A Drosophila model system to assess the function of human monogenic podocyte mutations that cause nephrotic syndrome

Human genetics of nephrotic syndrome and the quest for precision medicine

(2016) Anna Greka   CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION

Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa

(2016) Yinghong He et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Exploring the genetic basis of early-onset chronic kidney disease

(2016) Asaf Vivante et al.   Nature Reviews Nephrology

Clinical and histological findings of autosomal dominant renal-limited disease withLMX1Bmutation

(2016) Takao Konomoto et al.   NEPHROLOGY

Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report

(2015) Emma Montgomery et al.   BMC Medical Genetics

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

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

Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis

(2015) Christine Gast et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

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

(2015) Svjetlana Lovric et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Deletion of the <italic>Lmna</italic> Gene Induces Growth Delay and Serum Biochemical Changes in C57BL/6 Mice

(2014) J. Ruan et al.   ASIAN-AUSTRALASIAN JOURNAL OF ANIMAL SCIENCES

Lmx1b and FoxC Combinatorially Regulate Podocin Expression in Podocytes

(2014) B. He 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

Rare inherited kidney diseases: challenges, opportunities, and perspectives

(2014) Olivier Devuyst et al.   LANCET

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

(2014) Asaf Vivante et al.   PEDIATRIC NEPHROLOGY

Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene

(2013) T. Esposito et al.   HUMAN MOLECULAR 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

N-WASP Is Required for Stabilization of Podocyte Foot Processes

(2013) C. Schell et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

The Drosophila Nephrocyte: Back on Stage

(2013) J. Na et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

LMX1B Mutations Cause Hereditary FSGS without Extrarenal Involvement

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

An In Vivo Functional Analysis System for Renal Gene Discovery in Drosophila Pericardial Nephrocytes

(2013) F. Zhang et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Pigment-Dispersing Factor Modulates Pheromone Production in Clock Cells that Influence Mating in Drosophila

(2013) Joshua J. Krupp et al.   NEURON

Primary coenzyme Q10 (CoQ10) deficiencies and related nephropathies

(2013) Fatih Ozaltin   PEDIATRIC NEPHROLOGY

Generation and Characterization of an Nxf7 Knockout Mouse to Study NXF5 Deficiency in a Patient with Intellectual Disability

(2013) Lieselot Vanmarsenille et al.   PLoS One

Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity

(2012) Jemima Barrowman et al.   HUMAN MOLECULAR GENETICS

Cubilin and Amnionless Mediate Protein Reabsorption in Drosophila Nephrocytes

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

Mechanisms of the proteinuria induced by Rho GTPases

(2012) Liming Wang et al.   KIDNEY INTERNATIONAL

Cell Biology and Pathology of Podocytes

(2011) Anna Greka et al.   Annual Review of Physiology

An integrative approach to ortholog prediction for disease-focused and other functional studies

(2011) Yanhui Hu et al.   BMC BIOINFORMATICS

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

Common variation in GPC5 is associated with acquired nephrotic syndrome

(2011) Koji Okamoto et al.   NATURE GENETICS

A genome-scale shRNA resource for transgenic RNAi in Drosophila

(2011) Jian-Quan Ni et al.   NATURE METHODS

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

(2010) Catarina M. Quinzii et al.   FASEB JOURNAL

Genetic kidney diseases

(2010) Friedhelm Hildebrandt   LANCET

Bringing together components of the fly renal system

(2009) Barry Denholm et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Sns and Kirre, the Drosophila orthologs of Nephrin and Neph1, direct adhesion, fusion and formation of a slit diaphragm-like structure in insect nephrocytes

(2009) S. Zhuang et al.   DEVELOPMENT

Flying podocytes

(2009) Matias Simons et al.   KIDNEY INTERNATIONAL

CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS)

(2009) M. Gigante et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

The insect nephrocyte is a podocyte-like cell with a filtration slit diaphragm

(2008) Helen Weavers et al.   NATURE

Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis

(2008) M. Lowik et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION