Molecular and Cellular Biochemistry, ISSN 0300-8177, 2/2017, Volume 426, Issue 1, pp. 177 - 181
Nephrotic syndrome (NS) is a kidney disease predominantly present in children with idiopathic condition; final stage of the disease progresses into end-stage...
Life Sciences | Biochemistry, general | SRNS | Wilms’ tumor | NPHS2 | NS | FSGS | Medical Biochemistry | Oncology | Cardiology | Indian children | R229Q | Wilms' tumor | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | VARIANT | CHILDREN | CELL BIOLOGY | WT1 Proteins - metabolism | Frameshift Mutation | Podocytes - metabolism | Membrane Proteins - genetics | Humans | Nephrotic Syndrome - metabolism | Child, Preschool | Nephrotic Syndrome - pathology | Male | Intracellular Signaling Peptides and Proteins - metabolism | Nephrotic Syndrome - genetics | Mutation, Missense | Nephrotic Syndrome - drug therapy | Podocytes - pathology | Drug Resistance - genetics | Female | Membrane Proteins - metabolism | Steroids - therapeutic use | Child | Intracellular Signaling Peptides and Proteins - genetics | WT1 Proteins - genetics | Development and progression | Genetic aspects | Nephrotic syndrome | Chronic kidney failure | Gene mutations | Genes | Studies | Nephrology | Analysis | Biochemistry | Kidney diseases | Mutation | Children & youth | Tumors
Life Sciences | Biochemistry, general | SRNS | Wilms’ tumor | NPHS2 | NS | FSGS | Medical Biochemistry | Oncology | Cardiology | Indian children | R229Q | Wilms' tumor | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | VARIANT | CHILDREN | CELL BIOLOGY | WT1 Proteins - metabolism | Frameshift Mutation | Podocytes - metabolism | Membrane Proteins - genetics | Humans | Nephrotic Syndrome - metabolism | Child, Preschool | Nephrotic Syndrome - pathology | Male | Intracellular Signaling Peptides and Proteins - metabolism | Nephrotic Syndrome - genetics | Mutation, Missense | Nephrotic Syndrome - drug therapy | Podocytes - pathology | Drug Resistance - genetics | Female | Membrane Proteins - metabolism | Steroids - therapeutic use | Child | Intracellular Signaling Peptides and Proteins - genetics | WT1 Proteins - genetics | Development and progression | Genetic aspects | Nephrotic syndrome | Chronic kidney failure | Gene mutations | Genes | Studies | Nephrology | Analysis | Biochemistry | Kidney diseases | Mutation | Children & youth | Tumors
Journal Article
Indian Journal of Practical Pediatrics, ISSN 0972-9607, 04/2012, Volume 14, Issue 2, pp. 190 - 198
Journal Article
Open Urology and Nephrology Journal, ISSN 1874-303X, 2014, Volume 7, Issue 1, pp. 67 - 70
Obstructive uropathy represents one of the largest fractions of identifiable causes of renal failure in pediatric populations. This is one of the largest...
Children | Pyeloplasty | Hydronephrosis | Pelviureteric junction obstruction
Children | Pyeloplasty | Hydronephrosis | Pelviureteric junction obstruction
Journal Article
Human Genetics, ISSN 0340-6717, 10/2019, Volume 138, Issue 10, pp. 1105 - 1115
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease (~ 45%) that manifests before 30 years of age....
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | VESICOURETERAL REFLUX | DISEASES | 13Q DELETION SYNDROME | URINARY-TRACT | GENETICS & HEREDITY | PHENOTYPE | CONGENITAL-ANOMALIES | KIDNEY | ASSOCIATION | LOCUS | CRITICAL REGION | Genetic aspects | Genetic disorders | Chronic kidney failure | Glycine | Phenotypes | Nephronophthisis | Kidneys | Congenital defects | Retina | Nephrotic syndrome | Urinary tract | Arteries | Missense mutation | Collagen | Chromosome 13 | Mutation | Kidney diseases
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | VESICOURETERAL REFLUX | DISEASES | 13Q DELETION SYNDROME | URINARY-TRACT | GENETICS & HEREDITY | PHENOTYPE | CONGENITAL-ANOMALIES | KIDNEY | ASSOCIATION | LOCUS | CRITICAL REGION | Genetic aspects | Genetic disorders | Chronic kidney failure | Glycine | Phenotypes | Nephronophthisis | Kidneys | Congenital defects | Retina | Nephrotic syndrome | Urinary tract | Arteries | Missense mutation | Collagen | Chromosome 13 | Mutation | Kidney diseases
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2018, Volume 13, Issue 1, p. e0191224
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause (40-50%) of chronic kidney disease (CKD) in children. About 40 monogenic...
