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Nephrology Dialysis Transplantation, ISSN 0931-0509, 05/2018, Volume 33, Issue suppl_1, pp. i301 - i301
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2016, Volume 113, Issue 36, pp. 10127 - 10132
Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by... 
Autoinflammatory disease | Cytokines | Nf-κb pathway | Linear deubiquitinase | OTULIN | ACTIVATION | AMYLOPECTINOSIS | NF-kappa B pathway | UBIQUITIN | MULTIDISCIPLINARY SCIENCES | linear deubiquitinase | ASSEMBLY COMPLEX | CELL-DEATH | HOIP | SHARPIN | autoinflammatory disease | INFLAMMATION | LUBAC DEFICIENCY | cytokines | IMMUNODEFICIENCY | Fibroblasts - enzymology | Humans | NF-kappa B - immunology | Child, Preschool | Male | Fever - physiopathology | Leukocytes, Mononuclear - immunology | HEK293 Cells | Female | Child | Cytokines - genetics | Failure to Thrive - physiopathology | Hereditary Autoinflammatory Diseases - pathology | Cytokines - immunology | Dermatitis - physiopathology | Signal Transduction | Hereditary Autoinflammatory Diseases - enzymology | Gene Expression Regulation | Ubiquitin - genetics | Endopeptidases - deficiency | Hereditary Autoinflammatory Diseases - diagnosis | Fibroblasts - pathology | Endopeptidases - immunology | Leukocytes, Mononuclear - pathology | Endopeptidases - genetics | NF-kappa B - genetics | Pedigree | Age of Onset | Alleles | Fibroblasts - immunology | Leukocytes, Mononuclear - enzymology | Panniculitis - physiopathology | Consanguinity | Mutation | Ubiquitin - immunology | Hereditary Autoinflammatory Diseases - genetics | Allelomorphism | Genetic aspects | Gene mutations | Autoimmune diseases | Health aspects | Biological Sciences | NF-κB pathway
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
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 4/2016, Volume 31, Issue 4, pp. 633 - 640
Amyloidosis may complicate autoinflammatory diseases (AID). We aimed to evaluate the renal biopsy findings, and clinical and laboratory parameters in patients... 
Pediatrics | Nephrology | Renal amyloidosis | Medicine & Public Health | Anti-interleukin 1 | Autoinflammatory disease | Urology | Anakinra | Proteinuria | EFFICACY | JUVENILE IDIOPATHIC ARTHRITIS | P-COMPONENT | PHASE-III | SUSCEPTIBILITY | AA AMYLOIDOSIS | TOCILIZUMAB | FAMILIAL MEDITERRANEAN FEVER | UROLOGY & NEPHROLOGY | PEDIATRICS | PHARMACOLOGICAL DEPLETION | Kidney - pathology | Humans | Kidney Diseases - diagnosis | Kidney - immunology | Arthritis, Juvenile - diagnosis | Child, Preschool | Amyloidosis - diagnosis | Male | Arthritis, Juvenile - drug therapy | Time Factors | Amyloidosis - immunology | Female | Retrospective Studies | Child | Cryopyrin-Associated Periodic Syndromes - immunology | Kidney - drug effects | Proteinuria - immunology | Kidney Diseases - drug therapy | Treatment Outcome | Amyloidosis - drug therapy | Cryopyrin-Associated Periodic Syndromes - drug therapy | Disease Progression | Kidney Diseases - immunology | Cryopyrin-Associated Periodic Syndromes - diagnosis | Interleukin 1 Receptor Antagonist Protein - therapeutic use | Proteinuria - drug therapy | Arthritis, Juvenile - immunology | Biopsy | Adolescent | Interleukin 1 Receptor Antagonist Protein - adverse effects | Immunologic Factors - adverse effects | Immunologic Factors - therapeutic use | Development and progression | Care and treatment | Amyloidosis | Research | Autoimmune diseases | Risk factors
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
Nephron, ISSN 1660-8151, 07/2019, Volume 142, Issue 3, pp. 258 - 263
The most common disorder of vitamin B12 metabolism is methylmalonic aciduria and homocystinuria type cobalamin C (cblC), which accounts for most of the cases... 
Dehydrogenases | Urinalysis | Blood tests | Aciduria | Infants | Vitamin B12 | Genetic screening | Defects | Convulsions & seizures | Homocystinuria | Hemolytic anemia | Betaine | Hemoglobin | Bone marrow | Age | Urine | Hypertension | Thrombocytopenia | Ventilators | Folinic acid | Nutrient deficiency | Kidneys | Hemolytic uremic syndrome | Leukopenia | Hydration | Anemia | Methionine | Diarrhea | Metabolism | Patients | Citric acid | Carnitine | Acids | Birth weight | Mutation | Homocysteine
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 08/2017, Volume 32, Issue 8, pp. 1369 - 1375
ADCK4-related glomerulopathy is an important differential diagnosis in adolescents with steroid-resistant nephrotic syndrome (SRNS) and/or chronic kidney... 
Chronic kidney disease | Nephrotic syndrome | CoQ10 supplementation | ADCK4 mutation | Adolescent | STEROID-RESISTANT | UROLOGY & NEPHROLOGY | PEDIATRICS | REGISTRY | CHILDREN | Glucocorticoids - therapeutic use | Protein Kinases - genetics | Genetic Testing | Follow-Up Studies | Kidney - pathology | Humans | Child, Preschool | Male | Nephrotic Syndrome - genetics | Nephrotic Syndrome - drug therapy | Young Adult | Time Factors | Albuminuria - diagnosis | DNA Mutational Analysis | Ubiquinone - therapeutic use | Adult | Female | Albuminuria - urine | Child | Nephrotic Syndrome - diagnosis | Drug Resistance | Diagnosis, Differential | Glomerular Filtration Rate | Kidney - drug effects | Kidney Failure, Chronic - diagnosis | Ubiquinone - analogs & derivatives | Treatment Outcome | Vitamins - therapeutic use | Albuminuria - genetics | Kidney Failure, Chronic - genetics | Turkey | Albuminuria - drug therapy | Glucocorticoids - pharmacology | Mutation | Kidney Failure, Chronic - etiology | Glomerulonephritis | Gene mutations | Physiological aspects | Genetic aspects | Research | Diagnosis | Risk factors | Adolescence | End-stage renal disease | Epidermal growth factor receptors | Patients | Genetic screening | Glomerular filtration rate | Etiology | Renal failure | Differential diagnosis | Kidney diseases | Supplementation | Age | Proteinuria | Kidney transplantation
Journal Article
Clinical and Experimental Nephrology, ISSN 1342-1751, 6/2015, Volume 19, Issue 3, pp. 506 - 513
Journal Article
Pediatrics international : official journal of the Japan Pediatric Society, ISSN 1328-8067, 09/2019
CD80 (also known as B7-1) is a costimulatory molecule and was reported to be expressed in biopsies and also excreted in urine from patients with minimal change... 
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