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PloS one, ISSN 1932-6203, 2012, Volume 7, Issue 1, p. e28936
The Clinic for Special Children (CSC) has integrated biochemical and molecular methods into a rural pediatric practice serving Old Order Amish and Mennonite... 
DOMAIN | POSTERIOR COLUMN ATAXIA | INTERACTING PROTEIN | MULTIDISCIPLINARY SCIENCES | C-MYC | SNIP1 | DEATH | TRANSFER-RNA | MUTATIONS | IDENTIFICATION | DISCOVERY | Seizures - genetics | Microtubule-Associated Proteins - genetics | CRADD Signaling Adaptor Protein | Humans | Child, Preschool | Infant | Amino Acyl-tRNA Synthetases | Receptors, Virus - genetics | Intellectual Disability - genetics | Amish - genetics | Ethnic Groups - genetics | Usher Syndromes - genetics | Membrane Transport Proteins - genetics | Chromosome Mapping - methods | Epilepsy - genetics | Parkinsonian Disorders - genetics | Nuclear Proteins - genetics | Child | Intracellular Signaling Peptides and Proteins - genetics | Infant, Newborn | Genetic Predisposition to Disease - genetics | Genetic Association Studies - methods | Dopamine Plasma Membrane Transport Proteins - genetics | Exome - genetics | Polymorphism, Single Nucleotide | Sequence Analysis, DNA - methods | Genetic aspects | Nucleotide sequencing | Single nucleotide polymorphisms | DNA sequencing | Haplotypes | Neurosciences | Disease | Genes | Business improvement districts | Mapping | Biology | Single-nucleotide polymorphism | Gene polymorphism | Population genetics | Gene sequencing | Coupling (molecular) | Databases | Enterprise zones | Lists | Children | Pathogens | Nuclear electric power generation | Pathogenicity | Medicine | Hospitals | DNA microarrays | Genotyping | Mutation | Gene mapping | Polymorphism
Journal Article
Journal of Dental Research, ISSN 0022-0345, 9/2014, Volume 93, Issue 9, pp. 882 - 890
..., osteoporosis, and vitamin D deficiency (Genco and Borgnakke, 2013). The investigation of genetic factors in CP has been based on early twin and family studies (Michalowicz... 
genomics | genetics | bacteria | pathway analysis | inflammation | periodontal disease | PATHWAYS | POPULATION | SUSCEPTIBILITY | ADULTS | RECEPTOR | ATHEROSCLEROSIS RISK | CIRCADIAN CLOCK | DENTISTRY, ORAL SURGERY & MEDICINE | DISEASE | HEALTH | Prospective Studies | Tumor Necrosis Factor Decoy Receptors - genetics | Microtubule-Associated Proteins - genetics | Cytoskeletal Proteins - genetics | Atherosclerosis - genetics | Humans | Middle Aged | Apoptosis - genetics | Male | Monoacylglycerol Lipases - genetics | Receptors, Peptide - genetics | Receptors, Tumor Necrosis Factor, Member 10c | ras GTPase-Activating Proteins - genetics | Chronic Periodontitis - microbiology | Chronic Periodontitis - genetics | Adult | Female | Atherosclerosis - microbiology | Adaptor Protein Complex beta Subunits - genetics | Nuclear Proteins - genetics | Porphyromonas gingivalis - genetics | Genome-Wide Association Study | Genetic Association Studies | Membrane Proteins - genetics | Risk Factors | Linkage Disequilibrium - genetics | Potassium Channels, Tandem Pore Domain - genetics | Chromosome Mapping | Membrane Glycoproteins - genetics | Aggregatibacter actinomycetemcomitans - genetics | Adaptor Protein Complex 3 - genetics | Polymorphism, Single Nucleotide - genetics | Aged | Receptors, G-Protein-Coupled - genetics | Mucins - genetics | Cohort Studies | GPI-Linked Proteins - genetics | Research Reports
Journal Article
PLoS genetics, ISSN 1553-7390, 06/2017, Volume 13, Issue 6, p. e1006832
.... Using a reverse-genetic approach, we identified the Arabidopsis thaliana leucine-rich repeat receptor kinase MIK2 as an important regulator of cell wall damage responses triggered upon cellulose biosynthesis inhibition... 
Journal Article | ORGANIZATION | CORTICAL MICROTUBULES | FERONIA | MUTANT | PROTEIN | BIOSYNTHESIS | GENES | GENETICS & HEREDITY | RESISTANCE | HELICAL GROWTH | CELLULOSE SYNTHASE COMPLEXES | Arabidopsis Proteins - genetics | Protein Kinases - genetics | Arabidopsis - drug effects | Stress, Physiological - genetics | Cell Wall - genetics | Plant Roots - genetics | Plant Diseases - microbiology | Sodium Chloride - toxicity | Plant Roots - drug effects | Arabidopsis - genetics | Cellulose - biosynthesis | Oxylipins - metabolism | Gene Expression Regulation, Plant - drug effects | Cell Wall - drug effects | Lignin - biosynthesis | Arabidopsis Proteins - biosynthesis | Cyclopentanes - metabolism | Plant Diseases - genetics | Stress, Physiological - drug effects | Protein Kinases - biosynthesis | Disease Resistance - genetics | Fusarium - pathogenicity | Receptors, Cell Surface - genetics | Arabidopsis thaliana | Physiological aspects | Genetic aspects | Gene expression | Observations | Phosphotransferases | Plant cell walls | Lignin | Research parks | Laboratories | Genomics | Cellulose | Biosynthesis | Leucine | Kinases | Salinity tolerance | Cell adhesion & migration | Fungi | Fusarium | Life sciences | Charitable foundations | Jasmonic acid | Plates | Stresses | Cues | Pathogens | Plants (botany) | Fusarium oxysporum | Cell walls | Abiotic stress | Grants | Acid production | College campuses | Immunological tolerance | Alleles | Molecular biology | Detection | Integrity | Life Sciences | Vegetal Biology | Engineering Sciences | Food engineering | Chemical and Process Engineering
Journal Article
Journal Article
Science (American Association for the Advancement of Science), ISSN 1095-9203, 2001, Volume 294, Issue 5550, pp. 2364 - 2368
In Saccharomyces cerevisiae, more than 80% of the ∼6200 predicted genes are nonessential, implying that the genome is buffered from the phenotypic consequences of genetic perturbation... 
Yeasts | Microbial genetics | Cell growth | Diploidy | Molecular genetics | Cell walls | DNA | Actins | Reports | Genetic mutation | Genetic screening | MORPHOGENESIS | SCREEN | BUDDING YEAST | SYNTHETIC LETHAL | MULTIDISCIPLINARY SCIENCES | ACTIN CYTOSKELETON | MUTATIONS | SACCHAROMYCES-CEREVISIAE | Cytoskeletal Proteins | Cell Polarity | Mitosis | Saccharomyces cerevisiae - genetics | Microtubule Proteins - physiology | Databases, Genetic | Endodeoxyribonucleases - physiology | Robotics | DNA, Fungal - biosynthesis | Genome, Fungal | RecQ Helicases | Recombination, Genetic | Gene Deletion | Cell Cycle Proteins - genetics | Microtubule Proteins - genetics | DNA Helicases - genetics | Genes, Fungal - physiology | Carrier Proteins - physiology | Saccharomyces cerevisiae - physiology | Computational Biology | Fungal Proteins - genetics | Genetic Markers | Saccharomyces cerevisiae Proteins - genetics | Genetic Techniques | Genes, Essential | Carrier Proteins - genetics | Endodeoxyribonucleases - genetics | Fungal Proteins - physiology | Microfilament Proteins | DNA Repair | Flap Endonucleases | Cytoskeleton - physiology | Saccharomyces cerevisiae Proteins - physiology | Cell Cycle Proteins - physiology | Saccharomyces cerevisiae - growth & development | Crosses, Genetic | DNA Helicases - physiology | Yeast | Gene mutations | Analysis | Genetic research | Genetic aspects | Research | Genetics | Mutation
Journal Article
Nature neuroscience, ISSN 1546-1726, 2010, Volume 13, Issue 5, pp. 551 - 558
Brain structure and size require precise division of neural stem cells (NSCs), which self-renew and generate intermediate neural progenitors (INPs) and... 
