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Items: 37

1.

Treatment with 2,4-Dihydroxybenzoic Acid Prevents FSGS Progression and Renal Fibrosis in Podocyte-Specific Coq6 Knockout Mice.

Widmeier E, Airik M, Hugo H, Schapiro D, Wedel J, Ghosh CC, Nakayama M, Schneider R, Awad AM, Nag A, Cho J, Schueler M, Clarke CF, Airik R, Hildebrandt F.

J Am Soc Nephrol. 2019 Feb 8. pii: ASN.2018060625. doi: 10.1681/ASN.2018060625. [Epub ahead of print]

PMID:
30737270
2.

Osteoclast stimulation factor 1 (Ostf1) KNOCKOUT increases trabecular bone mass in mice.

Vermeren M, Lyraki R, Wani S, Airik R, Albagha O, Mort R, Hildebrandt F, Hurd T.

Mamm Genome. 2017 Dec;28(11-12):498-514. doi: 10.1007/s00335-017-9718-3. Epub 2017 Sep 21.

3.

SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling.

Airik R, Schueler M, Airik M, Cho J, Ulanowicz KA, Porath JD, Hurd TW, Bekker-Jensen S, Schrøder JM, Andersen JS, Hildebrandt F.

PLoS One. 2016 May 25;11(5):e0156081. doi: 10.1371/journal.pone.0156081. eCollection 2016.

4.

A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis.

Airik R, Schueler M, Airik M, Cho J, Porath JD, Mukherjee E, Sims-Lucas S, Hildebrandt F.

J Am Soc Nephrol. 2016 Dec;27(12):3552-3559. Epub 2016 Mar 29.

5.

FAT1 mutations cause a glomerulotubular nephropathy.

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, Büscher 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, Hildebrandt F.

Nat Commun. 2016 Feb 24;7:10822. doi: 10.1038/ncomms10822.

6.

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

Braun DA, Schueler M, Halbritter J, Gee HY, Porath JD, Lawson JA, Airik R, Shril S, Allen SJ, Stein D, Al Kindy A, Beck BB, Cengiz N, Moorani KN, Ozaltin F, Hashmi S, Sayer JA, Bockenhauer D, Soliman NA, Otto EA, Lifton RP, Hildebrandt F.

Kidney Int. 2016 Feb;89(2):468-475. doi: 10.1038/ki.2015.317.

7.

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.

Schueler M, Braun DA, Chandrasekar G, Gee HY, Klasson TD, Halbritter J, Bieder A, Porath JD, Airik R, Zhou W, LoTurco JJ, Che A, Otto EA, Böckenhauer D, Sebire NJ, Honzik T, Harris PC, Koon SJ, Gunay-Aygun M, Saunier S, Zerres K, Bruechle NO, Drenth JP, Pelletier L, Tapia-Páez I, Lifton RP, Giles RH, Kere J, Hildebrandt F.

Am J Hum Genet. 2015 Jan 8;96(1):81-92. doi: 10.1016/j.ajhg.2014.12.002. Epub 2014 Dec 31.

8.

Repression of Sox9 by Jag1 is continuously required to suppress the default chondrogenic fate of vascular smooth muscle cells.

Briot A, Jaroszewicz A, Warren CM, Lu J, Touma M, Rudat C, Hofmann JJ, Airik R, Weinmaster G, Lyons K, Wang Y, Kispert A, Pellegrini M, Iruela-Arispe ML.

Dev Cell. 2014 Dec 22;31(6):707-21. doi: 10.1016/j.devcel.2014.11.023.

9.

Upk3b is dispensable for development and integrity of urothelium and mesothelium.

Rudat C, Grieskamp T, Röhr C, Airik R, Wrede C, Hegermann J, Herrmann BG, Schuster-Gossler K, Kispert A.

PLoS One. 2014 Nov 12;9(11):e112112. doi: 10.1371/journal.pone.0112112. eCollection 2014.

10.

Nephric duct insertion requires EphA4/EphA7 signaling from the pericloacal mesenchyme.

