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 | SECKEL-SYNDROME | GENOME MAINTENANCE | WDR73 | GALLOWAY-MOWAT SYNDROME | MASS-SPECTROMETRY | GENETICS & HEREDITY | 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
YEAST | UNFOLDED PROTEIN RESPONSE | TRANSFER-RNA MODIFICATION | DNA | KINASE | SECKEL-SYNDROME | GENOME MAINTENANCE | WDR73 | GALLOWAY-MOWAT SYNDROME | MASS-SPECTROMETRY | GENETICS & HEREDITY | 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
Human Mutation, ISSN 1059-7794, 02/2014, Volume 35, Issue 2, pp. 178 - 186
ABSTRACT Mutations in the NPHS2 gene encoding podocin are implicated in an autosomal‐recessive form of nonsyndromic steroid‐resistant nephrotic syndrome in...
FSGS | NPHS2 | steroid‐resistant nephrotic syndrome | podocin | Steroid-resistant nephrotic syndrome | Podocin | GENE-MUTATIONS | CLINICAL-FEATURES | CHINESE CHILDREN | PROTEIN PODOCIN | R229Q | steroid-resistant nephrotic syndrome | WT1 | GENETICS & HEREDITY | RECURRENCE | PODOCIN MUTATIONS | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | ONSET | Membrane Proteins - genetics | Humans | Child, Preschool | Nephrotic Syndrome - pathology | Genotype | Intracellular Signaling Peptides and Proteins - metabolism | Nephrotic Syndrome - genetics | Nephrotic Syndrome - congenital | Genetic Variation | Phenotype | Animals | Age of Onset | Adult | Membrane Proteins - metabolism | Polymorphism, Single Nucleotide | Software | Mutation | Intracellular Signaling Peptides and Proteins - genetics | Disease Models, Animal | Genetic aspects | Nephrotic syndrome | Chronic kidney failure | Analysis
FSGS | NPHS2 | steroid‐resistant nephrotic syndrome | podocin | Steroid-resistant nephrotic syndrome | Podocin | GENE-MUTATIONS | CLINICAL-FEATURES | CHINESE CHILDREN | PROTEIN PODOCIN | R229Q | steroid-resistant nephrotic syndrome | WT1 | GENETICS & HEREDITY | RECURRENCE | PODOCIN MUTATIONS | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | ONSET | Membrane Proteins - genetics | Humans | Child, Preschool | Nephrotic Syndrome - pathology | Genotype | Intracellular Signaling Peptides and Proteins - metabolism | Nephrotic Syndrome - genetics | Nephrotic Syndrome - congenital | Genetic Variation | Phenotype | Animals | Age of Onset | Adult | Membrane Proteins - metabolism | Polymorphism, Single Nucleotide | Software | Mutation | Intracellular Signaling Peptides and Proteins - genetics | Disease Models, Animal | Genetic aspects | Nephrotic syndrome | Chronic kidney failure | Analysis
Journal Article
BMC Nephrology, ISSN 1471-2369, 07/2017, Volume 18, Issue 1, pp. 210 - 8
Background: Nephropathic cystinosis is a rare inherited metabolic disorder leading to progressive renal failure and extra-renal comorbidity. The prognosis...
Cysteamine | Developing nations | Nephropathic cystinosis | GENE | CYSTEAMINE THERAPY | ADOLESCENTS | UROLOGY & NEPHROLOGY | CHILDREN | Kidney Failure, Chronic - diagnosis | Follow-Up Studies | Global Health | Physicians | Humans | Child, Preschool | Infant | Male | Cystinosis - therapy | Kidney Failure, Chronic - therapy | Young Adult | Cystinosis - diagnosis | Kidney Failure, Chronic - epidemiology | Cystinosis - epidemiology | Internationality | Adolescent | Adult | Female | Surveys and Questionnaires | Developing Countries | Retrospective Studies | Child | Surveys | Rare diseases | Care and treatment | Prognosis | Chronic kidney failure | Analysis | Developing countries | Comparative analysis | End-stage renal disease | Pediatrics | Nephrology | Transplants & implants | Disease | Industrialized nations | Transplantation | Survival | Studies | Cystinosis | Hypotheses | Demographics | Ostomy | Medical prognosis | Questionnaires | Renal failure | Standard deviation | Teenagers | Kidney diseases | Age | Metabolic disorders | Peritoneum | Kidney transplantation | Life Sciences | Human health and pathology | Urology and Nephrology
Cysteamine | Developing nations | Nephropathic cystinosis | GENE | CYSTEAMINE THERAPY | ADOLESCENTS | UROLOGY & NEPHROLOGY | CHILDREN | Kidney Failure, Chronic - diagnosis | Follow-Up Studies | Global Health | Physicians | Humans | Child, Preschool | Infant | Male | Cystinosis - therapy | Kidney Failure, Chronic - therapy | Young Adult | Cystinosis - diagnosis | Kidney Failure, Chronic - epidemiology | Cystinosis - epidemiology | Internationality | Adolescent | Adult | Female | Surveys and Questionnaires | Developing Countries | Retrospective Studies | Child | Surveys | Rare diseases | Care and treatment | Prognosis | Chronic kidney failure | Analysis | Developing countries | Comparative analysis | End-stage renal disease | Pediatrics | Nephrology | Transplants & implants | Disease | Industrialized nations | Transplantation | Survival | Studies | Cystinosis | Hypotheses | Demographics | Ostomy | Medical prognosis | Questionnaires | Renal failure | Standard deviation | Teenagers | Kidney diseases | Age | Metabolic disorders | Peritoneum | Kidney transplantation | Life Sciences | Human health and pathology | Urology and Nephrology
Journal Article
Human Mutation, ISSN 1059-7794, 08/2015, Volume 36, Issue 8, pp. 743 - 752
ABSTRACT Dent disease is a rare X‐linked tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis and/or...
