Browse Items (10 total)
- Tags: Heterozygote
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease
Tags: 2019, Adult, Antonellis Anthony, Baras Aris, Biochemistry & Molecular Biology, Brigatti Karlla W, Carson Vincent J, Catalytic Domain, Child, Demczko Matthew M, Female, Fox Michael D, Furuya Katryn N, gene, Genetic Diseases, Genetic Predisposition to Disease, Genetics & Heredity, Gonzaga-Jauregui Claudia, Griffin Laurie B, Hearing Loss, Heterozygote, Homozygote, Human molecular genetics, Humans, impairment, Inborn, Infant, Jinks Robert N, Kandula Vinay V R, lactic-acidosis, Loss of Function Mutation, Male, Martinez Erick D, mechanisms, Miles Lili, Mutation, myopathy, NEOMED College of Medicine Student, NEOMED Student Publications, Newborn, onset, Overton John D, Pedigree, Phenotype, phenotypic variability, Poskitt Laura, Preschool, Puffenberger Erik G, Radhakrishnan Kadakkal, recessive mutations, Reid Jeffrey G, Sensorineural, September 2019 Update, Severity of Illness Index, Strauss Kevin A, swiss-model, Tyrosine-tRNA Ligase, variant, Wenger Olivia K, Whole Exome Sequencing, Williams Katie B, Yeasts, Yoder Mark A
Growth hormone injections improve bone quality in a mouse model of osteogenesis imperfecta.
Tags: 2005, Animal, Animals, Askew Michael J, Biomechanical Phenomena, Body Weight/drug effects, Bone and Bones/drug effects, Bone/prevention & control, Collagen Type I, Collagen/genetics, Densitometry, Department of Family & Community Medicine, Disease Models, Femur/drug effects/pathology, Fractures, Growth Hormone/*therapeutic use, Heterozygote, Humans, Inbred C57BL, Jarjoura David, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, King Donna, Lumbar Vertebrae/drug effects, McEwen Heather A, Mice, Mutation, NEOMED College of Medicine, Osteoblasts/*drug effects/metabolism, Osteogenesis Imperfecta/*drug therapy, Phenotype, Time Factors, Transgenic
Analyzing the most frequent disease loci in targeted patient categories optimizes disease gene identification and test accuracy worldwide.
Tags: *Genetic Loci, *Genetic Predisposition to Disease, 2015, Adult, Child, Chromosomes, Disease/*genetics, European Continental Ancestry Group, Female, Genes, Genetic Testing/*methods, Genetics, Heterozygote, Human/genetics, Humans, Infant, Journal of translational medicine, Lebo Roger V, Newborn, Population, Pregnancy, Prenatal Diagnosis, Rare Diseases/genetics, Recessive, Tonk Vijay S
Inactivation of one copy of the mouse neurotrophin-3 gene induces cardiac sympathetic deficits.
Tags: *Gene Dosage, 2000, Aging/metabolism, Animals, Axons/metabolism, Body Weight/genetics, Cell Count, Coronary Vessels/innervation, DiCarlo S E, Dluzen D E, Heart Rate/genetics, Heart/*innervation, Heterozygote, Homozygote, In Situ Nick-End Labeling, Knockout, Kucera J, Maron M B, Mice, Muscle Tonus/genetics, Mutant Strains, Myocardium/cytology/*metabolism, Neurotrophin 3/deficiency/*genetics, Norepinephrine/metabolism, Organ Size/genetics, Physiological genomics, Rodenbaugh D W, Stellate Ganglion/cytology, Story G M, Sympathetic Nervous System/cytology/*growth & development/metabolism, Tyrosine 3-Monooxygenase/metabolism, Walro J M
Effects of growth hormone transgene expression on vertebrae in a mouse model of osteogenesis imperfecta.
