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1. Full Text Autosomal dominant tubulointerstitial kidney disease: of names and genes
by Bleyer, Anthony J and Kmoch, Stanislav
Kidney International, ISSN 0085-2538, 09/2014, Volume 86, Issue 3, pp. 459 - 461
Autosomal dominant tubulointerstitial kidney disease (ADTKD) refers to a group of conditions characterized by autosomal dominant inheritance, a bland urinary... 
UROLOGY & NEPHROLOGY | TYPE-1 | MUTATIONS | Chromosomes, Human, Pair 1 | Nephritis, Interstitial - pathology | Nephritis, Interstitial - genetics | Humans | Chromosome Aberrations | Chromosomes, Human, Pair 16 | Female | Male | Kidney Tubules - pathology | Uromodulin - genetics | Mucin-1 - genetics | Index Medicus
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2. Full Text Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report
by Eckardt, Kai-Uwe and Alper, Seth L and Antignac, Corinne and Bleyer, Anthony J and Chauveau, Dominique and Dahan, Karin and Deltas, Constantinos and Hosking, Andrew and Kmoch, Stanislav and Rampoldi, Luca and Wiesener, Michael and Wolf, Matthias T and Devuyst, Olivier and Kidney Disease: Improving Global Outcomes
Kidney International, ISSN 0085-2538, 10/2015, Volume 88, Issue 4, pp. 676 - 683
Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1 beta... 
kidney disease | uromodulin | hepatocyte nuclear factor-1β | genetics | mucin-1 | renin | UMOD GENE | TAMM-HORSFALL PROTEIN | RENAL-DISEASE | JUVENILE HYPERURICEMIC NEPHROPATHY | HEPATOCYTE NUCLEAR FACTOR-1-BETA | HYPERTENSIVE PATIENTS | CELL CARCINOMA | SERUM URIC-ACID | MEDULLARY CYSTIC-DISEASE | UROLOGY & NEPHROLOGY | hepatocyte nuclear factor-1 beta | Predictive Value of Tests | Humans | Kidney Diseases - diagnosis | Polycystic Kidney, Autosomal Dominant - therapy | Gout - diagnosis | Nephrology - standards | Kidney Diseases - genetics | Uromodulin - classification | Uromodulin - deficiency | Polycystic Kidney, Autosomal Dominant - genetics | DNA Mutational Analysis | Hyperuricemia - therapy | Uromodulin - genetics | Genetic Predisposition to Disease | Kidney Diseases - classification | Hyperuricemia - diagnosis | Hyperuricemia - classification | Terminology as Topic | Treatment Outcome | Consensus | Hyperuricemia - genetics | Gout - therapy | Phenotype | Polycystic Kidney, Autosomal Dominant - diagnosis | Kidney Diseases - therapy | Gout - classification | Gout - genetics | Polycystic Kidney, Autosomal Dominant - classification | Mutation | Index Medicus
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3. Full Text Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies
by Baresova, Veronika and Skopova, Vaclava and Souckova, Olga and Krijt, Matyas and Kmoch, Stanislav and Zikanova, Marie
PLoS ONE, ISSN 1932-6203, 07/2018, Volume 13, Issue 7, pp. e0201432 - e0201432
Background The enzymes involved in de novo purine synthesis (DNPS), one of the basic processes in eukaryotic cells, transiently and reversibly form a dynamic... 
ADENYLOSUCCINATE LYASE DEFICIENCY | ENZYME | COLOCALIZATION | MULTIDISCIPLINARY SCIENCES | COMPLEXES | ADSL DEFICIENCY | MUTATIONS | Cell culture | Immunodetection | Proteins | Purines | Transfection | Synthesis | Salvage | Cell cycle | HeLa cells | Assembly | Deoxyribonucleic acid--DNA | CRISPR | Enzymes | United States--US | Uric acid | Metabolism | Substrates | Purine metabolism | Medicine | Czech Republic | Ribonucleotides | Hospitals | Growth media | DNA | Mutation | Immunofluorescence | Sequence motif analysis | Methods | Cytoplasm | Cancer | Fluorescent antibody technique | Eukaryotes | Usage | Research | Index Medicus | Deoxyribonucleic acid
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4. Full Text Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver
by van de Steeg, Evita and Stránecký, Viktor and Hartmannová, Hana and Nosková, Lenka and Hřebíček, Martin and Wagenaar, Els and van Esch, Anita and de Waart, Dirk R and Oude Elferink, Ronald P. J and Kenworthy, Kathryn E and Sticová, Eva and Al-Eeesi, Mohammad and Knisely, A. S and Kmoch, Stanislav and Jirsa, Milan and Schinkel, Alfred H
Journal of clinical investigation, ISSN 0021-9738, 2012, Volume 122, Issue 2, pp. 519 - 528
Bilirubin, a breakdown product of heme, is normally glucuronidated and excreted by the liver into bile. Failure of this system can lead to a buildup of... 
MEDICINE, RESEARCH & EXPERIMENTAL | HYPERBILIRUBINEMIA | EXPORT PUMP | ANION-TRANSPORTING POLYPEPTIDES | IN-VIVO | BASOLATERAL HEPATOCYTE MEMBRANE | HEPATIC-UPTAKE | MULTIDRUG-RESISTANCE | KNOCKOUT MICE | DUBIN-JOHNSON SYNDROME | BILE | SLCO1B3 protein, human | Humans | Liver | Male | Bilirubin | Organic Anion Transporters, Sodium-Independent | SLCO1B1 protein, human | Mice, Knockout | Index Medicus | Animals | Organic Anion Transporters | DNA Mutational Analysis | Pedigree | Female | Hyperbilirubinemia, Hereditary | Mice | bilirubin glucuronate | Abridged Index Medicus | Solute Carrier Organic Anion Transporter Family Member 1b1 | Organic Anion Transporters, Sodium-Independent - genetics | Bilirubin - metabolism | Hyperbilirubinemia, Hereditary - genetics | Organic Anion Transporters, Sodium-Independent - deficiency | Liver - metabolism | Hyperbilirubinemia, Hereditary - physiopathology | Organic Anion Transporters - deficiency | Organic Anion Transporters - genetics | Hyperbilirubinemia, Hereditary - blood | Bilirubin - analogs & derivatives | Solute Carrier Organic Anion Transporter Family Member 1B3 | Care and treatment | Hyperbilirubinemia | Physiological aspects | Genetic aspects | Research | Risk factors
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5. Full Text Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
by Nosková, Lenka and Stránecký, Viktor and Hartmannová, Hana and Přistoupilová, Anna and Barešová, Veronika and Ivánek, Robert and Hůlková, Helena and Jahnová, Helena and van der Zee, Julie and Staropoli, John F and Sims, Katherine B and Tyynelä, Jaana and Van Broeckhoven, Christine and Nijssen, Peter C.G and Mole, Sara E and Elleder, Milan and Kmoch, Stanislav
The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 241 - 252
Autosomal-dominant adult-onset neuronal ceroid lipofuscinosis (ANCL) is characterized by accumulation of autofluorescent storage material in neural tissues and... 
DOMAIN | CHAPERONE COMPLEX | PALMITOYLATION | FORM | KUFS-DISEASE | COLOCALIZATION | GENETICS & HEREDITY | DEFICIENCY | CSP-ALPHA | DEGENERATION | Proteins | Tissue | Mutation | Gene expression | Cells | Neurological disorders | Neuroprotection | Deposits | Neurodegenerative diseases | Amino acids | Peptide mapping | Protein folding | Neuronal ceroid lipofuscinosis | Gene mapping | Protein interaction | Age | Linkage analysis | Neurons - pathology | Humans | Molecular Sequence Data | Male | Neuronal Ceroid-Lipofuscinoses - pathology | Brain - metabolism | Lysosomes - metabolism | Neuronal Ceroid-Lipofuscinoses - genetics | Neurons - ultrastructure | Base Sequence | Brain - ultrastructure | Adult | Female | Neurons - metabolism | Genetic Linkage | Gene Dosage - genetics | HSP40 Heat-Shock Proteins - genetics | Lipoylation | Membrane Proteins - genetics | Gene Expression Regulation | Exons - genetics | Mutation - genetics | Sequence Analysis, DNA | Protein Transport | Lysosomes - ultrastructure | Pedigree | Age of Onset | Brain - pathology | Family | Genes, Dominant - genetics | Neuronal Ceroid-Lipofuscinoses - epidemiology | Chromosome Segregation - genetics | Neuronal ceroid-lipofuscinosis | Usage | Linkage (Genetics) | Analysis | Causes of | Genetic aspects | Diagnosis | Nucleotide sequencing | Index Medicus
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6. Full Text Diagnostic Utility of Exome Sequencing for Kidney Disease
by Bleyer, AJ and Kmoch, S and Greka, A
NEW ENGLAND JOURNAL OF MEDICINE, ISSN 0028-4793, 05/2019, Volume 380, Issue 21, pp. 2080 - 2080
MEDICINE, GENERAL & INTERNAL | Exome | Kidney Diseases | Sequence Analysis, DNA | Humans | Whole Exome Sequencing
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7. Full Text The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
by Ng, Yi Shiau and Alston, Charlotte L and Diodato, Daria and Morris, Andrew A and Ulrick, Nicole and Kmoch, Stanislav and Houštek, Josef and Martinelli, Diego and Haghighi, Alireza and Atiq, Mehnaz and Gamero, Montserrat Anton and Garcia-Martinez, Elena and Kratochvílová, Hana and Santra, Saikat and Brown, Ruth M and Brown, Garry K and Ragge, Nicola and Monavari, Ahmad and Pysden, Karen and Ravn, Kirstine and Casey, Jillian P and Khan, Arif and Chakrapani, Anupam and Vassallo, Grace and Simons, Cas and McKeever, Karl and O'Sullivan, Siobhan and Childs, Anne-Marie and Østergaard, Elsebet and Vanderver, Adeline and Goldstein, Amy and Vogt, Julie and Taylor, Robert W and McFarland, Robert
Journal of Medical Genetics, ISSN 0022-2593, 11/2016, Volume 53, Issue 11, pp. 768 - 775
Background Mutations in the RMND1 (Required for Meiotic Nuclear Division protein 1) gene have recently been linked to infantile onset mitochondrial disease... 
COMPLEX DEFICIENCIES | RMND1 MUTATION | DEFECT | GENETICS & HEREDITY | RENAL-FAILURE | TRANSLATION | ENCEPHALONEUROMYOPATHY | Mitochondrial diseases | Genetic aspects | Research | Mutation (Biology) | Risk factors
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8. Full Text Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
by Kirby, Andrew and Gnirke, Andreas and Jaffe, David B and Barešová, Veronika and Pochet, Nathalie and Blumenstiel, Brendan and Ye, Chun and Aird, Daniel and Stevens, Christine and Robinson, James T and Cabili, Moran N and Gat-Viks, Irit and Kelliher, Edward and Daza, Riza and Defelice, Matthew and Hůlková, Helena and Sovová, Jana and Vylet'al, Petr and Antignac, Corinne and Guttman, Mitchell and Handsaker, Robert E and Perrin, Danielle and Steelman, Scott and Sigurdsson, Snaevar and Scheinman, Steven J and Sougnez, Carrie and Cibulskis, Kristian and Parkin, Melissa and Green, Todd and Rossin, Elizabeth and Zody, Michael C and Xavier, Ramnik J and Pollak, Martin R and Alper, Seth L and Lindblad-Toh, Kerstin and Gabriel, Stacey and Hart, P. Suzanne and Regev, Aviv and Nusbaum, Chad and Kmoch, Stanislav and Bleyer, Anthony J and Lander, Eric S and Daly, Mark J and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för medicinsk biokemi och mikrobiologi and Uppsala universitet
Nature Genetics, ISSN 1061-4036, 03/2013, Volume 45, Issue 3, pp. 299 - 303
Although genetic lesions responsible for some mendelian disorders can be rapidly discovered through massively parallel sequencing of whole genomes or exomes,... 
REFINEMENT | GENETIC DIAGNOSIS | CHROMOSOME 1Q21 | GENETICS & HEREDITY | LINKAGE | LOCUS | MAP | MCKD1 | Haplotypes | Genes | Genomics | Humans | Male | Minisatellite Repeats | Mucin-1 | Proteins | MUC1 protein, human | Genetics | Female | Cytosine | High-Throughput Nucleotide Sequencing | Mutation | Polycystic Kidney, Autosomal Dominant | Genetic Linkage | MUC1 gene | Nucleotide sequence | mucin | Insertion | Data processing | Genomes | Kidney diseases | Chromosome 1 | Mucin-1 - metabolism | Polycystic Kidney, Autosomal Dominant - pathology | Polycystic Kidney, Autosomal Dominant - genetics | Cytosine - metabolism | Minisatellite Repeats - genetics | Mucin-1 - genetics | Gene mutations | Physiological aspects | Development and progression | Genetic aspects | Research | Nucleotide sequencing | Polycystic kidney disease | DNA sequencing | Index Medicus | Naturvetenskap | Natural Sciences
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9. Full Text Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2
by Davidson, Alice E and Liskova, Petra and Evans, Cerys J and Dudakova, Lubica and Nosková, Lenka and Pontikos, Nikolas and Hartmannová, Hana and Hodaňová, Kateřina and Stránecký, Viktor and Kozmík, Zbyněk and Levis, Hannah J and Idigo, Nwamaka and Sasai, Noriaki and Maher, Geoffrey J and Bellingham, James and Veli, Neyme and Ebenezer, Neil D and Cheetham, Michael E and Daniels, Julie T and Thaung, Caroline M.H and Jirsova, Katerina and Plagnol, Vincent and Filipec, Martin and Kmoch, Stanislav and Tuft, Stephen J and Hardcastle, Alison J
The American Journal of Human Genetics, ISSN 0002-9297, 01/2016, Volume 98, Issue 1, pp. 75 - 89
Congenital hereditary endothelial dystrophy 1 (CHED1) and posterior polymorphous corneal dystrophy 1 (PPCD1) are autosomal-dominant corneal endothelial... 
CELLS | ADHESION | MANAGEMENT | GENE | MEMBRANE | GENETICS & HEREDITY | DIFFERENTIATION | CHROMOSOME-20 | LINKAGE | IDENTIFICATION | EXPRESSION | Cornea | Congenital diseases | Genomics | Gene loci | Mutation | Gene expression | Binding sites | Promoter Regions, Genetic | Pedigree | Base Sequence | DNA | Humans | Alleles | Corneal Dystrophies, Hereditary - genetics | Female | Male | Transcription Factors - genetics | Sequence Homology, Nucleic Acid | Allelomorphism | Genetic disorders | Gene mutations | Physiological aspects | Corneal diseases | Genetic aspects | Observations | Health aspects | Index Medicus
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10. Full Text Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes
by Soukupova, Jana and Zemankova, Petra and Lhotova, Klara and Janatova, Marketa and Borecka, Marianna and Stolarova, Lenka and Lhota, Filip and Foretova, Lenka and Machackova, Eva and Stranecky, Viktor and Tavandzis, Spiros and Kleiblova, Petra and Vocka, Michal and Hartmannova, Hana and Hodanova, Katerina and Kmoch, Stanislav and Kleibl, Zdenek
PLoS ONE, ISSN 1932-6203, 04/2018, Volume 13, Issue 4, pp. e0195761 - e0195761
Background Carriers of mutations in hereditary cancer predisposition genes represent a small but clinically important subgroup of oncology patients. The... 
BREAST-CANCER | BRCA1 GENE | SEQUENCE VARIATION | PREDISPOSITION GENES | COLORECTAL-CANCER | MULTIDISCIPLINARY SCIENCES | HIGH PROPORTION | AMERICAN-COLLEGE | GENETIC-VARIANTS | MEDICAL GENETICS | OVARIAN-CANCER | Panels | Copy number | Genes | Genomics | Oncology | Biochemistry | Medical diagnosis | Epidemiology | Genetic screening | Subgroups | Gene sequencing | Cancer detection and diagnosis | Consolidation | Next-generation sequencing | Cell cycle | DNA fragmentation | Genetics | Bioinformatics | Genetic counselling | Genotypes | Deoxyribonucleic acid--DNA | DNA replication | Risk groups | Genome sequencing | Health risks | Breast cancer | Patients | Genetic causes of cancer | Medicine | Czech Republic | Hospitals | DNA | Diagnostic systems | Mutation | Cancer | DNA sequencing | Computational Biology - methods | Genetic Predisposition to Disease | Reproducibility of Results | Genetic Testing | Genetic Association Studies | Humans | Male | Biomarkers, Tumor | INDEL Mutation | DNA Copy Number Variations | High-Throughput Nucleotide Sequencing - standards | Sensitivity and Specificity | Female | Neoplastic Syndromes, Hereditary - genetics | High-Throughput Nucleotide Sequencing - methods | Usage | Gene mutations | Oncology, Experimental | Genotype | Research | High-throughput screening (Biochemical assaying) | Index Medicus | Deoxyribonucleic acid
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11. Full Text TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
by Kaplanová, Vilma and Sperl, Wolfgang and Houšt k, Josef and Paul, Jan and Vrbacký, Marek and Hansíková, Hana and Hejzlarová, Kate ina and Nosková, Lenka and Honzík, Tomáš and Drahota, Zden k and Zeman, Ji í and í ková, Alena and Kmoch, Stanislav and Kuss, Andreas W and Stránecký, Viktor and Mayr, Johannes A and Magner, Martin and Tesa ová, Markéta and Havlí ková, Vendula and Hartmannová, Hana and Ivánek, Robert
Nature Genetics, ISSN 1061-4036, 11/2008, Volume 40, Issue 11, pp. 1288 - 1290
We carried out whole-genome homozygosity mapping, gene expression analysis and DNA sequencing in individuals with isolated mitochondrial ATP synthase... 
DEFECTS | COMPLEX | ORIGIN | ASSEMBLY FACTORS | GENETICS & HEREDITY | Enzymes | Neonates | ATP synthase | Mitochondria | Evolution | Complementation | Mutation | Gene mapping | DNA sequencing | Cell Line | Mitochondrial Encephalomyopathies | Humans | Mitochondrial Proteins | Genetic Complementation Test | Membrane Proteins | Mitochondrial Proton-Translocating ATPases | Transfection | Cloning, Molecular | Genetics | Cardiomyopathies | Adenosine triphosphatase | Infant, Newborn | DNA, Complementary | TMEM70 protein, human | Mitochondrial Encephalomyopathies - complications | Membrane Proteins - genetics | Mitochondrial Encephalomyopathies - genetics | DNA, Complementary - genetics | Mitochondrial Encephalomyopathies - enzymology | Mitochondrial Proton-Translocating ATPases - deficiency | Mitochondrial Proteins - genetics | Mutation - genetics | Cardiomyopathies - enzymology | Cardiomyopathies - genetics | Cardiomyopathies - complications | Gene mutations | Cardiomyopathy | Physiological aspects | Genetic aspects | Research | Health aspects | Heart diseases | ATP synthases | Risk factors | Index Medicus
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12. Full Text Tamm Horsfall glycoprotein and uromodulin: It is all about the tubules
by Bleyer, Anthony J and Kmoch, Stanislav
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 01/2016, Volume 11, Issue 1, pp. 6 - 8
PROTEIN | UMOD GENE | BIOLOGY | DISEASE | UROLOGY & NEPHROLOGY | KIDNEY | NEPHROPATHY | Mucoproteins | Humans | Uromodulin | Index Medicus
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13. Full Text Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females
by Zikánová, Marie and Wahezi, Dawn and Hay, Arielle and Stibůrková, Blanka and Pitts, Charles and Mušálková, Dita and Škopová, Václava and Barešová, Veronika and Součková, Olga and Hodaňová, Kateřina and Živná, Martina and Stránecký, Viktor and Hartmannová, Hana and Hnízda, Ales and Bleyer, Anthony J and Kmoch, Stanislav
Rheumatology, ISSN 1462-0324, 07/2018, Volume 57, Issue 7, pp. 1180 - 1185
Abstract Objectives Phosphoribosylpyrophosphate synthetase (PRPS1) superactivity is an X-linked disorder characterized by urate overproduction Online Mendelian... 
