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1. Full Text Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management
by Bocquet, Beatrice and Lacroux, Annie and Surget, Marie-Odile and Baudoin, Corinne and Marquette, Virginie and Manes, Gael and Hebrard, Maxime and Sénéchal, Audrey and Delettre, Cecile and Roux, Anne-Francoise and Claustres, Mireille and Dhaenens, Claire-Marie and Rozet, Jean-Michel and Perrault, Isabelle and Bonnefont, Jean-Paul and Kaplan, Josseline and Dollfus, Helene and Amati-Bonneau, Patrizia and Bonneau, Dominique and Reynier, Pascal and Audo, Isabelle and Zeitz, Christina and Sahel, José Alain and Paquis-Flucklinger, Veronique and Calvas, Patrick and Arveiler, Benoit and Kohl, Suzanne and Wissinger, Bernd and Blanchet, Catherine and Meunier, Isabelle and Hamel, Christian P
Ophthalmic epidemiology, ISSN 0928-6586, 2/2013, Volume 20, Issue 1, pp. 13 - 25
Inherited retinal dystrophies | macular dystrophy | pigmentary retinopathy | inherited optic neuropathies | molecular diagnosis | Molecular diagnosis | Pigmentary retinopathy | Inherited optic neuropathies | Macular dystrophy | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Humans | Middle Aged | Optic Nerve Diseases - diagnosis | Child, Preschool | Eye Diseases, Hereditary - diagnosis | Infant | Male | Young Adult | Molecular Diagnostic Techniques | ATP-Binding Cassette Transporters - genetics | DNA Mutational Analysis | Intermediate Filament Proteins - genetics | Polymerase Chain Reaction | Aged, 80 and over | Adult | Female | Eye Proteins - genetics | Child | Peripherins | France - epidemiology | Extracellular Matrix Proteins - genetics | Myosins - genetics | Nerve Tissue Proteins - genetics | Optic Nerve Diseases - genetics | Eye Diseases, Hereditary - genetics | Membrane Glycoproteins - genetics | Retinal Dystrophies - diagnosis | Retinal Dystrophies - epidemiology | Myosin VIIa | Adolescent | Aged | Mutation | Eye Diseases, Hereditary - epidemiology | Optic Nerve Diseases - epidemiology | Retinal Dystrophies - genetics | Index Medicus | Membrane Glycoproteins/genetics | Retinal Dystrophies/genetics | France/epidemiology | Optic Nerve Diseases/genetics | Extracellular Matrix Proteins/genetics | Eye Proteins/genetics | Life Sciences | Intermediate Filament Proteins/genetics | Optic Nerve Diseases/diagnosis | Optic Nerve Diseases/epidemiology | Myosins/genetics | Retinal Dystrophies/diagnosis | Eye Diseases, Hereditary/genetics | Nerve Tissue Proteins/genetics | ATP-Binding Cassette Transporters/genetics | Retinal Dystrophies/epidemiology | Eye Diseases, Hereditary/epidemiology | Eye Diseases, Hereditary/diagnosis
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2. Full Text MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis
by Ahuja, Tejinder S and Berns, Jeffrey S and Nelson, George W and Kimmel, Paul L and Winkler, Cheryl A and Johnson, Randall C and Freedman, Barry I and Kajiyama, Hiroshi and Vlahov, David and Trachtman, Howard and Smith, Michael W and McKenzie, Louise M and Cho, Monique E and Dart, Richard A and Briggs, William and Kopp, Jeffrey B and Korbet, Stephen M and Bowden, Donald W and Michel, Donna M and Mokrzycki, Michele H and Simon, Eric and Oleksyk, Taras and Schelling, Jeffrey R
Nature genetics, ISSN 1061-4036, 10/2008, Volume 40, Issue 10, pp. 1175 - 1184
