SFB 1140:  Kidney Disease - from Genes to Mechanisms (KIDGEM)

• Subject Area: Medicine ; Biology
• Term: from 2015 to 2019
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 246781735

• Final Report Year: 2020

Final Report Abstract

High throughput technologies have enabled remarkable progress in understanding the genetic contribution to human disease. The CRC 1140 (KIDGEM) was implemented to bridge the gap between high dimensional genetic data and mechanistic insight necessary to prevent or treat hereditary disease, focusing on hereditary glomerular disease, hereditary tubular disease, and on signaling pathways in hereditary kidney disease. During the first funding period, KIDGEM made significant progress in all research areas, resulting in more than 200 publications. Major accomplishments include the characterization of the protein modules that constitute the slit diaphragm (SD), the characterization of evolutionary conserved signaling cascades, and the development of new structural models of the glomerular filtration barrier. Rather than acting as a static barrier, freeze-substitution electron microscopy revealed that SD molecules act in a dynamic fashion, constantly adjusting the space in between podocyte foot processes. Studying integrin alpha 3 (ITGA3) mutations that lead to a hereditary renal-skin syndrome revealed that ITGA3 mutations alter the cellular microenvironment. Genome-wide association studies not only identified novel chronic kidney disease genes, but connected single nucleotide polymorphisms to previously unknown metabolic pathways. Analysis of protein complexes involved in histone modifications revealed that podocytes use epigenetic programs to adapt to stress. Although the observation that most gene products responsible for cystic kidney diseases localize to the cilium, the precise molecular functions of most cilia-associated proteins remain unknown. A novel, UV-crosslinking method to examine protein-RNA interactions (FLASH) revealed that some cilia display RNA-binding properties. Furthermore, first candidate ligands for polycystin-1 were isolated, providing novel insights into the molecular pathogenesis of autosomal dominant polycystic kidney disease. While PKHD1 was long considered the only gene responsible for autosomal recessive polycystic kidney disease (ARPKD), KIDGEM identified DAZ Interacting Protein 1-Like (DZIP1L) as a second ARPKD gene, and discovered that several components of the DYNEIN-2 complex are mutated in patients with skeleto-renal ciliopathies. Attempting to characterize proteins involved in congenital ananomalies of the kidney and the ureteric tract (CAKUT), KIDGEM discovered transcription factors that can trans-differentiate fibroblasts into renal tubule-like cells. The induced renal tubular epithelial cells can repopulate decellularized kidney tissue and form kidney tubule-like structures. These findings may have significant implications not only for generating ex vivo models of hereditary kidney disease, but also provide novel approaches to ameliorate chronic kidney disease. KIDGEM also discovered fundamental insights into overarching pathogenic mechanisms in hereditary kidney disease, ranging from the role of autophagy in polycystic kidney disease to the biogenesis of mitochondria, emphasizing the overall strategy of KIDGEM in creating a research environment that connects gene discovery to gene function.

Publications

• Albumin-associated free fatty acids induce macropinocytosis in podocytes. J Clin Invest 125, 2307-2316 (2015)
  Chung JJ, Huber TB, Godel M, Jarad G, Hartleben B, Kwoh C, Keil A, Karpitskiy A, Hu J, Huh CJ, Cella M, Gross RW, Miner JH, and Shaw AS
  (See online at https://doi.org/10.1172/jci79641)
