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Pediatric Nephrology, ISSN 0931-041X, 6/2014, Volume 29, Issue 6, pp. 961 - 969
Oxidative phosphorylation (OXPHOS) is a metabolic pathway that uses energy released by the oxidation of nutrients to generate adenosine triphosphate (ATP).... 
Pediatrics | Ubiquinone | Nephropathy | Treatment | Medicine & Public Health | Primary coenzyme Q 10 deficiency | Genetics | Renal disease | Mitochondrial Diseases - genetics | Mitochondrial Diseases - complications | Humans | Ubiquinone - deficiency | Muscle Weakness - complications | Ataxia - complications | Kidney Diseases - genetics
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 06/2014, Volume 29, Issue 6, p. 961
  Oxidative phosphorylation (OXPHOS) is a metabolic pathway that uses energy released by the oxidation of nutrients to generate adenosine triphosphate (ATP).... 
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 06/2014, Volume 29, Issue 6, p. 961
Oxidative phosphorylation (OXPHOS) is a metabolic pathway that uses energy released by the oxidation of nutrients to generate adenosine triphosphate (ATP).... 
Phosphorylation | Physiological aspects | Ubiquinones | Genetic aspects | Kidney diseases | Diagnosis | Research | Risk factors
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 07/2011, Volume 365, Issue 4, pp. 295 - 306
Journal Article
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 | Deafness | Gene mutations | Genetic aspects | Nephrotic syndrome | Research | Health aspects | Risk factors
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 06/2017, Volume 102, Issue Suppl 2, p. A3
Crescentic glomerulonephritis (CGN) is a rare cause of glomerulonephritis in childhood. This study aims to evaluate the aetiology, demographic and... 
Journal Article
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 | Life Sciences
Journal Article
Kidney International, ISSN 0085-2538, 05/2014, Volume 85, Issue 5, pp. 1169 - 1178
mutations cause a wide spectrum of renal and extrarenal manifestations. Here we evaluated disease prevalence, phenotype spectrum, and genotype–phenotype... 
Denys–Drash syndrome | diffuse mesangial sclerosis | Frasier syndrome | steroid-resistant nephrotic syndrome | focal segmental glomerulosclerosis | WT1 | Denys-Drash syndrome | Steroid-resistant nephrotic syndrome | Diffuse mesangial sclerosis | Focal segmental glomerulosclerosis | STEROID-RESISTANT | SPLICE-SITE MUTATIONS | RESISTANT NEPHROTIC SYNDROME | BINDING ACTIVITY | SUPPRESSOR GENE WT1 | WILMS-TUMOR | PROTEIN WT1 | UROLOGY & NEPHROLOGY | FRASIER-SYNDROME | EXPRESSION | Prevalence | Prognosis | Glomerulosclerosis, Focal Segmental - genetics | Humans | Child, Preschool | Infant | Male | Nephrotic Syndrome - genetics | Genetic Testing - methods | Nephrotic Syndrome - congenital | Incidence | Renal Insufficiency, Chronic - epidemiology | Renal Insufficiency, Chronic - therapy | Time Factors | DNA Mutational Analysis | Renal Insufficiency, Chronic - genetics | Female | Registries | Renal Insufficiency, Chronic - diagnosis | Nephrotic Syndrome - therapy | Child | Nephrotic Syndrome - diagnosis | WT1 Proteins - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Glomerulosclerosis, Focal Segmental - epidemiology | Risk Factors | Disease Progression | Glomerulosclerosis, Focal Segmental - diagnosis | Phenotype | Age of Onset | Nephrotic Syndrome - epidemiology | Glomerulosclerosis, Focal Segmental - therapy | Mutation
Journal Article