low molecular weight proteinuria | renal failure | ClC‐5 | CLCN5 | Dent disease 1 | ClC-5 | Low molecular weight proteinuria | Renal failure | PHENOTYPE | JAPANESE CHILDREN | ENDOCYTOSIS | IDENTIFICATION | MESSENGER-RNA | GENETICS & HEREDITY | MOLECULAR-WEIGHT PROTEINURIA | RENAL CHLORIDE CHANNEL | NEPHROCALCINOSIS | EXPRESSION | Chloride Channels - chemistry | Genetic Association Studies | Humans | Male | Chloride Channels - genetics | Mice, Knockout | Chloride Channels - metabolism | Animals | Dent Disease - genetics | Pedigree | Dent Disease - metabolism | Mice | Mutation | Cohort Studies | Genotype & phenotype | Genetic counseling | Genetic disorders | Life Sciences
low molecular weight proteinuria | renal failure | ClC‐5 | CLCN5 | Dent disease 1 | ClC-5 | Low molecular weight proteinuria | Renal failure | PHENOTYPE | JAPANESE CHILDREN | ENDOCYTOSIS | IDENTIFICATION | MESSENGER-RNA | GENETICS & HEREDITY | MOLECULAR-WEIGHT PROTEINURIA | RENAL CHLORIDE CHANNEL | NEPHROCALCINOSIS | EXPRESSION | Chloride Channels - chemistry | Genetic Association Studies | Humans | Male | Chloride Channels - genetics | Mice, Knockout | Chloride Channels - metabolism | Animals | Dent Disease - genetics | Pedigree | Dent Disease - metabolism | Mice | Mutation | Cohort Studies | Genotype & phenotype | Genetic counseling | Genetic disorders | Life Sciences
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 07/2010, Volume 47, Issue 7, pp. 445 - 452
BackgroundMutations in the PLCE1 gene encoding phospholipase C epsilon 1 (PLCɛ1) have been recently described in patients with early onset nephrotic syndrome...
ACTIVATION | GROWTH | GENETICS & HEREDITY | PHOSPHOLIPASE-C-EPSILON | NEPHRONOPHTHISIS | MICE | BRAF | B-RAF | IQGAP1 | INHERITANCE | DIFFUSE MESANGIAL SCLEROSIS | Genetic Predisposition to Disease - genetics | Glomerulosclerosis, Focal Segmental - genetics | Humans | Middle Aged | Child, Preschool | Infant | Male | Nephrotic Syndrome - genetics | Nephrotic Syndrome - drug therapy | Phenotype | Phosphoinositide Phospholipase C - genetics | DNA Mutational Analysis | Adolescent | Statistics, Nonparametric | Aged, 80 and over | Adult | Female | Aged | Steroids - therapeutic use | Mutation | Child | Cohort Studies | Complications and side effects | Gene mutations | Nephrotic syndrome | Genetic aspects | Research | Phospholipases | Drug resistance | Steroids (Drugs) | Risk factors
ACTIVATION | GROWTH | GENETICS & HEREDITY | PHOSPHOLIPASE-C-EPSILON | NEPHRONOPHTHISIS | MICE | BRAF | B-RAF | IQGAP1 | INHERITANCE | DIFFUSE MESANGIAL SCLEROSIS | Genetic Predisposition to Disease - genetics | Glomerulosclerosis, Focal Segmental - genetics | Humans | Middle Aged | Child, Preschool | Infant | Male | Nephrotic Syndrome - genetics | Nephrotic Syndrome - drug therapy | Phenotype | Phosphoinositide Phospholipase C - genetics | DNA Mutational Analysis | Adolescent | Statistics, Nonparametric | Aged, 80 and over | Adult | Female | Aged | Steroids - therapeutic use | Mutation | Child | Cohort Studies | Complications and side effects | Gene mutations | Nephrotic syndrome | Genetic aspects | Research | Phospholipases | Drug resistance | Steroids (Drugs) | Risk factors
Journal Article
Nature Genetics, ISSN 1061-4036, 10/2017, Volume 49, Issue 10, pp. 1529 - 1538
Journal Article
Nature genetics, ISSN 1061-4036, 10/2017, Volume 49, Issue 10, pp. 1529 - 1538
Galloway-Mowat syndrome (GAMOS) is a severe autosomal-recessive disease characterized by the combination of early-onset steroid-resistant nephrotic syndrome...