HUMAN-CHROMOSOMES | PROTEIN | LIS1 EXPRESSION | LISSENCEPHALY GENE | SECKEL-SYNDROME | NASHI | SPINDLE ORIENTATION | NEUROGENESIS | NEUROSCIENCES | MESSENGER-RNA LOCALIZATION | CEREBRAL CORTICAL SIZE | Brain - embryology | Microcephaly - genetics | Embryo, Mammalian | Homeodomain Proteins - metabolism | Humans | Apoptosis - genetics | Green Fluorescent Proteins - genetics | RNA, Messenger - metabolism | Neurogenesis - genetics | DNA Mutational Analysis | Organ Size - genetics | Repressor Proteins - metabolism | Animals, Newborn | Oligonucleotide Array Sequence Analysis - methods | Repressor Proteins - genetics | Genotype | Mice, Transgenic | In Situ Nick-End Labeling - methods | Mutation - genetics | T-Box Domain Proteins - metabolism | Eye Proteins - metabolism | Brain - pathology | Mice | HeLa Cells | Paired Box Transcription Factors - genetics | Neurons - pathology | Age Factors | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Gene Expression Regulation, Developmental - genetics | Brain - growth & development | Cell Differentiation - genetics | 1-Alkyl-2-acetylglycerophosphocholine Esterase - genetics | Transfection | Microcephaly - pathology | Microcephaly - physiopathology | Bromodeoxyuridine - metabolism | Eye Proteins - genetics | Nuclear Proteins - genetics | RNA Interference - physiology | Cell Division - genetics | Mice, Inbred C57BL | Gene Expression Profiling - methods | Nuclear Proteins - metabolism | PAX6 Transcription Factor | Nerve Tissue Proteins - genetics | T-Box Domain Proteins - genetics | Homeodomain Proteins - genetics | Nerve Tissue Proteins - metabolism | 1-Alkyl-2-acetylglycerophosphocholine Esterase - metabolism | Animals | Stem Cells - physiology | Paired Box Transcription Factors - metabolism | Animal experimentation | Axons | Usage | Brain research | Cell division | Physiological aspects | Causes of | Research | Microcephaly | Mental retardation | Risk factors
Journal Article
American journal of physiology. Lung cellular and molecular physiology, ISSN 1522-1504, 2015, Volume 308, Issue 1, pp. L33 - L47
Mutation of threonine for isoleucine at codon 73 (I73T) in the human surfactant protein C (hSP-C) gene ( SFTPC) accounts for a significant portion of SFTPC... 