Immunohistochemistry | Chronic kidney failure | Analysis | Exome sequencing | Genetic aspects | Research | Mutation (Biology)
Immunohistochemistry | Chronic kidney failure | Analysis | Exome sequencing | Genetic aspects | Research | Mutation (Biology)
Journal Article
Indian Journal of Medical Research, ISSN 0971-5916, 2016, Volume 144, Issue August, pp. 276 - 280
Background & objectives: Clinically, nephrotic syndrome (NS) is a diverse group of symptoms; about 20 per cent of NS cases are resistant to steroid treatment,...
Denys-drash syndrome | Wilms’ tumour 1 | Frasier syndrome | Steroid-resistant nephrotic syndrome | Focal segmental glomerulosclerosis | Indian children | MEDICINE, RESEARCH & EXPERIMENTAL | ASSOCIATIONS | MANAGEMENT | WILMS-TUMOR-1 GENE | Wilms' tumour 1 | PHENOTYPE | PREVALENCE | IMMUNOLOGY | focal segmental glomerulosclerosis | Denys-Drash syndrome | MEDICINE, GENERAL & INTERNAL | WT1 GENE | steroid-resistant nephrotic syndrome | DISEASES | SPLICE-SITE MUTATION | GONADAL-DYSGENESIS | FRASIER-SYNDROME | Glomerulosclerosis, Focal Segmental - genetics | Humans | Kidney Failure, Chronic - drug therapy | Child, Preschool | Gonads - pathology | Nephrotic Syndrome - pathology | Male | Nephrotic Syndrome - genetics | Nephrotic Syndrome - drug therapy | Drug Resistance - genetics | Kidney Failure, Chronic - pathology | Glomerulosclerosis, Focal Segmental - drug therapy | Female | Steroids - therapeutic use | Mutation | Gonads - surgery | Child | WT1 Proteins - genetics | Glomerulosclerosis, Focal Segmental - pathology | Gene mutations | Genetic aspects | Nephrotic syndrome | Children | Nephroblastoma | Health aspects | Diseases | Genotype & phenotype | Nephrology | Biopsy | Boys | Females | Girls | Deoxyribonucleic acid--DNA | Age | Children & youth | Original | Denys-Drash syndrome - focal segmental glomerulosclerosis - Frasier syndrome - Indian children - steroid-resistant nephrotic syndrome - Wilms′ tumour 1
Denys-drash syndrome | Wilms’ tumour 1 | Frasier syndrome | Steroid-resistant nephrotic syndrome | Focal segmental glomerulosclerosis | Indian children | MEDICINE, RESEARCH & EXPERIMENTAL | ASSOCIATIONS | MANAGEMENT | WILMS-TUMOR-1 GENE | Wilms' tumour 1 | PHENOTYPE | PREVALENCE | IMMUNOLOGY | focal segmental glomerulosclerosis | Denys-Drash syndrome | MEDICINE, GENERAL & INTERNAL | WT1 GENE | steroid-resistant nephrotic syndrome | DISEASES | SPLICE-SITE MUTATION | GONADAL-DYSGENESIS | FRASIER-SYNDROME | Glomerulosclerosis, Focal Segmental - genetics | Humans | Kidney Failure, Chronic - drug therapy | Child, Preschool | Gonads - pathology | Nephrotic Syndrome - pathology | Male | Nephrotic Syndrome - genetics | Nephrotic Syndrome - drug therapy | Drug Resistance - genetics | Kidney Failure, Chronic - pathology | Glomerulosclerosis, Focal Segmental - drug therapy | Female | Steroids - therapeutic use | Mutation | Gonads - surgery | Child | WT1 Proteins - genetics | Glomerulosclerosis, Focal Segmental - pathology | Gene mutations | Genetic aspects | Nephrotic syndrome | Children | Nephroblastoma | Health aspects | Diseases | Genotype & phenotype | Nephrology | Biopsy | Boys | Females | Girls | Deoxyribonucleic acid--DNA | Age | Children & youth | Original | Denys-Drash syndrome - focal segmental glomerulosclerosis - Frasier syndrome - Indian children - steroid-resistant nephrotic syndrome - Wilms′ tumour 1
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 01/2017, Volume 28, Issue 1, pp. 69 - 75
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the leading cause of CKD in children, featuring a broad variety of malformations. A monogenic...