Journal Article
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Full Text
AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population
Genetic Testing and Molecular Biomarkers, ISSN 1945-0265, 11/2015, Volume 19, Issue 11, pp. 623 - 628
Introduction: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder caused by deficiency of alanine glyoxylate aminotransferase, due to a...
DIAGNOSIS | AFRICA | DISEASE | GENETICS & HEREDITY | EXPERIENCE | UPDATE | CHILDREN | Genetic Testing | Prevalence | Exons | Hyperoxaluria, Primary - diagnosis | Transaminases - genetics | Humans | Real-Time Polymerase Chain Reaction - methods | Child, Preschool | Infant | Male | Hyperoxaluria, Primary - epidemiology | Hyperoxaluria, Primary - genetics | Adolescent | Alleles | Morocco - epidemiology | Adult | Female | Mutation | Child | Infant, Newborn
DIAGNOSIS | AFRICA | DISEASE | GENETICS & HEREDITY | EXPERIENCE | UPDATE | CHILDREN | Genetic Testing | Prevalence | Exons | Hyperoxaluria, Primary - diagnosis | Transaminases - genetics | Humans | Real-Time Polymerase Chain Reaction - methods | Child, Preschool | Infant | Male | Hyperoxaluria, Primary - epidemiology | Hyperoxaluria, Primary - genetics | Adolescent | Alleles | Morocco - epidemiology | Adult | Female | Mutation | Child | Infant, Newborn
Journal Article
Human Mutation, ISSN 1059-7794, 02/2014, Volume 35, Issue 2, pp. 178 - 186
Journal Article
Human Mutation, ISSN 1059-7794, 08/2015, Volume 36, Issue 8, pp. 743 - 752
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 07/2010, Volume 47, Issue 7, pp. 445 - 52
BACKGROUND: Mutations in the PLCE1 gene encoding phospholipase C epsilon 1 (PLCepsilon1) have been recently described in patients with early onset nephrotic...
Genetic Predisposition to Disease | Humans | Middle Aged | Child, Preschool | Infant | Male | Phosphoinositide Phospholipase C | Nephrotic Syndrome | Life Sciences | Phenotype | DNA Mutational Analysis | Adolescent | Statistics, Nonparametric | Aged, 80 and over | Adult | Female | Genetics | Aged | Glomerulosclerosis, Focal Segmental | Mutation | Child | Steroids | Cohort Studies
Genetic Predisposition to Disease | Humans | Middle Aged | Child, Preschool | Infant | Male | Phosphoinositide Phospholipase C | Nephrotic Syndrome | Life Sciences | Phenotype | DNA Mutational Analysis | Adolescent | Statistics, Nonparametric | Aged, 80 and over | Adult | Female | Genetics | Aged | Glomerulosclerosis, Focal Segmental | Mutation | Child | Steroids | Cohort Studies
Journal Article
Nephrologie et Therapeutique, ISSN 1769-7255, 2012, Volume 8, Issue 4, pp. 247 - 258
Acute postinfectious glomerulonephritis are defined by an acute nonsuppurative inflammatory insult predominantly glomerular. Its current incidence is uncertain...
Infection | Acute nephritic syndrome | Renal biopsy | Streptococcus | Acute postinfectious glomerulonephritis | Endocapillary proliferation | Complement | Immune complex
Infection | Acute nephritic syndrome | Renal biopsy | Streptococcus | Acute postinfectious glomerulonephritis | Endocapillary proliferation | Complement | Immune complex
Journal Article
Néphrologie & Thérapeutique, ISSN 1769-7255, 07/2012, Volume 8, Issue 4, pp. 247 - 258
Les glomérulonéphrites aiguës postinfectieuses sont définies par une agression inflammatoire aiguë non suppurative à prédominance glomérulaire. Leur incidence...
Biopsie rénale | Endocapillary proliferation | Glomérulonéphrite aiguë | Complexes immuns | Infections | Complement | Streptocoque | Infection | Acute nephritic syndrome | Renal biopsy | Streptococcus | Acute postinfectious glomerulonephritis | Complément | Prolifération endocapillaire | Syndrome néphritique aigu | Immune complex
Biopsie rénale | Endocapillary proliferation | Glomérulonéphrite aiguë | Complexes immuns | Infections | Complement | Streptocoque | Infection | Acute nephritic syndrome | Renal biopsy | Streptococcus | Acute postinfectious glomerulonephritis | Complément | Prolifération endocapillaire | Syndrome néphritique aigu | Immune complex
Journal Article