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Author Details

Matias Simons
Institute of Human Genetics, University Hospital Heidelberg
1999
59
28
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36926036Four missense genetic variants in <i>CUBN</i> are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in Europeans.Front Endocrinol (Lausanne)2023
37734130De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.Pediatr Neurol2023
37085254ER stress and slit diaphragms: is there a connection?Kidney Int2023
35175796Lysosomal cystine mobilization shapes the response of TORC1 and tissue growth to fasting.Science2022
35550039Reducing lipid bilayer stress by monounsaturated fatty acids protects renal proximal tubules in diabetes.Elife2022
35411063Drosophila melanogaster: a simple genetic model of kidney structure, function and disease.Nat Rev Nephrol2022
35642643Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.J Clin Invest2022
36006879Risk and tropism of central nervous system (CNS) metastases in patients with stage II and III cutaneous melanoma.Cancer2022
31439720<i>De novo</i> SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures.J Med Genet2020
32145091Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.Hepatology2020
32238922The (pro)renin receptor: what's in a name?Nat Rev Nephrol2020
31613795Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.J Clin Invest2020
30559429U-Net: deep learning for cell counting, detection, and morphometry.Nat Methods2019
31875549Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A.Cell Rep2019
30804552Author Correction: U-Net: deep learning for cell counting, detection, and morphometry.Nat Methods2019
30910933Filling the Gap: <i>Drosophila</i> Nephrocytes as Model System in Kidney Research.J Am Soc Nephrol2019
30547231A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria.Diabetologia2019
29371418The Benefits of Tubular Proteinuria: An Evolutionary Perspective.J Am Soc Nephrol2018
29995586ATP6AP2 functions as a V-ATPase assembly factor in the endoplasmic reticulum.Mol Biol Cell2018
30365502Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.PLoS Genet2018
29388887Mutations in ATP6AP2 cause autophagic liver disease in humans.Autophagy2018
29418044Vacuolar ATPase is required for ERK-dependent wound healing in the Drosophila embryo.Wound Repair Regen2018
29768408A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.PLoS Genet2018
27864431APOL1-Mediated Cell Injury Involves Disruption of Conserved Trafficking Processes.J Am Soc Nephrol2017
28165339Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.J Clin Invest2017
28270414Targeting mTOR Signaling Can Prevent the Progression of FSGS.J Am Soc Nephrol2017
28401308Using Drosophila nephrocytes in genetic kidney disease.Cell Tissue Res2017
28969387WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.Brain2017
29127204Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects.J Exp Med2017
27108797Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.Am J Hum Genet2016
27044666Renal Atp6ap2/(Pro)renin Receptor Is Required for Normal Vacuolar H+-ATPase Function but Not for the Renin-Angiotensin System.J Am Soc Nephrol2016
26799652Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).Autophagy2016
26174537Flies With Skin Blisters.J Invest Dermatol2015
26424799Spontaneous and electric field-controlled front-rear polarization of human keratinocytes.Mol Biol Cell2015
24953654V-ATPase/mTOR signaling regulates megalin-mediated apical endocytosis.Cell Rep2014
23335205Elevated expression of the V-ATPase C subunit triggers JNK-dependent cell invasion and overgrowth in a Drosophila epithelium.Dis Model Mech2013
23292348Drosophila ATP6AP2/VhaPRR functions both as a novel planar cell polarity core protein and a regulator of endosomal trafficking.EMBO J2013
22211385FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia.Br J Dermatol2012
22792268Functional study of mammalian Neph proteins in Drosophila melanogaster.PLoS One2012
21380625The role of proton transporters in epithelial Wnt signaling pathways.Pediatr Nephrol2011
22083635Old friends form alliance against podocytes.Kidney Int2011
20579879Regulation of Frizzled-dependent planar polarity signaling by a V-ATPase subunit.Curr Biol2010
19219000Flying podocytes.Kidney Int2009
19805045Regulation of ciliary polarity by the APC/C.Proc Natl Acad Sci U S A2009
19439659Scribble participates in Hippo signaling and is required for normal zebrafish pronephros development.Proc Natl Acad Sci U S A2009
19542980Podocyte polarity signalling.Curr Opin Nephrol Hypertens2009
19234454Electrochemical cues regulate assembly of the Frizzled/Dishevelled complex at the plasma membrane during planar epithelial polarization.Nat Cell Biol2009
18309348It's not all about nephrin.Kidney Int2008
18710302Planar cell polarity signaling: from fly development to human disease.Annu Rev Genet2008
17429050Wnt signaling in polycystic kidney disease.J Am Soc Nephrol2007
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Collaborators

Maria Clara Guida
Sanford-Burnham-Prebys Medical Discovery Institute
Co-authored papers 6
Patrick Nitschke
Co-authored papers 5
Magda Cannata Serio
INSERM UMR3, Institut IMAGINE
Co-authored papers 4
Oliver Kretz
University Medical Center Hamburg-Eppendorf
Co-authored papers 3
Maria A Rujano
Institut Pasteur, CNRS UMR8
Co-authored papers 3
Virginie Hauser
California Institute of Technology
Co-authored papers 2
Samy Hadjadj
Co-authored papers 2
Anna K??ttgen
Institute of Genetic Epidemiology, Medical Center-University of Freiburg
Co-authored papers 2
Moin A Saleem
Co-authored papers 2
Emma Ahlqvist
Co-authored papers 2
Hermann Pavenstädt
Co-authored papers 2
Ian G Mills
Queen's University Belfast
Co-authored papers 1
Nikolai Slavov
and Barnett Institute, Northeastern University
Co-authored papers 1
Allan Linneberg
Co-authored papers 1
Laura Caberlotto
The Microsoft Research University of Trento
Co-authored papers 1
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The University of Texas M.D. Anderson Cancer Center
Co-authored papers 1
Nikolai V Gorbunov
Armed Forces Radiobiology Research Institute
Co-authored papers 1
J. Wade Harper
Harvard Medical School
Co-authored papers 1
John B Wallingford
University of Texas
Co-authored papers 1
Jan Paul Medema
Oncode Institute
Co-authored papers 1
David M Sabatini
Whitehead Institute for Biomedical Research and Massachusetts Institute of Technology
Co-authored papers 1
Arianna L Kim
Co-authored papers 1
Carlos L??pez-Ot??n
Instituto Universitario de Oncologia, Universidad de Oviedo
Co-authored papers 1
David Sulzer
New York State Psychiatric Institute, Research Foundation for Mental Hygiene
Co-authored papers 1
Ernst J Wolvetang
Australian Institute for Bioengineering and Nanotechnology, University of Queensland
Co-authored papers 1
Maya Schuldiner
The Weizmann Institute of Science
Co-authored papers 1
Sandrine Duvet
University Lille, CNRS
Co-authored papers 1
Marit E Jørgensen
Co-authored papers 1
Manuel Mattheisen
Dalhousie University
Co-authored papers 1
Manish K Aghi
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Release 1.2