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1. Full Text Nephrotic Syndrome: Genetics, Mechanism, and Therapies
by Shin, Jae Il and Kronbichler, Andreas and Oh, Jun and Meijers, Björn
BioMed Research International, ISSN 2314-6133, 2018, Volume 2018, pp. 6215946 - 2
MEDICINE, RESEARCH & EXPERIMENTAL | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | Nephrotic Syndrome - pathology | Nephrotic Syndrome - genetics | Nephrotic Syndrome - therapy | Animals | Humans | Nephrotic Syndrome - metabolism | Pediatrics | Immunoglobulins | Nephrology | Disease | Cytokines | Pathogenesis | Genetics | Nephrotic syndrome | Mutation | Index Medicus
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2. Full Text Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F P and Hoogstraten, Charlotte A and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaëlle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Gee, Heon Yung and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian K and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sana D and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gaffney, Patrick M and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish D and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wierenga, Klaas J and Wolf, Matthias T F and Wong, Sik-Nin and Leidel, Sebastian A and Truglio, Gessica and Dedon, Peter C and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and van Tilbeurgh, Herman and Zenker, Martin and ...
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 10, pp. 1529 - 1529
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly... 
YEAST | UNFOLDED PROTEIN RESPONSE | TRANSFER-RNA MODIFICATION | DNA | KINASE | GENETICS & HEREDITY | SECKEL-SYNDROME | GENOME MAINTENANCE | WDR73 | GALLOWAY-MOWAT SYNDROME | MASS-SPECTROMETRY | 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
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3. Full Text COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
by Heeringa, Saskia F and Chernin, Gil and Chaki, Moumita and Zhou, Weibin and Sloan, Alexis J and Ji, Ziming and Xie, Letian X and Salviati, Leonardo and Hurd, Toby W and Vega-Warner, Virginia and Killen, Paul D and Raphael, Yehoash and Ashraf, Shazia and Ovunc, Bugsu and Schoeb, Dominik S and McLaughlin, Heather M and Airik, Rannar and Vlangos, Christopher N and Gbadegesin, Rasheed and Hinkes, Bernward and Saisawat, Pawaree and Trevisson, Eva and Doimo, Mara and Casarin, Alberto and Pertegato, Vanessa and Giorgi, Gianpietro and Prokisch, Holger and Rötig, Agnès and Nürnberg, Gudrun and Becker, Christian and Wang, Su and Ozaltin, Fatih and Topaloglu, Rezan and Bakkaloglu, Aysin and Bakkaloglu, Sevcan A and Müller, Dominik and Beissert, Antje and Mir, Sevgi and Berdeli, Afig and Özen, Seza and Zenker, Martin and Matejas, Verena and Santos-Ocaña, Carlos and Navas, Placido and Kusakabe, Takehiro and Kispert, Andreas and Akman, Sema and Soliman, Neveen A and Krick, Stefanie and Mundel, Peter and Reiser, Jochen and Nürnberg, Peter and Clarke, Catherine F and Wiggins, Roger C and Faul, Christian and Hildebrandt, Friedhelm
Journal of Clinical Investigation, ISSN 0021-9738, 05/2011, Volume 121, Issue 5, pp. 2013 - 2024
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some... 
MEDICINE, RESEARCH & EXPERIMENTAL | OXIDATIVE STRESS | GENE | COENZYME-Q BIOSYNTHESIS | DIPHOSPHATE SYNTHASE SUBUNIT-2 | NPHS2 | GLOMERULAR PROTEIN | UBIQUINONE BIOSYNTHESIS | COQ DEFICIENCY | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | SACCHAROMYCES-CEREVISIAE | 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
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4. Full Text A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
by Sadowski, Carolin E and Lovric, Svjetlana and Ashraf, Shazia and Pabst, Werner L and Gee, Heon Yung and Kohl, Stefan and Engelmann, Susanne and Vega-Warner, Virginia and Fang, Humphrey and Halbritter, Jan and Somers, Michael J and Tan, Weizhen and Shril, Shirlee and Fessi, Inès and Lifton, Richard P and Bockenhauer, Detlef and El-Desoky, Sherif and Kari, Jameela A and Zenker, Martin and Kemper, Markus J and Mueller, Dominik and Fathy, Hanan M and Soliman, Neveen A and Hildebrandt, Friedhelm and Repetto, H.A and MacTaggart, P and Johnstone, L and Alexander, S and Hodson, E and Mache, C and Jungraithmayr, T.C and Aufricht, C and Arbeiter, K and Lilova, M and Sweeny, C and Filler, G and Licht, C and Chan, S.Y and Skalova, S and Seeman, T and Nuutinen, M and Antignac, C and Briese, S and Querfeld, U and Franke, I and Bachmann, H and Kirschstein, M and Weber, L.T and Hoppe, B and Beck, B.B and Habbig, S and Mayer, B and Büscher, R and Mallmann, R and Vester, U and Latta, K and Pohl, M and Häffner, K and Patzer, L and Henne, T and Pape, L and Schiffer, M and Schwarz, A and Kiepe, D and Schäfer, F and Tönshoff, B and Rönnefarth, G and Strehlau, J.S and Schumacher, M and Beetz, R and Klaus, G and Fehrenbach, H and Kuwertz-Broeking, E and Konrad, M and Schulze-Everding, A and Benz, M.R and Griebel, M and Hoefele, J and Muscheistes, J and Wigger, M and Bald, M and Leichter, H and Reusz, G and Louis, D and Senguttuvan, P and Aravind, R and Padmaraj, R and Manorajan, M and Nampoothiri, S and Sharma, J.S and Bagga, A and Choudry, S and Schreiber, R and Frishberg, Y and Cleper, R and Chenin, G and Gianviti, A and Al-Kandari, F and Tasic, V and Ch'ng, G.S and ... and SRNS Study Grp and SRNS Study Group and the SRNS Study Group
Journal of the American Society of Nephrology, ISSN 1046-6673, 06/2015, Volume 26, Issue 6, pp. 1279 - 1289
Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of ESRD in the first two decades of life. Effective treatment is lacking. First... 