• An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol 17, 1074-1087 (2015)
  Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, and Johnson CA
  (See online at https://doi.org/10.1038/ncb3201)
• Cyclin O (Ccno) functions during deuterosome-mediated centriole amplification of multiciliated cells. EMBO J 34, 1078-1089 (2015)
  Funk MC, Bera AN, Menchen T, Kuales G, Thriene K, Lienkamp SS, Dengjel J, Omran H, Frank M, and Arnold SJ
  (See online at https://doi.org/10.15252/embj.201490805)
• Molecular architecture of the active mitochondrial protein gate. Science 349, 1544-1548 (2015)
  Shiota T, Imai K, Qiu J, Hewitt VL, Tan K, Shen HH, Sakiyama N, Fukasawa Y, Hayat S, Kamiya M, Elofsson A, Tomii K, Horton P, Wiedemann N, Pfanner N, Lithgow T, and Endo T
  (See online at https://doi.org/10.1126/science.aac6428)
• Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. Am J Hum Genet 97, 291-301 (2015)
  Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, Shril S, Hwang DY, Weiss AC, Kaminski MM, Shukrun R, Kemper MJ, Lehnhardt A, Beetz R, Sanna-Cherchi S, Verbitsky M, Gharavi AG, Stuart HM, Feather SA, Goodship JA, Goodship TH, Woolf AS, Westra SJ, Doody DP, Bauer SB, Lee RS, Adam RM, Lu W, Reutter HM, Kehinde EO, Mancini EJ, Lifton RP, Tasic V, Lienkamp SS, Juppner H, Kispert A, and Hildebrandt F
  (See online at https://doi.org/10.1016/j.ajhg.2015.07.001)
• TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun 6, 7074 (2015)
  Schmidts M, Hou Y, Cortes CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, and Witman GB
  (See online at https://doi.org/10.1038/ncomms8074)
• The polarity protein Inturned links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells. J Cell Biol 211, 963-973 (2015)
  Yasunaga T, Hoff S, Schell C, Helmstadter M, Kretz O, Kuechlin S, Yakulov TA, Engel C, Muller B, Bensch R, Ronneberger O, Huber TB, Lienkamp SS, and Walz G
  (See online at https://doi.org/10.1083/jcb.201502043)
• A flexible, multilayered protein scaffold maintains the slit in between glomerular podocytes. JCI Insight 1 (2016)
  Grahammer F, Wigge C, Schell C, Kretz O, Patrakka J, Schneider S, Klose M, Arnold SJ, Habermann A, Brauniger R, Rinschen MM, Volker L, Bregenzer A, Rubbenstroth D, Boerries M, Kerjaschki D, Miner JH, Walz G, Benzing T, Fornoni A, Frangakis AS, and Huber TB
  (See online at https://doi.org/10.1172/jci.insight.86177)
• Direct reprogramming of fibroblasts into renal tubular epithelial cells by defined transcription factors. Nat Cell Biol 18, 1269-1280 (2016)
  Kaminski MM, Tosic J, Kresbach C, Engel H, Klockenbusch J, Muller AL, Pichler R, Grahammer F, Kretz O, Huber TB, Walz G, Arnold SJ, and Lienkamp SS
  (See online at https://doi.org/10.1038/ncb3437)
• FAT1 mutations cause a glomerulotubular nephropathy. Nat Commun 7, 10822 (2016)
  Gee HY, Sadowski CE, Aggarwal PK, Porath JD, Yakulov TA, Schueler M, Lovric S, Ashraf S, Braun DA, Halbritter J, Fang H, Airik R, Vega-Warner V, Cho KJ, Chan TA, Morris LG, ffrench-Constant C, Allen N, McNeill H, Buscher R, Kyrieleis H, Wallot M, Gaspert A, Kistler T, Milford DV, Saleem MA, Keng WT, Alexander SI, Valentini RP, Licht C, Teh JC, Bogdanovic R, Koziell A, Bierzynska A, Soliman NA, Otto EA, Lifton RP, Holzman LB, Sibinga NE, Walz G, Tufro A, and Hildebrandt F
  (See online at https://doi.org/10.1038/ncomms10822)
• Mitochondrial OXA Translocase Plays a Major Role in Biogenesis of Inner-Membrane Proteins. Cell Metab 23, 901-908 (2016)
  Stiller SB, Hopker J, Oeljeklaus S, Schutze C, Schrempp SG, Vent-Schmidt J, Horvath SE, Frazier AE, Gebert N, van der Laan M, Bohnert M, Warscheid B, Pfanner N, and Wiedemann N
  (See online at https://doi.org/10.1016/j.cmet.2016.04.005)
