / Genomic Library / X chromosome

GSH monoethyl ester rescues mitochondrial defects in cystic fibrosis models

Genetics / Cystic Fibrosis / Mitochondria / Biological Sciences / Cell line / Models / Mutation / Mice / Animals / Male / Human Molecular Genetics / Glutathione / Membrane transport proteins / Interleukin / Models / Mutation / Mice / Animals / Male / Human Molecular Genetics / Glutathione / Membrane transport proteins / Interleukin

QRX, a novel homeobox gene, modulates photoreceptor gene expression

Transcription Factors / Gene expression / Transgenic Mice / Biological Sciences / Humans / Sequence alignment / Animals / Human Molecular Genetics / Retinal Degeneration / Transcription Factor / Physical Interaction / Cattle / Human Genome / DNA binding / Amino Acid Sequence / Retinal Diseases / Protein Binding / DNA binding proteins / DNA-footprinting / Rhodopsin / Response Elements / Gene Expression Regulation / Sequence alignment / Animals / Human Molecular Genetics / Retinal Degeneration / Transcription Factor / Physical Interaction / Cattle / Human Genome / DNA binding / Amino Acid Sequence / Retinal Diseases / Protein Binding / DNA binding proteins / DNA-footprinting / Rhodopsin / Response Elements / Gene Expression Regulation

Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene

Membrane Proteins / Biological Sciences / DNA / Humans / Autoimmune diseases / Human Molecular Genetics / Polymerase Chain Reaction / Monocytes / Quantitative Trait Loci / DNA binding proteins / Human Molecular Genetics / Polymerase Chain Reaction / Monocytes / Quantitative Trait Loci / DNA binding proteins

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