MUTATION ANALYSIS | GENOTYPE/PHENOTYPE CORRELATION | POSTTRANSPLANT | WORLDWIDE COHORT | UROLOGY & NEPHROLOGY | WT1 MUTATIONS | PODOCIN | NPHS1 MUTATIONS | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | DIFFUSE MESANGIAL SCLEROSIS | AGE-OF-ONSET | Humans | Middle Aged | Child, Preschool | Infant | Male | Nephrotic Syndrome - genetics | Nephrotic Syndrome - congenital | Incidence | Young Adult | Adult | Female | Retrospective Studies | Genetic Predisposition to Disease - epidemiology | Child | Intracellular Signaling Peptides and Proteins - genetics | Real-Time Polymerase Chain Reaction | Genetic Association Studies | Risk Assessment | Membrane Proteins - genetics | Genotype | Phenotype | Genes, Wilms Tumor | Nephrotic Syndrome - physiopathology | Pedigree | Adolescent | Age of Onset | Nephrotic Syndrome - epidemiology | Heterozygote | Mutation | Cohort Studies | Index Medicus | SRNS | steroid-resistant nephrotic syndrome | kidney failure | FSGS | nephrosis | genetic disease | Basic Research
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5. Full Text Nephrotic syndrome: Genetic screening in steroid-resistant nephrotic syndrome
by Mak, Robert H and Mak, Robert H and Smoyer, William E and Smoyer, William E
Nature Reviews Nephrology, ISSN 1759-5061, 2013, Volume 9, Issue 7, pp. 379 - 381
DNA Mutational Analysis | Membrane Proteins - genetics | Humans | Female | Male | Nephrotic Syndrome - genetics | Mutation | Genetic Testing - methods | Intracellular Signaling Peptides and Proteins - genetics | Nephrotic Syndrome - congenital | Index Medicus
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6. Full Text Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome
by Colin, Estelle and Huynh Cong, Evelyne and Mollet, Géraldine and Guichet, Agnès and Gribouval, Olivier and Arrondel, Christelle and Boyer, Olivia and Daniel, Laurent and Gubler, Marie-Claire and Ekinci, Zelal and Tsimaratos, Michel and Chabrol, Brigitte and Boddaert, Nathalie and Verloes, Alain and Chevrollier, Arnaud and Gueguen, Naig and Desquiret-Dumas, Valérie and Ferré, Marc and Procaccio, Vincent and Richard, Laurence and Funalot, Benoit and Moncla, Anne and Bonneau, Dominique and Antignac, Corinne
The American Journal of Human Genetics, ISSN 0002-9297, 12/2014, Volume 95, Issue 6, pp. 637 - 648
Galloway-Mowat syndrome is a rare autosomal-recessive condition characterized by nephrotic syndrome associated with microcephaly and neurological impairment.... 