• MOF Acetyl Transferase Regulates Transcription and Respiration in Mitochondria. Cell 167, 722-738.e723 (2016)
  Chatterjee A, Seyfferth J, Lucci J, Gilsbach R, Preissl S, Bottinger L, Martensson CU, Panhale A, Stehle T, Kretz O, Sahyoun AH, Avilov S, Eimer S, Hein L, Pfanner N, Becker T, and Akhtar A
  (See online at https://doi.org/10.1016/j.cell.2016.09.052)
• MOF maintains transcriptional programs regulating cellular stress response. Oncogene 35, 2698-710 (2016)
  Sheikh BN, Bechtel-Walz W, Lucci J, Karpiuk O, Hild I, Hartleben B, Vornweg J, Helmstadter M, Sahyoun AH, Bhardwaj V, Stehle T, Diehl S, Kretz O, Voss AK, Thomas T, Manke T, Huber TB, and Akhtar A
  (See online at https://doi.org/10.1038/onc.2015.335)
• mTORC2 critically regulates renal potassium handling. J Clin Invest 126, 1773-1782 (2016)
  Grahammer F, Nesterov V, Ahmed A, Steinhardt F, Sandner L, Arnold F, Cordts T, Negrea S, Bertog M, Ruegg MA, Hall MN, Walz G, Korbmacher C, Artunc F, and Huber TB
  (See online at https://doi.org/10.1172/jci80304)
• Septins guide microtubule protrusions induced by actin-depolymerizing toxins like Clostridium difficile transferase (CDT). Proc Natl Acad Sci U S A 113, 7870-7875 (2016)
  Nolke T, Schwan C, Lehmann F, Ostevold K, Pertz O, and Aktories K
  (See online at https://doi.org/10.1073/pnas.1522717113)
• DHX9 suppresses RNA processing defects originating from the Alu invasion of the human genome. Nature 544, 115-119 (2017)
  Aktas T, Avsar Ilik I, Maticzka D, Bhardwaj V, Pessoa Rodrigues C, Mittler G, Manke T, Backofen R, and Akhtar A
  (See online at https://doi.org/10.1038/nature21715)
• Discrete cytosolic macromolecular BRAF complexes exhibit distinct activities and composition. EMBO J 36, 646-663 (2017)
  Diedrich B, Rigbolt KT, Roring M, Herr R, Kaeser-Pebernard S, Gretzmeier C, Murphy RF, Brummer T, and Dengjel J
  (See online at https://doi.org/10.15252/embj.201694732)
• Genetic-Variation-Driven Gene-Expression Changes Highlight Genes with Important Functions for Kidney Disease. Am J Hum Genet 100, 940-953 (2017)
  Ko YA, Yi H, Qiu C, Huang S, Park J, Ledo N, Köttgen A, Li H, Rader DJ, Pack MA, Brown CD, and Susztak K
  (See online at https://doi.org/10.1016/j.ajhg.2017.05.004)
• Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nat Genet 49, 1025-1034 (2017)
  Lu H, Galeano MCR, Ott E, Kaeslin G, Kausalya PJ, Kramer C, Ortiz-Bruchle N, Hilger N, Metzis V, Hiersche M, Tay SY, Tunningley R, Vij S, Courtney AD, Whittle B, Wuhl E, Vester U, Hartleben B, Neuber S, Frank V, Little MH, Epting D, Papathanasiou P, Perkins AC, Wright GD, Hunziker W, Gee HY, Otto EA, Zerres K, Hildebrandt F, Roy S, Wicking C, and Bergmann C
  (See online at https://doi.org/10.1038/ng.3871)
• Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. Am J Hum Genet 100, 160-168 (2017)
  Paff T, Loges NT, Aprea I, Wu K, Bakey Z, Haarman EG, Daniels JMA, Sistermans EA, Bogunovic N, Dougherty GW, Hoben IM, Grosse-Onnebrink J, Matter A, Olbrich H, Werner C, Pals G, Schmidts M, Omran H, and Micha D
  (See online at https://doi.org/10.1016/j.ajhg.2016.11.019)
• The FERM protein EPB41L5 regulates actomyosin contractility and focal adhesion formation to maintain the kidney filtration barrier. Proc Natl Acad Sci U S A 114, E4621-e4630 (2017)
  Schell C, Rogg M, Suhm M, Helmstadter M, Sellung D, Yasuda-Yamahara M, Kretz O, Kuttner V, Suleiman H, Kollipara L, Zahedi RP, Sickmann A, Eimer S, Shaw AS, Kramer-Zucker A, Hirano-Kobayashi M, Abe T, Aizawa S, Grahammer F, Hartleben B, Dengjel J, and Huber TB
  (See online at https://doi.org/10.1073/pnas.1617004114)
• A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes. Cell Rep 23, 2495-2508 (2018)
