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Nature genetics, ISSN 1061-4036, 2017, Volume 49, Issue 10, pp. 1529 - 1538
YEAST | UNFOLDED PROTEIN RESPONSE | TRANSFER-RNA MODIFICATION | DNA | KINASE | SECKEL-SYNDROME | GENOME MAINTENANCE | WDR73 | GALLOWAY-MOWAT SYNDROME | MASS-SPECTROMETRY | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Metalloendopeptidases - genetics | Protein-Serine-Threonine Kinases - deficiency | Microcephaly - genetics | Humans | Metalloendopeptidases - deficiency | Apoptosis - genetics | Multiprotein Complexes - genetics | Nephrotic Syndrome - genetics | DNA Repair - genetics | Telomere Homeostasis - genetics | Endoplasmic Reticulum Stress - genetics | Intracellular Signaling Peptides and Proteins - deficiency | Hernia, Hiatal - genetics | Intracellular Signaling Peptides and Proteins - genetics | Podocytes - metabolism | RNA, Transfer - metabolism | Protein-Serine-Threonine Kinases - genetics | Models, Molecular | Nephrotic Syndrome - pathology | Zebrafish | Cytoskeleton - ultrastructure | Nephrosis - genetics | Gene Knockout Techniques | Carrier Proteins - genetics | Podocytes - ultrastructure | Zebrafish Proteins - deficiency | Animals | RNA Processing, Post-Transcriptional - genetics | CRISPR-Cas Systems | Protein Conformation | Mice | Mutation | Zebrafish Proteins - genetics | Cell Movement | Genetic disorders | Gene mutations | Development and progression | Nephrotic syndrome | Genetic aspects | Microcephaly | Health aspects | Cell proliferation | Brain | CRISPR | Genes | DNA damage | Genomes | Lethality | Kinases | Proteins | Genotype & phenotype | Microencephaly | Actin | Biopsy | Cytoskeleton | Scientific imaging | Endoplasmic reticulum | Mass spectrometry | Deoxyribonucleic acid--DNA | Apoptosis | Index Medicus | Life Sciences
Journal Article
American journal of human genetics, ISSN 0002-9297, 12/2014, Volume 95, Issue 6, pp. 637 - 648
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Microcephaly - genetics | Mitosis | Humans | Child, Preschool | Kidney Glomerulus - physiopathology | Podocytes | Male | Nephrotic Syndrome - genetics | Intellectual Disability - genetics | Microtubules - metabolism | Spindle Poles - metabolism | Hernia, Hiatal - genetics | Microcephaly - physiopathology | Child | Hernia, Hiatal - physiopathology | Cell Line | Cell Survival | Brain - physiopathology | Models, Molecular | Nephrosis - genetics | Protein Transport | Proteins - genetics | Homozygote | Exome - genetics | Proteins - metabolism | Nephrosis - physiopathology | Nephrotic Syndrome - physiopathology | Adolescent | Cytosol - metabolism | Mutation | Genetic research | Nephrotic syndrome | Genetic aspects | Research | Gene mutations | Proteins | Brain | Nuclear magnetic resonance--NMR | Morphology | Cytoplasm | Index Medicus
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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
The Journal of clinical investigation, ISSN 0021-9738, 05/2011, Volume 121, Issue 5, pp. 2013 - 2024
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Humans | Cercopithecus aethiops | Child, Preschool | Infant | Nephrotic Syndrome - genetics | Kidney Glomerulus - metabolism | Child | Intracellular Signaling Peptides and Proteins - genetics | WT1 Proteins - genetics | Infant, Newborn | Podocytes - metabolism | Membrane Proteins - genetics | Rats | Zebrafish | Hearing Loss, Sensorineural - genetics | Ubiquinone - genetics | Laminin - genetics | Homozygote | Nephrotic Syndrome - complications | Phenotype | Animals | HeLa Cells | Hearing Loss, Sensorineural - complications | Mutation | COS Cells | Deafness | Gene mutations | Genetic aspects | Nephrotic syndrome | Research | Health aspects | Risk factors | Index Medicus | Abridged Index Medicus
Journal Article
Nature reviews. Nephrology, ISSN 1759-5061, 03/2013, Volume 9, Issue 3, pp. 179 - 184
Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Insurance Coverage | Humans | Adult | Kidney Transplantation | Nephrotic Syndrome - genetics | Nephrotic Syndrome - therapy | Genetic Testing - economics | Child | Genetic Testing - methods | Nephrotic Syndrome - diagnosis | Usage | Nephrotic syndrome | Genetic aspects | Research | Diagnosis | Genetic screening | Index Medicus
Journal Article
Nephrology, dialysis, transplantation, ISSN 0931-0509, 11/2016, Volume 31, Issue 11, pp. 1802 - 1813
molecular genetics | monogenic disease | steroidresistant nephrotic syndrome (SRNS) | clinical genetic testing | pathogenesis of nephrotic syndrome | Transplantation | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | DNA Mutational Analysis | Genetic Markers - genetics | Humans | Nephrotic Syndrome - genetics | Mutation - genetics | Genetic Testing - methods | Nephrotic Syndrome - congenital | Nephrotic Syndrome - diagnosis | Index Medicus | Cutting-Edge Renal Science | steroid-resistant nephrotic syndrome (SRNS)
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 09/2015, Volume 23, Issue 9, pp. 1192 - 1199
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Glomerulosclerosis, Focal Segmental - genetics | Humans | Middle Aged | Child, Preschool | Infant | Male | Nephrotic Syndrome - genetics | Autoantigens - genetics | Nephrotic Syndrome - congenital | Actinin - genetics | Adult | Female | TRPC Cation Channels - genetics | Child | Microfilament Proteins - genetics | Nephrotic Syndrome - diagnosis | Severity of Illness Index | Gene Expression | TRPC6 Cation Channel | Nephrotic Syndrome - pathology | Genotype | Genetic Heterogeneity | Glomerulosclerosis, Focal Segmental - diagnosis | Phenotype | Adolescent | Collagen Type IV - genetics | High-Throughput Nucleotide Sequencing | Mutation | Glomerulosclerosis, Focal Segmental - pathology | Phenotypes | Nephrology | Transplants & implants | Laboratories | Genomics | Genes | Histology | Nephrotic syndrome | Genetic screening | Hospitals | Etiology | Genetics | Collagen (type IV) | Kidney diseases | Diagnosis | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 03/2016, Volume 48, Issue 4, pp. 457 - 465
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cellular proteins | Gene mutations | Development and progression | Nephrotic syndrome | Genetic aspects | Properties | Health aspects | Proteins | Genotype & phenotype | Microscopy | Pathogenesis | Biopsy | Genes | Rodents | Genomics | Mutation | Charitable foundations | Experiments | Index Medicus
Journal Article
Pediatric nephrology (Berlin, West), ISSN 0931-041X, 07/2017, Volume 32, Issue 7, pp. 1181 - 1192
Chinese | Steroid-resistant nephrotic syndrome | Children | Gene | Pediatrics | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Glucocorticoids - therapeutic use | Protein Kinases - genetics | Humans | TRPC6 Cation Channel - genetics | Asian Continental Ancestry Group - genetics | Child, Preschool | Infant | Male | Nephrotic Syndrome - genetics | Mutation, Missense | Nephrotic Syndrome - drug therapy | DNA Mutational Analysis - methods | Genetic Testing - methods | Nephrotic Syndrome - congenital | China | Female | Child | Intracellular Signaling Peptides and Proteins - genetics | WT1 Proteins - genetics | Infant, Newborn | Genetic Predisposition to Disease | Membrane Proteins - genetics | Proteinuria - genetics | Drug Resistance - genetics | Homozygote | Adolescent | Age of Onset | Glucocorticoids - pharmacology | High-Throughput Nucleotide Sequencing | Sequence Analysis, DNA - methods | Cohort Studies | Usage | Care and treatment | Gene mutations | Analysis | Nephrotic syndrome | Nucleotide sequencing | Research | Diagnosis | Pediatric research | Genetic screening | DNA sequencing | Missense mutation | Etiology | Alport syndrome | Mutation | Minority & ethnic groups | Age | Proteinuria | Index Medicus
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