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Glomerulonephritis | Nephropathies. Renovascular diseases. Renal failure | Nephrology. Urinary tract diseases | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease - genetics | Glomerulosclerosis, Focal Segmental - genetics | Humans | Middle Aged | Risk Factors | African Americans - genetics | Myosin Heavy Chains - genetics | Male | Chromosome Mapping | DNA Primers - chemistry | Molecular Motor Proteins - genetics | Case-Control Studies | Lod Score | AIDS-Associated Nephropathy - genetics | Chromosomes, Human, Pair 22 - genetics | Haplotypes - genetics | Polymorphism, Single Nucleotide - genetics | Adult | Female | Hypertension - genetics | Genome, Human | Glomerulosclerosis, Focal Segmental - pathology | Genetic Linkage | Chromosome mapping | Demographic aspects | Genetic variation | African Americans | Genetic aspects | Research | Health aspects | Methods | Risk factors | Medical research | Genetics | Genes | Cancer | Index Medicus
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3. Full Text Genetics of familial forms of thrombocytopenia
by Balduini, Carlo L and Savoia, Anna
Human genetics, ISSN 0340-6717, 12/2012, Volume 131, Issue 12, pp. 1821 - 1832
Gene Function | Human Genetics | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Contractile Proteins - genetics | Humans | Gray Platelet Syndrome - genetics | Integrins - genetics | Myosin Heavy Chains - genetics | Platelet Membrane Glycoproteins - genetics | Chromosomes, Human, Pair 11 - genetics | Molecular Motor Proteins - genetics | Wiskott-Aldrich Syndrome - genetics | Thrombocytopenia - blood | Filamins | Jacobsen Distal 11q Deletion Syndrome - genetics | Thrombocytopenia - genetics | Ankyrin Repeat - genetics | ATP-Binding Cassette Transporters - genetics | Bernard-Soulier Syndrome - genetics | GATA1 Transcription Factor - genetics | Genetic Diseases, X-Linked - genetics | Mutation | von Willebrand Diseases - genetics | Microfilament Proteins - genetics | Index Medicus | Thrombocytopenia | Clinical aspects | Reviews | Etiology | Platelets | Fechtner syndrome
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4. Genetics, Genomics, and Precision Medicine in End-Stage Kidney Disease
by Kopp, Jeffrey B and Winkler, Cheryl A
Seminars in nephrology, ISSN 0270-9295, 07/2018, Volume 38, Issue 4, pp. 317 - 324
apoliprotein L1 | cardiovascular disease | dialysis survival | APOL1 | diabetic nephropathy | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Genomics | Glomerulosclerosis, Focal Segmental - genetics | Humans | Myosin Heavy Chains - genetics | Arteriosclerosis - genetics | Cardiovascular Diseases - genetics | Molecular Motor Proteins - genetics | Genetic Variation | Anemia - genetics | Cardiovascular Diseases - complications | Receptor, Angiotensin, Type 1 - genetics | Bone Diseases, Metabolic - complications | Nephrosclerosis - genetics | Sickle Cell Trait - genetics | Precision Medicine | Genetic Predisposition to Disease | Dipeptidases - genetics | Oxidative Stress - genetics | Apolipoprotein L1 - genetics | Diabetic Nephropathies - genetics | Genotype | Nerve Tissue Proteins - genetics | Kidney Failure, Chronic - genetics | Anemia - complications | Infection - genetics | Kidney Failure, Chronic - complications | Lim Kinases - genetics | Polymorphism, Single Nucleotide | Bone Diseases, Metabolic - genetics | Complement Factor H - genetics | Infection - complications | Chimerin Proteins - genetics
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5. Full Text MYH9 is associated with nondiabetic end-stage renal disease in African Americans
by Schelling, Jeffrey R and Thornley-Brown, Denyse and Kimmel, Paul L and Klag, Michael J and Li, Man and Patterson, Nick and Kohn, Orly F and Weir, Matthew R and Coresh, Josef and Abboud, Hanna E and Divers, Jasmin and Nicholas, Susanne B and Knowler, William C and Kramp, Kristopher and Berthier-Schaad, Yvette and Tandon, Arti and Iyengar, Sudha K and Sadler, John H and Sedor, John R and Reich, David and Smith, Michael W and Freedman, Barry I and Winkler, Cheryl A and Adler, Sharon G and Parekh, Rulan S and Powe, Neil R and Meoni, Lucy A and Fink, Nancy E and Pahl, Madeleine V and Kao, W H Linda and Leehey, David J and FIND Res Grp and Family Investigation of Nephropathy and Diabetes Research Group and on behalf of the Family Investigation of Nephropathy and Diabetes (FIND) Research Group
