PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta-Helix 1 Repeats

Luiz F. Onuchic, Laszlo Furu, Yasuyuki Nagasawa, +15

The American Journal of Human Genetics

Signaling PathwayAutoimmune DiseaseDisease MechanismKidney ResearchLiver Physiology +11

NPHS2 mutation analysis shows genetic heterogeneityof steroid-resistant nephrotic syndrome and lowpost-transplant recurrence

Stefanie Weber, Olivier Gribouval, Ernie Esquivel, +5

Kidney International

UrologyKidney TransplantGenetic DisorderMedicineGenetics +8

Nephrin Mutations Can Cause Childhood-Onset Steroid-Resistant Nephrotic Syndrome

AureCombining Acute Accentlie Philippe, Fabien Névo, Ernie Esquivel, +13

Journal of the American Society of Nephrology

GlomerulonephritisUrologyMendelian DisorderGenetic DisorderCongenital Nephrotic Syndrome +13

Milder Presentation of Recessive Polycystic Kidney Disease Requires Presence of Amino Acid Substitution Mutations

Laszlo Furu, Luiz F. Onuchic, Ali G. Gharavi, +10

Journal of the American Society of Nephrology

Identification and Characterization of Pkhd1, the Mouse Orthologue of the Human ARPKD Gene

Yasuyuki Nagasawa, Sonja Matthiesen, Luiz F. Onuchic, +14

Journal of the American Society of Nephrology

Podocin Inactivation in Mature Kidneys Causes Focal Segmental Glomerulosclerosis and Nephrotic Syndrome

Géraldine Mollet, Julien Ratelade, Olivia Boyer, +10

Journal of the American Society of Nephrology

Glomerular DiseaseRenal PathologyPathologyGlomerulonephritisRenal Function +16

Biliary and Pancreatic Dysgenesis in Mice Harboring a Mutation in Pkhd1

Anna‐Rachel Gallagher, Ernie Esquivel, Tiffany S. Briere, +7

American Journal Of Pathology

Knockout MouseDevelopmental BiologyBiliary TractPancreatic DysgenesisPathology +4

Increased lysosomal proteolysis counteracts protein accumulation in the proximal tubule during focal segmental glomerulosclerosis

Rikke Nielsen, Géraldine Mollet, Ernie Esquivel, +4

Kidney International

Glomerular DiseaseGlomerulonephritisUrologyRenal FunctionFocal Segmental Glomerulosclerosis +12

Impact of diagnostic bone biopsies on the management of non-vertebral osteomyelitis

Cole B. Hirschfeld, Shashi N. Kapadia, Joanna Bryan, +4

Medicine

Maternal Environment Interacts with Modifier Genes to Influence Progression of Nephrotic Syndrome

Julien Ratelade, Tiphaine Aguirre Lavin, Andrea Onetti Muda, +12

Journal of the American Society of Nephrology

GeneticsMolecular GeneticsNphs2 GeneHigh-risk PregnancyGlomerulonephritis +18