Tags: 2005, Animal, Animals, Beamer Wesley G, Biomechanical Phenomena, Bone Density, Chase Jeff, Department of Family & Community Medicine, Disease Models, Female, Gene Expression, Genetic Therapy/*methods, Havey Robert M, Heterozygote, Human Growth Hormone/*genetics, Humans, Inbred C57BL, King Donna, Male, McEwen Heather A, Mice, NEOMED College of Medicine, Osteogenesis Imperfecta/pathology/physiopathology/*therapy, Patwardhan Avinash G, Sartori Mark, Spine, Spine/pathology/*physiology, Tail, Transgenic, Voronov Leonard
Age-related changes in nigrostriatal dopaminergic function in heterozygous mutant dopamine transporter knock-out mice.
Tags: 2010, 3, 4-Dihydroxyphenylacetic Acid/*metabolism, Aging/*physiology, Animals, Corpus Striatum/*metabolism, Dluzen Dean E, Dopamine Plasma Membrane Transport Proteins/*genetics, Dopamine/*metabolism, Heterozygote, Inbred C57BL, Ji Jing, Knockout, Male, McDermott Janet L, Mice, Motor Activity, Mutation, Neuroscience letters, Substantia Nigra/*metabolism
Exome sequence identified a c.320A \textgreater G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.
Tags: *Mutation, *X Chromosome Inactivation, 2017, ALG13, Bastaki Fatma, CDG Is, Child, Congenital disorder of glycosylation, Congenital Disorders of Glycosylation/diagnosis/*genetics, European journal of medical genetics, Exome, Female, Glycosylation, Hamici Sana, Heterozygote, Humans, Infant, Infantile/diagnosis/*genetics, Khalifa Mohamed, Mental Retardation, Missense, N-Acetylglucosaminyltransferases/*genetics, Post-Translational, Preschool, Protein Processing, Spasms, Syndrome, Transferrin/metabolism, X-inactivation, X-Linked/diagnosis/*genetics
Sex differences in striatal dopaminergic function within heterozygous mutant dopamine transporter knock-out mice.
Tags: *Sex Characteristics, 2008, 3, 4-Dihydroxyphenylacetic Acid/metabolism, Animals, Brain/drug effects/*metabolism, Corpus Striatum/drug effects/*metabolism, Dluzen Dean E, Dopamine Plasma Membrane Transport Proteins/*genetics, Dopamine Uptake Inhibitors/pharmacology, Dopamine/*metabolism, Down-Regulation/drug effects/genetics, Female, Gene Expression Regulation/drug effects/genetics, Heterozygote, Ji Jing, Journal of neural transmission (Vienna, Austria : 1996), Knockout, Male, Methamphetamine/pharmacology, Mice, Mutation/*genetics, Neural Pathways/drug effects/metabolism, Potassium Chloride/metabolism/pharmacology, Substantia Nigra/drug effects/metabolism, Synaptic Transmission/drug effects/genetics, Up-Regulation/drug effects/genetics
Evaluation of nigrostriatal dopaminergic function in adult +/+ and +/- BDNF mutant mice.
Tags: 2001, Anderson L I, Animals, Body Weight/genetics, Brain-Derived Neurotrophic Factor/*deficiency/genetics/*metabolism, Corpus Striatum/*metabolism, Dluzen D E, Dopamine/*metabolism, Experimental neurology, Gao X, Heterozygote, Homozygote, Hypothalamus/metabolism, Kucera J, Methamphetamine/pharmacology, Mice, Motor Activity/drug effects/physiology, Mutant Strains, Norepinephrine/metabolism, Olfactory Bulb/metabolism, Organ Specificity, Story G M, Substantia Nigra/*metabolism, Walking/physiology, Walro J M
Alterations in nigrostriatal dopaminergic function within BDNF mutant mice.
Tags: 1999, Animals, Brain-Derived Neurotrophic Factor/deficiency/genetics/*physiology, Corpus Striatum/*metabolism, Dluzen D E, Dopamine/*metabolism, Experimental neurology, Heterozygote, Hypothalamus/*metabolism, Knockout, Kucera J, Mice, Norepinephrine/metabolism, Olfactory Bulb/metabolism, Polymerase Chain Reaction, Reference Values, Story G M, Substantia Nigra/*metabolism, Walro J M, Xu K