Nature genetics, ISSN 1061-4036, 10/2008, Volume 40, Issue 10, pp. 1185 - 1192
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Nephropathies. Renovascular diseases. Renal failure | Renal failure | Nephrology. Urinary tract diseases | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Diabetes Mellitus - pathology | Prospective Studies | Diabetes Mellitus - genetics | Glomerulosclerosis, Focal Segmental - genetics | Humans | Middle Aged | Myosin Heavy Chains - genetics | Male | DNA Primers - chemistry | Molecular Motor Proteins - genetics | Case-Control Studies | Lod Score | Chromosomes, Human, Pair 22 - genetics | Haplotypes - genetics | Kidney Failure, Chronic - pathology | Female | Genetic Linkage | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease - genetics | Risk Factors | African Americans - genetics | Chromosome Mapping | Kidney Failure, Chronic - genetics | Polymorphism, Single Nucleotide - genetics | Genome, Human | Glomerulosclerosis, Focal Segmental - pathology | Cohort Studies | Cellular proteins | Care and treatment | Chronic kidney failure | African Americans | Genetic aspects | Disease susceptibility | Comparative analysis | Health aspects | Risk factors | Medical research | Research methodology | Genetics | Risk | Kidney diseases | Diabetes | Chromosomes | Cancer | Index Medicus
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6. Full Text Tau Promotes Neurodegeneration via DRP1 Mislocalization In Vivo
by DuBoff, Brian and Götz, Jürgen and Feany, Mel B
Neuron (Cambridge, Mass.), ISSN 0896-6273, 08/2012, Volume 75, Issue 4, pp. 618 - 632
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurons - pathology | Microtubule-Associated Proteins - genetics | Tauopathies - genetics | Cytoskeletal Proteins - genetics | Gelsolin - metabolism | Microtubule-Associated Proteins - metabolism | Humans | Actins - metabolism | Tauopathies - pathology | Cytoplasm - metabolism | MicroRNAs - metabolism | Green Fluorescent Proteins - genetics | Mitochondrial Proteins - genetics | Drosophila Proteins - metabolism | GTP-Binding Proteins - genetics | Nerve Degeneration - metabolism | Neurons - ultrastructure | tau Proteins - genetics | Cell Death - genetics | Mitochondria - genetics | Mitochondrial Proteins - metabolism | ATP Synthetase Complexes - metabolism | Cell Cycle Proteins - genetics | Tauopathies - complications | Cytoskeletal Proteins - metabolism | Myosins - metabolism | Cytoplasm - genetics | RNA Interference - physiology | Disease Models, Animal | In Situ Nick-End Labeling | Green Fluorescent Proteins - metabolism | Animals, Genetically Modified | Gene Expression Regulation - genetics | Drosophila | Cell Cycle Proteins - metabolism | Mitochondria - metabolism | Mitochondria - pathology | Mutation - genetics | Animals | GTP Phosphohydrolases - metabolism | Analysis of Variance | GTP Phosphohydrolases - genetics | Gelsolin - genetics | Mice | Drosophila Proteins - genetics | Nerve Degeneration - etiology | Voltage-Dependent Anion Channels - metabolism | GTP-Binding Proteins - metabolism | Nervous system diseases | Actin | Neurons | Utrophin | Myosin | Mitochondrial DNA | Alzheimer's disease | Proteins | Phosphorylation | Mitochondria | Neurotoxicity | Insects | Microscopy | Neurodegeneration | Pathogenesis | Morphology | Mutation | Defects | Index Medicus | Neurodegenerative diseases | Tau protein | Cell death | Elongation