  Rinschen MM, Godel M, Grahammer F, Zschiedrich S, Helmstadter M, Kretz O, Zarei M, Braun DA, Dittrich S, Pahmeyer C, Schroder P, Teetzen C, Gee H, Daouk G, Pohl M, Kuhn E, Schermer B, Kuttner V, Boerries M, Busch H, Schiffer M, Bergmann C, Kruger M, Hildebrandt F, Dengjel J, Benzing T, and Huber TB
  (See online at https://doi.org/10.1016/j.celrep.2018.04.059)
• ARP3 Controls the Podocyte Architecture at the Kidney Filtration Barrier. Dev Cell 47, 741-757.e748 (2018)
  Schell C, Sabass B, Helmstaedter M, Geist F, Abed A, Yasuda-Yamahara M, Sigle A, Maier JI, Grahammer F, Siegerist F, Artelt N, Endlich N, Kerjaschki D, Arnold HH, Dengjel J, Rogg M, and Huber TB
  (See online at https://doi.org/10.1016/j.devcel.2018.11.011)
• Cilia-localized LKB1 regulates chemokine signaling, macrophage recruitment, and tissue homeostasis in the kidney. EMBO J 37 (2018)
  Viau A, Bienaime F, Lukas K, Todkar AP, Knoll M, Yakulov TA, Hofherr A, Kretz O, Helmstadter M, Reichardt W, Braeg S, Aschman T, Merkle A, Pfeifer D, Dumit VI, Gubler MC, Nitschke R, Huber TB, Terzi F, Dengjel J, Grahammer F, Köttgen M, Busch H, Boerries M, Walz G, Triantafyllopoulou A, and Kuehn EW
  (See online at https://doi.org/10.15252/embj.201798615)
• Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies. PLoS Genet 14, e1007748 (2018)
  Goncalves S, Patat J, Guida MC, Lachaussee N, Arrondel C, Helmstadter M, Boyer O, Gribouval O, Gubler MC, Mollet G, Rio M, Charbit M, Bole-Feysot C, Nitschke P, Huber TB, Wheeler PG, Haynes D, Juusola J, de Villemeur TB, Nava C, Afenjar A, Keren B, Bodmer R, Antignac C, and Simons M
  (See online at https://doi.org/10.1371/journal.pgen.1007748)
• CXCL12 and MYC control energy metabolism to support adaptive responses after kidney injury. Nat Commun 9, 3660 (2018)
  Yakulov TA, Todkar AP, Slanchev K, Wiegel J, Bona A, Gross M, Scholz A, Hess I, Wurditsch A, Grahammer F, Huber TB, Lecaudey V, Bork T, Hochrein J, Boerries M, Leenders J, de Tullio P, Jouret F, Kramer-Zucker A, and Walz G
  (See online at https://doi.org/10.1038/s41467-018-06094-4)
• De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nat Genet 50, 1442-1451 (2018)
  Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktas T, Duffourd Y, Rumpf T, Morton J, Bache I, Szymanski WG, Gilissen C, Vanakker O, Ounap K, Mittler G, van der Burgt I, El Chehadeh S, Cho MT, Pfundt R, Tan TY, Kirchhoff M, Menten B, Vergult S, Lindstrom K, Reis A, Johnson DS, Fryer A, McKay V, Fisher RB, Thauvin-Robinet C, Francis D, Roscioli T, Pajusalu S, Radtke K, Ganesh J, Brunner HG, Wilson M, Faivre L, Kalscheuer VM, Thevenon J, and Akhtar A
  (See online at https://doi.org/10.1038/s41588-018-0220-y)
• Identification of a novel anoikis signalling pathway using the fungal virulence factor gliotoxin. Nat Commun 9, 3524 (2018)
  Haun F, Neumann S, Peintner L, Wieland K, Habicht J, Schwan C, Ostevold K, Koczorowska MM, Biniossek M, Kist M, Busch H, Boerries M, Davis RJ, Maurer U, Schilling O, Aktories K, and Borner C
  (See online at https://doi.org/10.1038/s41467-018-05850-w)
• Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels. Nat Commun 9, 4228 (2018)
  Tin A, Li Y, Brody JA, Nutile T, Chu AY, Huffman JE, Yang Q, Chen MH, Robinson-Cohen C, Mace A, Liu J, Demirkan A, Sorice R, Sedaghat S, Swen M, Yu B, Ghasemi S, Teumer A, Vollenweider P, Ciullo M, Li M, Uitterlinden AG, Kraaij R, Amin N, van Rooij J, Kutalik Z, Dehghan A, McKnight B, van Duijn CM, Morrison A, Psaty BM, Boerwinkle E, Fox CS, Woodward OM, and Köttgen A
  (See online at https://doi.org/10.1038/s41467-018-06620-4)
• Membrane protein insertion through a mitochondrial beta-barrel gate. Science 359 (2018)
  Hohr AIC, Lindau C, Wirth C, Qiu J, Stroud DA, Kutik S, Guiard B, Hunte C, Becker T, Pfanner N, and Wiedemann N
  (See online at https://doi.org/10.1126/science.aah6834)
• Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms. Am J Hum Genet 102, 973-984 (2018)
  Hoben IM, Hjeij R, Olbrich H, Dougherty GW, Nothe-Menchen T, Aprea I, Frank D, Pennekamp P, Dworniczak B, Wallmeier J, Raidt J, Nielsen KG, Philipsen MC, Santamaria F, Venditto L, Amirav I, Mussaffi H, Prenzel F, Wu K, Bakey Z, Schmidts M, Loges NT, and Omran H
  (See online at https://doi.org/10.1016/j.ajhg.2018.03.025)
• Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. Am J Hum Genet 103, 995-1008 (2018)
  Loges NT, Antony D, Maver A, Deardorff MA, Gulec EY, Gezdirici A, Nothe-Menchen T, Hoben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu K, Goldmuntz E, Cuturilo G, Krock B, Ritter A, Hjeij R, Bakey Z, Pennekamp P, Dworniczak B, Brunner H, Peterlin B, Tanidir C, Olbrich H, Omran H, and Schmidts M
  (See online at https://doi.org/10.1016/j.ajhg.2018.10.020)
• Structural Basis of Membrane Protein Chaperoning through the Mitochondrial Intermembrane Space. Cell 175, 1365-1379.e1325 (2018)
  Weinhaupl K, Lindau C, Hessel A, Wang Y, Schutze C, Jores T, Melchionda L, Schonfisch B, Kalbacher H, Bersch B, Rapaport D, Brennich M, Lindorff-Larsen K, Wiedemann N, and Schanda P
  (See online at https://doi.org/10.1016/j.cell.2018.10.039)
• uvCLAP is a fast and non-radioactive method to identify in vivo targets of RNA-binding proteins. Nat Commun 9, 1142 (2018)
  Maticzka D, Ilik IA, Aktas T, Backofen R, and Akhtar A
  (See online at https://doi.org/10.1038/s41467-018-03575-4)
• Anaerobic Glycolysis Maintains the Glomerular Filtration Barrier Independent of Mitochondrial Metabolism and Dynamics. Cell Rep 27, 1551-1566.e1555 (2019)
  Brinkkoetter PT, Bork T, Salou S, Liang W, Mizi A, Ozel C, Koehler S, Hagmann HH, Ising C, Kuczkowski A, Schnyder S, Abed A, Schermer B, Benzing T, Kretz O, Puelles VG, Lagies S, Schlimpert M, Kammerer B, Handschin C, Schell C, and Huber TB
  (See online at https://doi.org/10.1016/j.celrep.2019.04.012)
• Eomes and Brachyury control pluripotency exit and germ-layer segregation by changing the chromatin state. Nat Cell Biol 21, 1518-1531 (2019)
  Tosic J, Kim GJ, Pavlovic M, Schroder CM, Mersiowsky SL, Barg M, Hofherr A, Probst S, Köttgen M, Hein L, and Arnold SJ
  (See online at https://doi.org/10.1038/s41556-019-0423-1)
• Primary decidual zone formation requires Scribble for pregnancy success in mice. Nat Commun 10, 5425 (2019)
  Yuan J, Aikawa S, Deng W, Bartos A, Walz G, Grahammer F, Huber TB, Sun X, and Dey SK
  (See online at https://doi.org/10.1038/s41467-019-13489-4)
• Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. Nat Genet 51, 1459-1474 (2019)
  Tin A, Marten J, Halperin Kuhns VL, Li Y, Wuttke M, ..., and Köttgen A
  (See online at https://doi.org/10.1038/s41588-019-0504-x)
• Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans. Nat Genet 52, 167-176 (2020)
  Schlosser P, Li Y, Sekula P, Raffler J, Grundner-Culemann F, Pietzner M, Cheng Y, Wuttke M, Steinbrenner I, Schultheiss UT, Kotsis F, Kacprowski T, Forer L, Hausknecht B, Ekici AB, Nauck M, Volker U, Walz G, Oefner PJ, Kronenberg F, Mohney RP, Köttgen M, Suhre K, Eckardt KU, Kastenmuller G, and Köttgen A
  (See online at https://doi.org/10.1038/s41588-019-0567-8)
• Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function. J Clin Invest 130, 335-344 (2020)
  Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaude L, Tete MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schafer T, Pape L, Godel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Moriniere V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschke P, Ahluwalia TS, Köttgen A, Andersen CBF, Bergmann C, Antignac C, and Simons M
  (See online at https://doi.org/10.1172/jci129937)