Surfactant protein | Pulmonary fibrosis | Alveolar epithelium | Autophagy | Amphisome | alveolar epithelium | autophagy | amphisome | surfactant protein | pulmonary fibrosis | DOMAIN | PHYSIOLOGY | SURFACTANT PROTEIN-C | FUSION | AGGRESOME FORMATION | ENDOPLASMIC-RETICULUM STRESS | MULTIVESICULAR BODIES | RESPIRATORY SYSTEM | MUTATION | DEGRADATION | PULMONARY-FIBROSIS | Proteostasis Deficiencies - metabolism | Lung Diseases, Interstitial - metabolism | Vacuoles - ultrastructure | Lung Diseases, Interstitial - pathology | Microtubule-Associated Proteins - genetics | Sequestosome-1 Protein | Humans | Lysosomes - genetics | Genetic Diseases, Inborn - genetics | Infant | rab GTP-Binding Proteins - genetics | Genetic Diseases, Inborn - pathology | Mutation, Missense | Mitochondria - ultrastructure | Lysosomes - metabolism | ATP-Binding Cassette Transporters - genetics | Mitochondria - genetics | HEK293 Cells | ATP-Binding Cassette Transporters - metabolism | Membrane Potential, Mitochondrial - genetics | Female | Genetic Diseases, Inborn - metabolism | Microfilament Proteins - genetics | Vacuoles - genetics | Gene Expression Regulation - genetics | Proteostasis Deficiencies - pathology | Pulmonary Surfactant-Associated Protein C - metabolism | Mitochondria - metabolism | Microtubule-Associated Proteins - biosynthesis | rab GTP-Binding Proteins - biosynthesis | Ubiquitin-Protein Ligases - biosynthesis | Lysosomes - ultrastructure | Autophagy-Related Protein 8 Family | Proteostasis Deficiencies - genetics | Microfilament Proteins - biosynthesis | Lung Diseases, Interstitial - genetics | Adaptor Proteins, Signal Transducing - genetics | Pulmonary Surfactant-Associated Protein C - genetics | Vacuoles - metabolism | Adaptor Proteins, Signal Transducing - biosynthesis | Ubiquitin-Protein Ligases - genetics | Amino Acid Substitution | Autophagy (Cytology) | Usage | Genetic aspects | Epithelium | Health aspects | Lung diseases | Call for Papers
Journal Article
Molecular cell, ISSN 1097-2765, 2011, Volume 44, Issue 4, pp. 660 - 666
How pseudouridylation (Ψ), the most common and evolutionarily conserved modification of rRNA, regulates ribosome activity is poorly understood. Medically, Ψ is... 
PROTEIN | ENTRY SITE | INITIATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | IN-VIVO | DYSKERATOSIS-CONGENITA | MEDIATED TRANSLATION | COMPONENT | INHIBITORS | MUTATIONS | EXPRESSION | CELL BIOLOGY | Protein Biosynthesis | Hydro-Lyases - deficiency | Microcephaly - genetics | Microtubule-Associated Proteins - genetics | Saccharomyces cerevisiae - genetics | Humans | Ribonucleoproteins, Small Nuclear - genetics | Ribosomes - metabolism | Fetal Growth Retardation - genetics | Microcephaly - enzymology | Dyskeratosis Congenita - genetics | RNA, Ribosomal - genetics | Intellectual Disability - genetics | Nuclear Proteins - deficiency | Cell Cycle Proteins - genetics | Intellectual Disability - enzymology | RNA, Transfer - genetics | Hydro-Lyases - metabolism | Hydro-Lyases - genetics | Microtubule-Associated Proteins - deficiency | Nuclear Proteins - genetics | RNA, Transfer - chemistry | Binding Sites | Fetal Growth Retardation - enzymology | Genes, Reporter | Transduction, Genetic | Luciferases - analysis | RNA, Transfer - metabolism | RNA, Ribosomal - chemistry | Ribosomes - chemistry | RNA, Ribosomal - metabolism | Ribonucleoproteins, Small Nuclear - deficiency | Cell Cycle Proteins - deficiency | Saccharomyces cerevisiae Proteins - genetics | Dyskeratosis Congenita - enzymology | Sequence Homology, Amino Acid | Animals | Plasmids | Saccharomyces cerevisiae - enzymology | Mice | Mutation | Cricket | Chemical properties | Paralysis | Molecular genetics | Cells | Transfer RNA | Dyskeratosis | Fidelity | RNA modification | Internal ribosome entry site | Translation | tRNA | rRNA | Ribosomes | X chromosome | pseudouridylation | Evolution
Journal Article