PRIMARY HYPEROXALURIA | MALFORMATIONS | GENE | CILIOPATHIES | CLINICAL PRESENTATION | ABNORMALITIES | WOLFRAM-SYNDROME | DISEASE | RECESSIVE MUTATIONS | CYSTINOSIS | UROLOGY & NEPHROLOGY | Vesico-Ureteral Reflux - genetics | Exome - genetics | Phenotype | Humans | Mutation | Syndrome | Urogenital Abnormalities - genetics | monogenic disease | CAKUT | WES | Brief Communications
PRIMARY HYPEROXALURIA | MALFORMATIONS | GENE | CILIOPATHIES | CLINICAL PRESENTATION | ABNORMALITIES | WOLFRAM-SYNDROME | DISEASE | RECESSIVE MUTATIONS | CYSTINOSIS | UROLOGY & NEPHROLOGY | Vesico-Ureteral Reflux - genetics | Exome - genetics | Phenotype | Humans | Mutation | Syndrome | Urogenital Abnormalities - genetics | monogenic disease | CAKUT | WES | Brief Communications
Journal Article
Journal of Family and Community Medicine, ISSN 2229-340X, 01/2017, Volume 24, Issue 1, pp. 56 - 56
Journal Article
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia, ISSN 1319-2442, 01/2013, Volume 24, Issue 1, pp. 139 - 140
Tertiary Care Centers | Follow-Up Studies | Kidney - pathology | Humans | Infant | Male | India | Biopsy | Female | Disease Management | Nephrotic Syndrome - therapy | Retrospective Studies | Nephrotic Syndrome - diagnosis | Care and treatment | Patient outcomes | Nephrotic syndrome | Genetic aspects | Diagnosis | Children | Diseases
Journal Article
Journal of Hypertension, ISSN 0263-6352, 05/2013, Volume 31, Issue 5, pp. 993 - 1000
OBJECTIVE:To evaluate a dose-dependent reduction in blood pressure (BP) and overall safety of valsartan in hypertensive children. METHOD:In a multicenter,...
children | valsartan | hypertension | LEFT-VENTRICULAR HYPERTROPHY | II RECEPTOR BLOCKERS | BLOOD-PRESSURE | OBESITY | PHARMACOKINETICS | ADOLESCENTS | DOUBLE-BLIND | PERIPHERAL VASCULAR DISEASE | CANDESARTAN CILEXETIL | VALSARTAN/HYDROCHLOROTHIAZIDE | Double-Blind Method | Valsartan | Angiotensin II Type 1 Receptor Blockers - therapeutic use | Humans | Valine - analogs & derivatives | Child, Preschool | Hypertension - drug therapy | Infant | Male | Antihypertensive Agents - therapeutic use | Female | Tetrazoles - therapeutic use | Valine - therapeutic use | Tetrazoles - adverse effects | Valine - adverse effects
children | valsartan | hypertension | LEFT-VENTRICULAR HYPERTROPHY | II RECEPTOR BLOCKERS | BLOOD-PRESSURE | OBESITY | PHARMACOKINETICS | ADOLESCENTS | DOUBLE-BLIND | PERIPHERAL VASCULAR DISEASE | CANDESARTAN CILEXETIL | VALSARTAN/HYDROCHLOROTHIAZIDE | Double-Blind Method | Valsartan | Angiotensin II Type 1 Receptor Blockers - therapeutic use | Humans | Valine - analogs & derivatives | Child, Preschool | Hypertension - drug therapy | Infant | Male | Antihypertensive Agents - therapeutic use | Female | Tetrazoles - therapeutic use | Valine - therapeutic use | Tetrazoles - adverse effects | Valine - adverse effects
Journal Article
Journal of Family and Community Medicine, ISSN 2230-8229, 01/2016, Volume 23, Issue 1, pp. 38 - 42
Background: Since the data of primary hypertension (HT) in children is scanty in India, this study attempted to evaluate HT by a multidimensional investigation...
Children | hypertension | obesity | Indian adolescents
Children | hypertension | obesity | Indian adolescents
Journal Article
Journal of biomedical research, ISSN 1674-8301, 06/2019, Volume 33, Issue 3, pp. 201 - 207
Nephrotic syndrome is one of the most common childhood kidney diseases. It is mostly found in the age group of 2 to 8 years. Around 10%-15% of nephrotic...
minimal change disease | angiotensin converting enzyme | focal segmental glomerulosclerosis | Original | nephrotic syndrome
minimal change disease | angiotensin converting enzyme | focal segmental glomerulosclerosis | Original | nephrotic syndrome
Journal Article
PloS one, 2018, Volume 13, Issue 1, p. e0191224
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause (40-50%) of chronic kidney disease (CKD) in children. About 40 monogenic...