GLOMERULOPATHY | POLARITY | GROWTH | GENETICS & HEREDITY | ARCHITECTURE | PLCE1 | WDR62 | PROTEINS | PODOCYTES | EXPRESSION | DIFFUSE MESANGIAL SCLEROSIS | 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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7. Full Text KANK deficiency leads to podocyte dysfunction and nephrotic syndrome
by Gee, Heon Yung and Zhang, Fujian and Ashraf, Shazia and Kohl, Stefan and Sadowski, Carolin E and Vega-Warner, Virginia and Zhou, Weibin and Lovric, Svjetlana and Fang, Humphrey and Nettleton, Margaret and Zhu, Jun-Yi and Hoefele, Julia and Weber, Lutz T and Podracka, Ludmila and Boor, Andrej and Fehrenbach, Henry and Innis, Jeffrey W and Washburn, Joseph and Levy, Shawn and Lifton, Richard P and Otto, Edgar A and Han, Zhe and Hildebrandt, Friedhelm
Journal of Clinical Investigation, ISSN 0021-9738, 06/2015, Volume 125, Issue 6, pp. 2375 - 2384
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of progressive renal function decline and affects millions of people. In a recent study, 30% of... 
Humans | Nephrotic Syndrome - metabolism | Male | Nephrotic Syndrome - genetics | Proteinuria - pathology | Drosophila Proteins - metabolism | Gene Knockdown Techniques | Tumor Suppressor Proteins - deficiency | Female | Microfilament Proteins - metabolism | Microfilament Proteins - genetics | Cell Line | Tumor Suppressor Proteins - metabolism | Podocytes - metabolism | Zebrafish Proteins - metabolism | Nephrotic Syndrome - pathology | Proteinuria - metabolism | Rats | Podocytes - pathology | Proteinuria - genetics | Zebrafish - genetics | Animals | Zebrafish - metabolism | Drosophila Proteins - genetics | Mutation | Zebrafish Proteins - genetics | Drosophila melanogaster | Proteins | Transplants & implants | Insects | Genes | Colleges & universities | Zebrafish | Software | Children & youth | Index Medicus | Abridged Index Medicus | Genetics | Nephrology | Cell Biology
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8. Full Text ADCK4 mutations promote steroid-Resistant nephrotic syndrome through CoQ10 biosynthesis disruption
by Ashraf, Shazia and Gee, Heon Yung and Woerner, Stephanie and Xie, Letian X and Vega-Warner, Virginia and Lovric, Svjetlana and Fang, Humphrey and Song, Xuewen and Cattran, Daniel C and Avila-Casado, Carmen and Paterson, Andrew D and Nitschké, Patrick and Bole-Feysot, Christine and Cochat, Pierre and Esteve-Rudd, Julian and Haberberger, Birgit and Allen, Susan J and Zhou, Weibin and Airik, Rannar and Otto, Edgar A and Barua, Moumita and Al-Hamed, Mohamed H and Kari, Jameela A and Evans, Jonathan and Bierzynska, Agnieszka and Saleem, Moin A and Böckenhauer, Detlef and Kleta, Robert and Desoky, Sherif El and Hacihamdioglu, Duygu O and Gok, Faysal and Washburn, Joseph and Wiggins, Roger C and Choi, Murim and Lifton, Richard P and Levy, Shawn and Han, Zhe and Salviati, Leonardo and Prokisch, Holger and Williams, David S and Pollak, Martin and Clarke, Catherine F and Pei, York and Antignac, Corinne and Hildebrandt, Friedhelm
Journal of Clinical Investigation, ISSN 0021-9738, 12/2013, Volume 123, Issue 12, pp. 5179 - 5189
Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has furthered the understanding of the pathogenesis of this disease. Here,... 
Protein Kinases - genetics | Humans | Nephrotic Syndrome - metabolism | Molecular Sequence Data | Ubiquinone - metabolism | Nephrotic Syndrome - genetics | Nephrotic Syndrome - drug therapy | Adrenal Cortex Hormones - therapeutic use | Zebrafish - embryology | Gene Knockdown Techniques | Ubiquinone - biosynthesis | Young Adult | DNA Mutational Analysis | Conserved Sequence | Ubiquinone - therapeutic use | Protein Kinases - deficiency | Child | Drosophila Proteins - antagonists & inhibitors | Drug Resistance | Disease Models, Animal | Fibroblasts - metabolism | Amino Acid Sequence | Podocytes - metabolism | Ubiquinone - analogs & derivatives | Zebrafish Proteins - antagonists & inhibitors | Cells, Cultured | Adrenal Cortex Hormones - pharmacology | Nephrotic Syndrome - pathology | Rats | Ubiquinone - antagonists & inhibitors | Zebrafish - genetics | Sequence Homology, Amino Acid | Exome - genetics | Podocytes - ultrastructure | Sequence Alignment | Animals | Protein Kinases - physiology | Adolescent | Consanguinity | Drosophila Proteins - genetics | Mutation | Zebrafish Proteins - genetics | Mitochondria - physiology | Biosynthesis | Nephrotic syndrome | Genetic aspects | Research | Gene mutations | Index Medicus | Abridged Index Medicus
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9. Full Text Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome
by Ebarasi, Lwaki and Ashraf, Shazia and Bierzynska, Agnieszka and Gee, Heon Yung and McCarthy, Hugh J and Lovric, Svjetlana and Sadowski, Carolin E and Pabst, Werner and Vega-Warner, Virginia and Fang, Humphrey and Koziell, Ania and Simpson, Michael A and Dursun, Ismail and Serdaroglu, Erkin and Levy, Shawn and Saleem, Moin A and Hildebrandt, Friedhelm and Majumdar, Arindam and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Uppsala universitet and Vaskulärbiologi
The American Journal of Human Genetics, ISSN 0002-9297, 01/2015, Volume 96, Issue 1, pp. 153 - 161
Nephrotic syndrome (NS), the association of gross proteinuria, hypoalbuminaemia, edema, and hyperlipidemia, can be clinically divided into steroid-sensitive... 