PRPS1 | Rare disease | Gouty arthritis | Hyperuricaemia | Chronic kidney disease | Hereditary gout | PRPS1 superactivity | Polyarticular gout | X-linked inheritance | chronic kidney disease | polyarticular gout | ADSL | rare disease | gouty arthritis | RHEUMATOLOGY | hereditary gout | DEFICIENCY | OVERPRODUCTION | HYPERURICEMIA | MUTATION | hyperuricaemia | End-stage renal disease | Kidneys | Gout | Heredity | Family medical history | Nephrolithiasis | Uric acid | Renal failure | Children | Mutation | Kidney diseases | Internet | Females | Genetic counselling | Nephrolithiasis - etiology | Humans | Ribose-Phosphate Pyrophosphokinase - metabolism | Male | Arthritis, Gouty - genetics | Whole Genome Sequencing - methods | Genetic Diseases, X-Linked - diagnosis | Purine-Pyrimidine Metabolism, Inborn Errors - diagnosis | Purine-Pyrimidine Metabolism, Inborn Errors - complications | Pedigree | Arthritis, Gouty - etiology | Ribose-Phosphate Pyrophosphokinase - genetics | Adolescent | Purine-Pyrimidine Metabolism, Inborn Errors - genetics | Adult | Female | Genetic Diseases, X-Linked - genetics | Molecular Structure | Nephrolithiasis - genetics | Index Medicus | Abridged Index Medicus
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14. Full Text Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans
by Gstrein, Thomas and Edwards, Andrew and Přistoupilová, Anna and Leca, Ines and Breuss, Martin and Pilat-Carotta, Sandra and Hansen, Andi H and Tripathy, Ratna and Traunbauer, Anna K and Hochstoeger, Tobias and Rosoklija, Gavril and Repic, Marco and Landler, Lukas and Stránecký, Viktor and Dürnberger, Gerhard and Keane, Thomas M and Zuber, Johannes and Adams, David J and Flint, Jonathan and Honzik, Tomas and Gut, Marta and Beltran, Sergi and Mechtler, Karl and Sherr, Elliott and Kmoch, Stanislav and Gut, Ivo and Keays, David A
Nature Neuroscience, ISSN 1097-6256, 02/2018, Volume 21, Issue 2, pp. 207 - 217
The formation of the vertebrate brain requires the generation, migration, differentiation and survival of neurons. Genetic mutations that perturb these... 
HIPPOCAMPUS | MOUSE MUTANT | DEFECTS | PROTEIN | LIM-KINASE | AUTOPHAGY | DYSFUNCTION | DENTATE GYRUS | NEUROSCIENCES | BRAIN | COFILIN PHOSPHORYLATION | Brain | Cell survival | Migration | Trafficking | Epilepsy | Cortex | Telencephalon | Neurodevelopmental disorders | Signalling | Autophagy | Ablation | Substrates | Atrophy | Ethyl nitrosourea | Fractures | Mutation | Cell migration | Hippocampus | Phagocytosis | Apoptosis | Neurons - pathology | Vacuolar Proton-Translocating ATPases - genetics | Embryo, Mammalian | Humans | Atrophy - pathology | Ethylnitrosourea - toxicity | Gene Expression Regulation, Developmental - genetics | Male | Neurodevelopmental Disorders - genetics | Neurodevelopmental Disorders - diagnostic imaging | Autophagy - drug effects | Cell Movement - genetics | Vacuolar Proton-Translocating ATPases - drug effects | Neurons - ultrastructure | Alkylating Agents - toxicity | Neurodevelopmental Disorders - chemically induced | Atrophy - genetics | Female | Autophagy - genetics | Neurons - drug effects | Disease Models, Animal | Animals, Newborn | Mice, Inbred C57BL | Gene Expression Regulation, Developmental - drug effects | Mice, Transgenic | Signal Transduction - genetics | Neurodevelopmental Disorders - pathology | Brain - drug effects | Cell Movement - drug effects | Animals | Mutation - drug effects | Signal Transduction - drug effects | Brain - pathology | Atrophy - chemically induced | Mice | Gene mutations | Neuronal migration disorders | Genetic aspects | Health aspects | Mental illness | Risk factors | Brain diseases | Index Medicus
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