C. Arrondel

发表

A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes.

N. Hastie, C. Antignac, M. Pontoglio, 2010, Human molecular genetics.

Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

G. Mollet, C. Antignac, C. Antignac, 2001, Journal of the American Society of Nephrology : JASN.

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

G. Mazzucco, G. Frascà, D. Roccatello, 2002, Kidney international.

Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.

C. Antignac, X. Lens, R. Torra, 2002, Journal of the American Society of Nephrology : JASN.

Endoplasmic reticulum–retained podocin mutants are massively degraded by the proteasome

K. Tory, G. Mollet, C. Antignac, 2018, The Journal of Biological Chemistry.

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

K. Tory, G. Mollet, O. Gribouval, 2014, Nature Genetics.

A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia.

C. Antignac, M. Gubler, G. Deschênes, 2004, Kidney international.

Molecular fingerprinting of the podocyte reveals novel gene and protein regulatory networks.

M. Boerries, H. Busch, F. Grahammer, 2013, Kidney international.

Fetal renin-angiotensin-system blockade syndrome: renal lesions

M. Gubler, C. Arrondel, F. Chavant, 2014, Pediatric Nephrology.

Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis

R. Deberardinis, H. Firth, J. Tolmie, 2012, Human mutation.

C-terminal oligomerization of podocin mediates interallelic interactions

K. Tory, G. Mollet, Eszter Balogh, 2019 .

C-terminal oligomerization of podocin mediates interallelic interactions.

K. Tory, G. Mollet, C. Antignac, 2018, Biochimica et biophysica acta. Molecular basis of disease.

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

K. Schwarz, T. Giese, R. Lifton, 2017, The Journal of clinical investigation.

Discovery of microvascular miRNAs using public gene expression data: miR-145 is expressed in pericytes and is a regulator of Fli1

E. Larsson, B. Schermer, T. Benzing, 2009, Genome Medicine.

Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.

Corinne Antignac, Bertrand Knebelmann, C. Antignac, 2002, Journal of the American Society of Nephrology : JASN.

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

R. Bodmer, A. Afenjar, G. Mollet, 2018, PLoS genetics.

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

G. Mollet, O. Gribouval, F. Silbermann, 2014, Journal of the American Society of Nephrology : JASN.

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

H. Williams, D. Curtis, K. Tory, 2020, Proceedings of the National Academy of Sciences.

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.

N. Boddaert, G. Mollet, O. Gribouval, 2014, American Journal of Human Genetics.

Disruption of pathways regulated by Integrator complex in Galloway–Mowat syndrome due to WDR73 mutations

G. Mollet, C. Antignac, C. Bole-Feysot, 2021, Scientific Reports.

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

C. Antignac, C. Antignac, M. Gubler, 1996, American journal of human genetics.

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renalhepatic-pancreatic dysplasia.

C. Antignac, S. Saunier, M. Gubler, 2020 .

Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.

C. Antignac, S. Saunier, M. Gubler, 2020, Kidney international.

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

F. Silbermann, S. Saunier, C. Bole-Feysot, 2017, American journal of human genetics.

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

N. Boddaert, D. Magen, P. Revy, 2019, Nature Communications.

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.

G. Mollet, O. Gribouval, C. Antignac, 2011, The New England journal of medicine.

Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases

S. Saunier, C. Bénéteau, C. Jeanpierre, 2022, Human mutation.

Mutations in the COL 4 A 4 and COL 4 A 3 Genes Cause Familial Benign Hematuria

C. Antignac, X. Lens, R. Torra, 2002 .

Literature Abstracts

G. Mollet, M. Gubler, L. Forestier, 2001, Pediatric Nephrology.

A wave of deep intronic mutations in X-linked Alport Syndrome.

O. Gribouval, C. Antignac, C. Bole-Feysot, 2023, Kidney international.

Alport syndrome associated with diffuse leiomyomatosis: COL4A5-COL4A6 deletion associated with a mild form of Alport nephropathy.

C. Antignac, M. Gubler, Y. Sado, 2002, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Spectrum ofMutations intheCOL4A5Collagen GeneinX-Linked Alport Syndrome

C. Antignac, B. Knebelmann, G. Deschênes, 1996 .

Literature Abstracts

Not Available Not Available, G. Mollet, L. Heidet, 2001, Pediatric Nephrology.