Genetic testing in steroid-resistant nephrotic syndrome: when and how?

Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome

(2015) Lwaki Ebarasi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

(2015) Noriko Miyake et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations ofWDR73

(2015) Robert N. Jinks et al.   BRAIN

Spectrum of Steroid-Resistant and Congenital Nephrotic Syndrome in Children: The PodoNet Registry Cohort

(2015) A. Trautmann et al.   Clinical Journal of the American Society of Nephrology

WDR73Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

(2015) Julia Vodopiutz et al.   HUMAN MUTATION

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

(2015) Heon Yung Gee et al.   JOURNAL OF CLINICAL INVESTIGATION

Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1

(2015) X. Wan et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

(2014) Heon Yung Gee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

(2014) Estelle Colin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome

(2014) S. Lovric et al.   Clinical Journal of the American Society of Nephrology

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis

(2014) J. Halbritter et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Heterogeneous Genetic Alterations in Sporadic Nephrotic Syndrome Associate with Resistance to Immunosuppression

(2014) S. Giglio et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

(2014) C. E. Sadowski et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mutations in the Gene That Encodes the F-Actin Binding Protein Anillin Cause FSGS

(2014) R. A. Gbadegesin et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome

(2014) Kálmán Tory et al.   NATURE GENETICS

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

(2013) Jan Halbritter et al.   HUMAN GENETICS

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

(2013) Heon Yung Gee et al.   JOURNAL OF CLINICAL INVESTIGATION

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

(2013) Shazia Ashraf et al.   JOURNAL OF CLINICAL INVESTIGATION

ARHGDIA: a novel gene implicated in nephrotic syndrome

(2013) Indra Rani Gupta et al.   JOURNAL OF MEDICAL GENETICS

LMX1B Mutations Cause Hereditary FSGS without Extrarenal Involvement

(2013) O. Boyer et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Genetic screening in adolescents with steroid-resistant nephrotic syndrome

(2013) Beata S. Lipska et al.   KIDNEY INTERNATIONAL

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Secondary Focal and Segmental Glomerulosclerosis Associated With Single-Nucleotide Polymorphisms in the Genes Encoding Complement Factor H and C3

(2012) Sanjeev Sethi et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

(2012) Jan Halbritter et al.   JOURNAL OF MEDICAL GENETICS

DGKE Variants Cause a Glomerular Microangiopathy That Mimics Membranoproliferative GN

(2012) F. Ozaltin et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Integrin α3Mutations with Kidney, Lung, and Skin Disease

(2012) Cristina Has et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome

(2011) Fatih Ozaltin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis

(2011) Shreeram Akilesh et al.   JOURNAL OF CLINICAL INVESTIGATION

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

(2011) Saskia F. Heeringa et al.   JOURNAL OF CLINICAL INVESTIGATION

Exome Sequencing Reveals Cubilin Mutation as a Single-Gene Cause of Proteinuria

(2011) B. Ovunc et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

INF2Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy

(2011) Olivia Boyer et al.   NEW ENGLAND JOURNAL OF MEDICINE

MYO1EMutations and Childhood Familial Focal Segmental Glomerulosclerosis

(2011) Caterina Mele et al.   NEW ENGLAND JOURNAL OF MEDICINE

Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes

(2010) Geneviève Benoit et al.   Annals of the New York Academy of Sciences

Genotype/Phenotype Correlation in Nephrotic Syndrome Caused by WT1 Mutations

(2010) G. Chernin et al.   Clinical Journal of the American Society of Nephrology

Exome sequencing: the sweet spot before whole genomes

(2010) J. K. Teer et al.   HUMAN MOLECULAR GENETICS

Genetic kidney diseases

(2010) Friedhelm Hildebrandt   LANCET

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

(2010) Edgar A Otto et al.   NATURE GENETICS

Individual Genomes on the Horizon

(2010) Richard P. Lifton   NEW ENGLAND JOURNAL OF MEDICINE

Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations

(2010) Geneviève Benoit et al.   PEDIATRIC NEPHROLOGY

TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFAT-dependent transcription

(2009) Johannes Schlöndorff et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier

(2009) Martin Zenker et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life

(2009) Friedhelm Hildebrandt et al.   KIDNEY INTERNATIONAL

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

(2009) Elizabeth J Brown et al.   NATURE GENETICS

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

(2009) Friedhelm Hildebrandt et al.   PLoS Genetics

Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

(2008) Samuel F. Berkovic et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Specific Podocin Mutations Correlate with Age of Onset in Steroid-Resistant Nephrotic Syndrome

(2008) B. Hinkes et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Early Coenzyme Q10 Supplementation in Primary Coenzyme Q10 Deficiency

(2008) Giovanni Montini et al.   NEW ENGLAND JOURNAL OF MEDICINE

Familial forms of nephrotic syndrome

(2008) Gianluca Caridi et al.   PEDIATRIC NEPHROLOGY