Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Bernward Hinkes, Roger C. Wiggins, Rasheed Gbadegesin, +42

Nature Genetics

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseMolecular Biology +5

Nephrotic Syndrome in the First Year of Life: Two Thirds of Cases Are Caused by Mutations in 4 Genes (<i>NPHS1</i>, <i>NPHS2</i>, <i>WT1</i>, and <i>LAMB2</i>)

Bernward Hinkes, Bettina E. Mucha, Christopher N. Vlangos, +7

PEDIATRICS

Patients with Mutations in NPHS2 (Podocin) Do Not Respond to Standard Steroid Treatment of Nephrotic Syndrome

Rainer Ruf, Anne Lichtenberger, Stephanie M. Karle, +12

Journal of the American Society of Nephrology

GeneticsRenal PathologyGenetic EpidemiologyPathologyGlomerulonephritis +15

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

K Hasselbacher, Roger C. Wiggins, Verena Matejas, +15

Kidney International

Mendelian DisorderGenetic DisorderAnimal ScienceGeneticsPathogenesis +10

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

Bernward Hinkes, Christopher N. Vlangos, Saskia F. Heeringa, +6

Journal of the American Society of Nephrology

Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome

Rainer Ruf, Michael Schultheiß, Anne Lichtenberger, +13

Kidney International

UrologyGenetic DisorderMedicineWt1 MutationsInherited Metabolic Disease +10

Mutations in the Wilms' Tumor 1 Gene Cause Isolated Steroid Resistant Nephrotic Syndrome and Occur in Exons 8 and 9

Bettina E. Mucha, Fatih Özaltın, Bernward Hinkes, +10

Pediatric Research

UrologySomatic VariantMendelian DisorderGenetic DisorderGenetics +7

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains

Matthias T. F. Wolf, Bettina E. Mucha, Massimo Attanasio, +10

Kidney International

Mendelian DisorderGenetic DisorderReceptor Tyrosine KinasePathologyMckd Type 2 +6

No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations

Michael Schultheiß, Rainer Ruf, Bettina E. Mucha, +4

Pediatric Nephrology

Genotype/phenotype CorrelationGenetic DisorderGeneticsHuman PolymorphismStatistical Genetics +2

Recessive NPHS2 (Podocin) Mutations Are Rare in Adult-Onset Idiopathic Focal Segmental Glomerulosclerosis

Ning He, Alireza Zahirieh, Yan Mei, +8

Clinical Journal of the American Society of Nephrology

Glomerular DiseaseGeneticsGenetic EpidemiologyPathologyDisease Gene Identification +14