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7. Full Text mRNAs Encoding Polarity and Exocytosis Factors Are Cotransported with the Cortical Endoplasmic Reticulum to the Incipient Bud in Saccharomyces cerevisiae
by Stella Aronov and Rita Gelin-Licht and Gadi Zipor and Liora Haim and Einat Safran and Jeffrey E. Gerst
Molecular and Cellular Biology, ISSN 0270-7306, 05/2007, Volume 27, Issue 9, pp. 3441 - 3455
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | RNA-Binding Proteins - genetics | Saccharomyces cerevisiae - genetics | Endoplasmic Reticulum - metabolism | Myosin Heavy Chains - genetics | rab GTP-Binding Proteins - genetics | Mitochondrial Proteins - genetics | Saccharomyces cerevisiae - metabolism | Biological Transport | Exocytosis - genetics | Cell Division | Peroxins | Nuclear Proteins - genetics | Membrane Proteins - genetics | R-SNARE Proteins - genetics | RNA, Messenger - genetics | Cytoskeleton - genetics | Repressor Proteins - genetics | Electron Transport Complex IV - genetics | Saccharomyces cerevisiae Proteins - genetics | DNA-Binding Proteins - genetics | Saccharomyces cerevisiae - cytology | Carrier Proteins - genetics | Cell Polarity - genetics | Adaptor Proteins, Signal Transducing | Myosin Type V - genetics | Cell Nucleus - genetics | Saccharomyces cerevisiae Proteins - metabolism | Protein Binding | Cytoskeleton - secretion | cdc42 GTP-Binding Protein, Saccharomyces cerevisiae - genetics | RNA-Binding Proteins - metabolism | Index Medicus
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8. Full Text Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans
by Giulio Genovese and David J. Friedman and Michael D. Ross and Laurence Lecordier and Pierrick Uzureau and Barry I. Freedman and Donald W. Bowden and Carl D. Langefeld and Taras K. Oleksyk and Andrea L. Uscinski Knob and Andrea J. Bernhardy and Pamela J. Hicks and George W. Nelson and Benoit Vanhollebeke and Cheryl A. Winkler and Jeffrey B. Kopp and Etienne Pays and Martin R. Pollak
Science (American Association for the Advancement of Science), ISSN 0036-8075, 8/2010, Volume 329, Issue 5993, pp. 841 - 845
Haplotypes | Kidneys | Focal segmental glomerulosclerosis | REPORTS | Diabetic nephropathies | African Americans | Disease risk | Kidney diseases | Chromosomes | Genetic mutation | Genotypes | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Sequence Deletion | Lipoproteins, HDL - genetics | Lipoproteins, HDL - blood | Glomerulosclerosis, Focal Segmental - genetics | Humans | Lipoproteins, HDL - metabolism | Myosin Heavy Chains - genetics | Kidney Failure, Chronic - ethnology | Molecular Motor Proteins - genetics | Case-Control Studies | Trypanosoma brucei rhodesiense - metabolism | Apolipoproteins - genetics | Glomerulosclerosis, Focal Segmental - ethnology | Trypanosomiasis, African - genetics | Recombinant Proteins - metabolism | Genetic Predisposition to Disease | Genetic Association Studies | Apolipoproteins - metabolism | Gene Frequency | Africa | Selection, Genetic | African Americans - genetics | Logistic Models | Apolipoproteins - blood | Immunity, Innate | Linkage Disequilibrium | Kidney Failure, Chronic - genetics | Trypanosomiasis, African - parasitology | Alleles | Apolipoprotein L1 | Hypertension - complications | Polymorphism, Single Nucleotide | Cohort Studies | Kidney Failure, Chronic - etiology | Genetic aspects | Demographic aspects | Health aspects | Proteins | Mutation | Population genetics | Index Medicus | Confidence intervals | Genes | Evolution | Signatures | Survival | Trypanosome
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