Vesico-Ureteral Reflux - genetics | Exons | Humans | Male | Mutation, Missense | Urogenital System - growth & development | Gene Expression Regulation, Developmental | Conserved Sequence | Models, Animal | Child | Extracellular Matrix Proteins - metabolism | Animals, Newborn | Amino Acid Sequence | Extracellular Matrix Proteins - genetics | Models, Molecular | Fraser Syndrome - genetics | Sequence Homology, Amino Acid | Homozygote | Urogenital System - metabolism | Animals | Pedigree | Biomarkers, Tumor - genetics | Consanguinity | Mice | Biomarkers, Tumor - chemistry | Amino Acid Substitution | Urogenital Abnormalities - genetics
Vesico-Ureteral Reflux - genetics | Exons | Humans | Male | Mutation, Missense | Urogenital System - growth & development | Gene Expression Regulation, Developmental | Conserved Sequence | Models, Animal | Child | Extracellular Matrix Proteins - metabolism | Animals, Newborn | Amino Acid Sequence | Extracellular Matrix Proteins - genetics | Models, Molecular | Fraser Syndrome - genetics | Sequence Homology, Amino Acid | Homozygote | Urogenital System - metabolism | Animals | Pedigree | Biomarkers, Tumor - genetics | Consanguinity | Mice | Biomarkers, Tumor - chemistry | Amino Acid Substitution | Urogenital Abnormalities - genetics
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 2018, Volume 29, Issue 9, pp. 2348 - 2361
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most prevalent cause of kidney disease in the first three decades of life....
VESICOURETERAL REFLUX | CAKUT | RESISTANT NEPHROTIC SYNDROME | RENAL AGENESIS | RECESSIVE MUTATIONS | AMERICAN-COLLEGE | UROLOGY & NEPHROLOGY | MEDICAL GENETICS | CANDIDATE GENE | BRANCHIOOTORENAL SYNDROME | CLINICAL EXOME | Whole Exome Sequencing (WES) | monogenic disease causation | Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) | renal developmental gene | Vesico-ureteral Reflux (VUR) | Basic Research
VESICOURETERAL REFLUX | CAKUT | RESISTANT NEPHROTIC SYNDROME | RENAL AGENESIS | RECESSIVE MUTATIONS | AMERICAN-COLLEGE | UROLOGY & NEPHROLOGY | MEDICAL GENETICS | CANDIDATE GENE | BRANCHIOOTORENAL SYNDROME | CLINICAL EXOME | Whole Exome Sequencing (WES) | monogenic disease causation | Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) | renal developmental gene | Vesico-ureteral Reflux (VUR) | Basic Research
Journal Article
Nephrology, ISSN 1320-5358, 09/2016, Volume 21, Issue 9, pp. 745 - 752
Journal Article
Open Urology and Nephrology Journal, ISSN 1874-303X, 2014, Volume 7, Issue 1, pp. 105 - 107
Human immunodeficiency virus-associated nephropathy (HIVAN) in children has not been reported in India. In a single centre study, we analyzed 8 children...
Nephritic syndrome | Human immunodeficiency virus-associated nephropathy | Collapsing glomerulopathy | Indian children
Nephritic syndrome | Human immunodeficiency virus-associated nephropathy | Collapsing glomerulopathy | Indian children
Journal Article
Journal of Family & Community Medicine, ISSN 1319-1683, 2017, Volume 24, Issue 1, pp. 56 - 56
Journal Article
Nephrology, ISSN 1320-5358, 09/2016, Volume 21, Issue 9, pp. 745 - 752
Background Nephrotic syndrome (NS) is a debilitating renal problem in children resulting from an interaction between environmental and genetic factors...
south Indian children | steroid resistant nephrotic syndrome | focal segmental glomerulosclerosis | Extended haplotype | human leukocyte antigen | nephrotic syndrome | POPULATION | PRIMERS PCR-SSP | PEPTIDE-BINDING | TAMIL-NADU | SOUTH-INDIA | ANTIGENS | NEPHROPATHY | CHILDREN | CLASS-I | UROLOGY & NEPHROLOGY | HLA-DQ beta-Chains - immunology | Haplotypes | Glucocorticoids - therapeutic use | Glomerulosclerosis, Focal Segmental - genetics | Humans | Child, Preschool | Male | Nephrotic Syndrome - genetics | HLA-DQ beta-Chains - genetics | Nephrotic Syndrome - drug therapy | Nephrotic Syndrome - congenital | Case-Control Studies | Glomerulosclerosis, Focal Segmental - drug therapy | Polymerase Chain Reaction | Nephrosis, Lipoid - drug therapy | Female | Prednisolone - therapeutic use | Child | Nephrotic Syndrome - diagnosis | Genetic Predisposition to Disease | Nephrosis, Lipoid - diagnosis | Genetic Association Studies | HLA-DRB1 Chains - genetics | Gene Frequency | HLA-DRB1 Chains - immunology | Risk Factors | Treatment Outcome | Genetic Markers | Nephrosis, Lipoid - genetics | Remission Induction | India | Glomerulosclerosis, Focal Segmental - diagnosis | Nephrotic Syndrome - immunology | Phenotype | Biopsy | Glomerulosclerosis, Focal Segmental - immunology | Nephrosis, Lipoid - immunology | Sex Factors | Allelomorphism | Nephrotic syndrome | Histocompatibility antigens | HLA histocompatibility antigens
south Indian children | steroid resistant nephrotic syndrome | focal segmental glomerulosclerosis | Extended haplotype | human leukocyte antigen | nephrotic syndrome | POPULATION | PRIMERS PCR-SSP | PEPTIDE-BINDING | TAMIL-NADU | SOUTH-INDIA | ANTIGENS | NEPHROPATHY | CHILDREN | CLASS-I | UROLOGY & NEPHROLOGY | HLA-DQ beta-Chains - immunology | Haplotypes | Glucocorticoids - therapeutic use | Glomerulosclerosis, Focal Segmental - genetics | Humans | Child, Preschool | Male | Nephrotic Syndrome - genetics | HLA-DQ beta-Chains - genetics | Nephrotic Syndrome - drug therapy | Nephrotic Syndrome - congenital | Case-Control Studies | Glomerulosclerosis, Focal Segmental - drug therapy | Polymerase Chain Reaction | Nephrosis, Lipoid - drug therapy | Female | Prednisolone - therapeutic use | Child | Nephrotic Syndrome - diagnosis | Genetic Predisposition to Disease | Nephrosis, Lipoid - diagnosis | Genetic Association Studies | HLA-DRB1 Chains - genetics | Gene Frequency | HLA-DRB1 Chains - immunology | Risk Factors | Treatment Outcome | Genetic Markers | Nephrosis, Lipoid - genetics | Remission Induction | India | Glomerulosclerosis, Focal Segmental - diagnosis | Nephrotic Syndrome - immunology | Phenotype | Biopsy | Glomerulosclerosis, Focal Segmental - immunology | Nephrosis, Lipoid - immunology | Sex Factors | Allelomorphism | Nephrotic syndrome | Histocompatibility antigens | HLA histocompatibility antigens
Journal Article
Journal of Family & Community Medicine, ISSN 1319-1683, 2016, Volume 23, Issue 1, pp. 38 - 42
Journal Article
Indian Pediatrics, ISSN 0019-6061, 03/2008, Volume 45, Issue 3, pp. 203 - 214
Justification: In 200 1, the Indian Pediatric Nephrology Group formulated guidelines for management of patients with steroid sensitive nephrotic syndrome. In...
Recommendations | Practice guidelines | Nephrotic syndrome | THERAPY | practice guidelines | PEDIATRICS | recommendations | PREDNISOLONE | nephrotic syndrome | MYCOPHENOLATE-MOFETIL | CHILDREN | CYCLOSPORINE | LEVAMISOLE | Recurrence | Glucocorticoids - therapeutic use | Humans | Nephrotic Syndrome - drug therapy | Cyclophosphamide - therapeutic use | Levamisole - therapeutic use | Mycophenolic Acid - analogs & derivatives | Mycophenolic Acid - therapeutic use | Treatment Failure | Nutritional Status | Prednisolone - therapeutic use | Adjuvants, Immunologic - therapeutic use | Prednisone - therapeutic use
Recommendations | Practice guidelines | Nephrotic syndrome | THERAPY | practice guidelines | PEDIATRICS | recommendations | PREDNISOLONE | nephrotic syndrome | MYCOPHENOLATE-MOFETIL | CHILDREN | CYCLOSPORINE | LEVAMISOLE | Recurrence | Glucocorticoids - therapeutic use | Humans | Nephrotic Syndrome - drug therapy | Cyclophosphamide - therapeutic use | Levamisole - therapeutic use | Mycophenolic Acid - analogs & derivatives | Mycophenolic Acid - therapeutic use | Treatment Failure | Nutritional Status | Prednisolone - therapeutic use | Adjuvants, Immunologic - therapeutic use | Prednisone - therapeutic use
Journal Article
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