GLOMERULAR SLIT DIAPHRAGM | ZEBRAFISH | NEPHRIN | INHERITED RETINAL DYSTROPHIES | GENETICS & HEREDITY | MUTATIONS | SPECTRUM | PROTEINS | IDENTIFICATION | JUNCTION | CELL POLARITY | Amino Acid Sequence | Membrane Proteins - genetics | Humans | Child, Preschool | Molecular Sequence Data | Podocytes | Rats | Infant | Chromosome Mapping | Nephrotic Syndrome - genetics | Genes, Recessive | Zebrafish - genetics | Exome | Kidney Failure, Chronic - genetics | Carrier Proteins - genetics | Homozygote | Nephrotic Syndrome - complications | Animals | Carrier Proteins - metabolism | Membrane Proteins - metabolism | Mutation | Child | Kidney Failure, Chronic - etiology | Genetic research | Nephrotic syndrome | Genetic aspects | Research | Gene expression | Genomics | Zebrafish | Kidney diseases | Drug resistance | Experiments | Steroids | Index Medicus | Report | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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10. Full Text Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome
by Sheila Santín and Gemma Bullich and Bárbara Tazón-Vega and Rafael García-Maset and Isabel Giménez and Irene Silva and Patricia Ruíz and José Ballarín and Roser Torra and Elisabet Ars
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 05/2011, Volume 6, Issue 5, pp. 1139 - 1148
Background and objectives The increasing number of podocyte-expressed genes implicated in steroid-resistant nephrotic syndrome (SRNS), the phenotypic... 
NEPHRIN MUTATIONS | GENOTYPE/PHENOTYPE CORRELATIONS | GLOMERULAR PROTEIN | UROLOGY & NEPHROLOGY | NPHS2 MUTATIONS | WT1 MUTATIONS | ACTN4 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | MUTATIONAL ANALYSIS | ONSET | DIFFUSE MESANGIAL SCLEROSIS | Cytoskeletal Proteins - genetics | Humans | Child, Preschool | Infant | Nephrotic Syndrome - genetics | Nephrotic Syndrome - drug therapy | Genetic Testing - methods | Young Adult | Phosphoinositide Phospholipase C - genetics | Adult | Steroids - therapeutic use | TRPC Cation Channels - genetics | Child | Intracellular Signaling Peptides and Proteins - genetics | Microfilament Proteins - genetics | WT1 Proteins - genetics | Infant, Newborn | TRPC6 Cation Channel | Membrane Proteins - genetics | Genotype | Drug Resistance - genetics | Phenotype | Algorithms | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Index Medicus | Original
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11. Full Text Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome
by Braun, Daniela A and Sadowski, Carolin E and Kohl, Stefan and Lovric, Svjetlana and Astrinidis, Susanne A and Pabst, Werner L and Gee, Heon Yung and Ashraf, Shazia and Lawson, Jennifer A and Shril, Shirlee and Airik, Merlin and Tan, Weizhen and Schapiro, David and Rao, Jia and Choi, Won-Il and Hermle, Tobias and Kemper, Markus J and Pohl, Martin and Ozaltin, Fatih and Konrad, Martin and Bogdanovic, Radovan and Büscher, Rainer and Helmchen, Udo and Serdaroglu, Erkin and Lifton, Richard P and Antonin, Wolfram and Hildebrandt, Friedhelm
Nature Genetics, ISSN 1061-4036, 03/2016, Volume 48, Issue 4, pp. 457 - 465
Nucleoporins are essential components of the nuclear pore complex (NPC)(1). Only a few diseases have been attributed to NPC dysfunction(2-4). Steroid-resistant... 
IN-VITRO | COMPLEX | DISRUPTION | GENETICS & HEREDITY | EXPORT | CILIOPATHY | PODOCIN | MEMBRANE-PROTEINS | MULTIPOINT LINKAGE ANALYSIS | NUCLEOPORINS | REQUIREMENT | 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
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12. Full Text Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome