Friedhelm Hildebrandt, MD
Chief, Division of Nephrology
Professor of Pediatrics, Harvard Medical School
Image
Friedhelm Hildebrandt, MD
Chief, Division of Nephrology
Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
German
Education
Medical School
Heidelberg University Medical School
1982
Heidelberg
Germany
Residency
Marburg University Children's Hospital
1985
Marburg
Germany
Fellowship
Pediatric Nephrology
Marburg University Children's Hospital
1987
Marburg
Germany
Fellowship
Research
Yale University School of Medicine
1990
New Haven
CT
Professional History
Dr. Hildebrandt serves as an expert for the Department of Nephrology for Boston Children's Hospital Precision Medicine Service. For more information about the Precision Medicine Service please visit bostonchildrens.org/precisionmed.
Publications
Trio exome sequencing in individuals with CAKUT identifies de novo variants in potential novel candidate genes in 19.62. View Abstract
The contribution of de novo coding mutations to meningomyelocele. View Abstract
Mesoscale landscaping of the TRIM protein family reveals a novel human condensatopathy. View Abstract
Epigenomic and phenotypic characterization of DEGCAGS syndrome. View Abstract
Advanced CKD of Uncertain Etiology Among Children in Guatemala: Genetic and Clinical Characteristics. View Abstract
Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy. View Abstract
Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population. View Abstract
Genetic Contributions to Lower Urinary Tract Dysfunction. View Abstract
The evolving landscape of monogenic nephrolithiasis and therapeutic innovations. View Abstract
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants. View Abstract
Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review. View Abstract
Phenotypic quantification of Nphs1-deficient mice. View Abstract
Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type. View Abstract
Correction to: Phenotypic quantification of Nphs1-deficient mice. View Abstract
Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease. View Abstract
Genome Sequencing for Diagnosing Rare Diseases. View Abstract
Ancient eukaryotic protein interactions illuminate modern genetic traits and disorders. View Abstract
Pathogenic PHIP Variants are Variably Associated With CAKUT. View Abstract
Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease. View Abstract
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. View Abstract
Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome. View Abstract
Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment. View Abstract
Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies. View Abstract
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. View Abstract
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT). View Abstract
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. View Abstract
Nephronophthisis: a pathological and genetic perspective. View Abstract
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. View Abstract
Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions. View Abstract
Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families. View Abstract
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. View Abstract
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. View Abstract
The genetics and pathogenesis of CAKUT. View Abstract
Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney. View Abstract
LRRC6 regulates biogenesis of motile cilia by aiding FOXJ1 translocation into the nucleus. View Abstract
Recessive CHRM5 variant as a potential cause of neurogenic bladder. View Abstract
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome. View Abstract
Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes. View Abstract
Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT). View Abstract
Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2?years of life. View Abstract
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. View Abstract
A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract. View Abstract
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis. View Abstract
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems. View Abstract
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C. View Abstract
Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract. View Abstract
Steroid-Resistant Nephrotic Syndrome-Associated MYO1E Mutations Have Differential Effects on Myosin 1e Localization, Dynamics, and Activity. View Abstract
Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract. View Abstract
Limbal BCAM expression identifies a proliferative progenitor population capable of holoclone formation and corneal differentiation. View Abstract
PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan. View Abstract
Activation of 2-oxoglutarate receptor 1 (OXGR1) by a-ketoglutarate (aKG) does not detectably stimulate Pendrin-mediated anion exchange in Xenopus oocytes. View Abstract
A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner. View Abstract
Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype. View Abstract
Inhibition of endoplasmic reticulum stress signaling rescues cytotoxicity of human apolipoprotein-L1 risk variants in Drosophila. View Abstract
The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project. View Abstract
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models. View Abstract
Proteomic analysis identifies ZMYM2 as endogenous binding partner of TBX18 protein in 293 and A549 cells. View Abstract
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT. View Abstract
Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis. View Abstract
Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria. View Abstract
Corrigendum: Immunological Impact of a Gluten-Free Dairy-Free Diet in Children With Kidney Disease: A Feasibility Study. View Abstract
Deep learning is widely applicable to phenotyping embryonic development and disease. View Abstract
Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease. View Abstract
A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract. View Abstract
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression. View Abstract
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes. View Abstract
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families. View Abstract
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia. View Abstract
Immunological Impact of a Gluten-Free Dairy-Free Diet in Children With Kidney Disease: A Feasibility Study. View Abstract
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency. View Abstract
A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS. View Abstract
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux. View Abstract
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. View Abstract
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. View Abstract
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. View Abstract
Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans. View Abstract
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. View Abstract
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches. View Abstract
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. View Abstract
Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome. View Abstract
Loss of Anks6 leads to YAP deficiency and liver abnormalities. View Abstract
Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease. View Abstract
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. View Abstract
Podocytopathies. View Abstract
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. View Abstract
Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment. View Abstract
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT). View Abstract
ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment. View Abstract
Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation. View Abstract
PLCE1 regulates the migration, proliferation, and differentiation of podocytes. View Abstract
Personalized medicine in chronic kidney disease by detection of monogenic mutations. View Abstract
PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly. View Abstract
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome. View Abstract
Utility of Genomic Testing after Renal Biopsy. View Abstract
TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome. View Abstract
Healthcare recommendations for Joubert syndrome. View Abstract
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. View Abstract
Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. View Abstract
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome. View Abstract
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome. View Abstract
Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies. View Abstract
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. View Abstract
Paralog Studies Augment Gene Discovery: DDX and DHX Genes. View Abstract
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. View Abstract
Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys. View Abstract
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. View Abstract
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children. View Abstract
Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract. View Abstract
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature. View Abstract
Disruption of MAGI2-RapGEF2-Rap1 signaling contributes to podocyte dysfunction in congenital nephrotic syndrome caused by mutations in MAGI2. View Abstract
HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. View Abstract
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. View Abstract
Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout. View Abstract
Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children. View Abstract
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. View Abstract
Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis. View Abstract
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis. View Abstract
Monogenic causes of chronic kidney disease in adults. View Abstract
Treatment with 2,4-Dihydroxybenzoic Acid Prevents FSGS Progression and Renal Fibrosis in Podocyte-Specific Coq6 Knockout Mice. View Abstract
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. View Abstract
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. View Abstract
The copy number variation landscape of congenital anomalies of the kidney and urinary tract. View Abstract
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype. View Abstract
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. View Abstract
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. View Abstract
The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development. View Abstract
Effects of Diet and Social Housing on Reproductive Success in Adult Zebrafish, Danio rerio. View Abstract
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. View Abstract
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants. View Abstract
GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. View Abstract
Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations. View Abstract
A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes. View Abstract
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. View Abstract
ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. View Abstract
Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ˜43% of 35 Families With Midaortic Syndrome. View Abstract
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. View Abstract
Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model. View Abstract
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function. View Abstract
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. View Abstract
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. View Abstract
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. View Abstract
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. View Abstract
Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract. View Abstract
Advillin acts upstream of phospholipase C ?1 in steroid-resistant nephrotic syndrome. View Abstract
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. View Abstract
Osteoclast stimulation factor 1 (Ostf1) KNOCKOUT increases trabecular bone mass in mice. View Abstract
Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center. View Abstract
Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature. View Abstract
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. View Abstract
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. View Abstract
Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report. View Abstract
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. View Abstract
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling. View Abstract
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. View Abstract
Ciliopathies. View Abstract
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. View Abstract
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. View Abstract
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. View Abstract
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. View Abstract
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. View Abstract
Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte. View Abstract
Personalized Comments on Challenges and Opportunities in Kidney Disease Therapeutics: The Glom-NExT Symposium. View Abstract
Genetics of Kidney Diseases. View Abstract
A small molecule screening to detect potential therapeutic targets in human podocytes. View Abstract
Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease. View Abstract
Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. View Abstract
SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling. View Abstract
Mutations in SLC26A1 Cause Nephrolithiasis. View Abstract
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. View Abstract
Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract. View Abstract
A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis. View Abstract
FAT1 mutations cause a glomerulotubular nephropathy. View Abstract
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. View Abstract
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype. View Abstract
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. View Abstract
Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract. View Abstract
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. View Abstract
Exploring the genetic basis of early-onset chronic kidney disease. View Abstract
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. View Abstract
A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. View Abstract
Genetic testing in steroid-resistant nephrotic syndrome: when and how? View Abstract
MKS1 regulates ciliary INPP5E levels in Joubert syndrome. View Abstract
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization. View Abstract
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. View Abstract
Decade in review--genetics of kidney diseases: Genetic dissection of kidney disorders. View Abstract
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. View Abstract
Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1. View Abstract
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. View Abstract
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. View Abstract
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. View Abstract
Phospholipase C epsilon (PLCe) induced TRPC6 activation: a common but redundant mechanism in primary podocytes. View Abstract
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. View Abstract
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. View Abstract
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. View Abstract
The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees. View Abstract
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. View Abstract
Gene mutation analysis in Iranian children with nephronophthisis: a two-center study. View Abstract
Clinical Features and Histology of Apolipoprotein L1-Associated Nephropathy in the FSGS Clinical Trial. View Abstract
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. View Abstract
Defects of CRB2 cause steroid-resistant nephrotic syndrome. View Abstract
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. View Abstract
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. View Abstract
Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition. View Abstract
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. View Abstract
SDCCAG8 regulates pericentriolar material recruitment and neuronal migration in the developing cortex. View Abstract
Diverse phenotypic expression of NPHP4 mutations in four siblings. View Abstract
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. View Abstract
Mutations in EMP2 cause childhood-onset nephrotic syndrome. View Abstract
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome. View Abstract
Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling. View Abstract
Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. View Abstract
Pediatric kidney disease: tracking onset and improving clinical outcomes. View Abstract
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. View Abstract
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. View Abstract
Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans. View Abstract
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. View Abstract
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. View Abstract
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. View Abstract
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. View Abstract
Karyomegalic interstitial nephritis. View Abstract
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. View Abstract
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. View Abstract
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. View Abstract
DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN. View Abstract
The Case. Unusual cause of chronic renal failure with elevated liver enzymes. View Abstract
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. View Abstract
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. View Abstract
Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients. View Abstract
Integrin a3 mutations with kidney, lung, and skin disease. View Abstract
Inducible podocyte injury and proteinuria in transgenic zebrafish. View Abstract
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. View Abstract
Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD. View Abstract
Spectrum of clinical diseases caused by disorders of primary cilia. View Abstract
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. View Abstract
Centrosomes and cilia in human disease. View Abstract
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. View Abstract
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. View Abstract
Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation. View Abstract
Homozygosity mapping on a single patient: identification of homozygous regions of recent common ancestry by using population data. View Abstract
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. View Abstract
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. View Abstract
Characterization of mesonephric development and regeneration using transgenic zebrafish. View Abstract
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. View Abstract
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. View Abstract
Nephronophthisis. View Abstract
Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas. View Abstract
Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations. View Abstract
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. View Abstract
Nephrocystin-3 is required for ciliary function in zebrafish embryos. View Abstract
Genetic kidney diseases. View Abstract
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. View Abstract
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. View Abstract
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. View Abstract
A novel TRPC6 mutation that causes childhood FSGS. View Abstract
Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome. View Abstract
HomozygosityMapper--an interactive approach to homozygosity mapping. View Abstract
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. View Abstract
Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life. View Abstract
Molecular cloning and expression of phospholipase C epsilon 1 in zebrafish. View Abstract
Jouberin localizes to collecting ducts and interacts with nephrocystin-1. View Abstract
Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome. View Abstract
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. View Abstract
Cyclosporin A is superior to cyclophosphamide in children with steroid-resistant nephrotic syndrome-a randomized controlled multicentre trial by the Arbeitsgemeinschaft für Pädiatrische Nephrologie. View Abstract
Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct. View Abstract
Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. View Abstract
Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations. View Abstract
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). View Abstract
Eye involvement in children with primary focal segmental glomerulosclerosis. View Abstract
Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3. View Abstract
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. View Abstract
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. View Abstract
Nephronophthisis-associated ciliopathies. View Abstract
Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). View Abstract
Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome. View Abstract
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. View Abstract
Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis. View Abstract
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. View Abstract
Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9. View Abstract
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. View Abstract
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. View Abstract
Multiple urinary tract malformations with likely recessive inheritance in a large Somalian kindred. View Abstract
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. View Abstract
Medullary cystic kidney disease type 1 in a large Native-American kindred. View Abstract
Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome. View Abstract
NPHS2 mutation associated with recurrence of proteinuria after transplantation. View Abstract
Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. View Abstract
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. View Abstract
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. View Abstract
A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2. View Abstract
Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. View Abstract
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. View Abstract
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. View Abstract
Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. View Abstract
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. View Abstract
Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? View Abstract
Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood. View Abstract
Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice. View Abstract
Molecular genetics of nephronophthisis and medullary cystic kidney disease. View Abstract
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. View Abstract
Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans. View Abstract
A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. View Abstract
A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. View Abstract
Locations