Weiss AC, Airik R, Bohnenpoll T, Greulich F, Foik A, Trowe MO, Rudat C, Costantini F, Adams RH, Kispert A.

Development. 2014 Sep;141(17):3420-30. doi: 10.1242/dev.113928.

11.

SDCCAG8 regulates pericentriolar material recruitment and neuronal migration in the developing cortex.

Insolera R, Shao W, Airik R, Hildebrandt F, Shi SH.

Neuron. 2014 Aug 20;83(4):805-22. doi: 10.1016/j.neuron.2014.06.029. Epub 2014 Jul 31.

12.

Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling.

Airik R, Slaats GG, Guo Z, Weiss AC, Khan N, Ghosh A, Hurd TW, Bekker-Jensen S, Schrøder JM, Elledge SJ, Andersen JS, Kispert A, Castelli M, Boletta A, Giles RH, Hildebrandt F.

J Am Soc Nephrol. 2014 Nov;25(11):2573-83. doi: 10.1681/ASN.2013050565. Epub 2014 Apr 10.

13.

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Böckenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F.

J Clin Invest. 2013 Dec;123(12):5179-89. doi: 10.1172/JCI69000. Epub 2013 Nov 25.

14.

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.

Gee HY, Otto EA, Hurd TW, Ashraf S, Chaki M, Cluckey A, Vega-Warner V, Saisawat P, Diaz KA, Fang H, Kohl S, Allen SJ, Airik R, Zhou W, Ramaswami G, Janssen S, Fu C, Innis JL, Weber S, Vester U, Davis EE, Katsanis N, Fathy HM, Jeck N, Klaus G, Nayir A, Rahim KA, Al Attrach I, Al Hassoun I, Ozturk S, Drozdz D, Helmchen U, O'Toole JF, Attanasio M, Lewis RA, Nürnberg G, Nürnberg P, Washburn J, MacDonald J, Innis JW, Levy S, Hildebrandt F.

Kidney Int. 2014 Apr;85(4):880-7. doi: 10.1038/ki.2013.450. Epub 2013 Nov 20.

15.

Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency.

Doimo M, Trevisson E, Airik R, Bergdoll M, Santos-Ocaña C, Hildebrandt F, Navas P, Pierrel F, Salviati L.

Biochim Biophys Acta. 2014 Jan;1842(1):1-6. doi: 10.1016/j.bbadis.2013.10.007. Epub 2013 Oct 18.

16.

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F.

Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17.

17.

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.

Austin-Tse C, Halbritter J, Zariwala MA, Gilberti RM, Gee HY, Hellman N, Pathak N, Liu Y, Panizzi JR, Patel-King RS, Tritschler D, Bower R, O'Toole E, Porath JD, Hurd TW, Chaki M, Diaz KA, Kohl S, Lovric S, Hwang DY, Braun DA, Schueler M, Airik R, Otto EA, Leigh MW, Noone PG, Carson JL, Davis SD, Pittman JE, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Dell SD, Rosenfeld M, Milla CE, Loges NT, Omran H, Porter ME, King SM, Knowles MR, Drummond IA, Hildebrandt F.

Am J Hum Genet. 2013 Oct 3;93(4):672-86. doi: 10.1016/j.ajhg.2013.08.015.

18.

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve-Rudd J, Loges NT, Rosenfeld M, Diaz KA, Olbrich H, Wolf WE, Sheridan E, Batten TF, Halbritter J, Porath JD, Kohl S, Lovric S, Hwang DY, Pittman JE, Burns KA, Ferkol TW, Sagel SD, Olivier KN, Morgan LC, Werner C, Raidt J, Pennekamp P, Sun Z, Zhou W, Airik R, Natarajan S, Allen SJ, Amirav I, Wieczorek D, Landwehr K, Nielsen K, Schwerk N, Sertic J, Köhler G, Washburn J, Levy S, Fan S, Koerner-Rettberg C, Amselem S, Williams DS, Mitchell BJ, Drummond IA, Otto EA, Omran H, Knowles MR, Hildebrandt F.

Am J Hum Genet. 2013 Aug 8;93(2):336-45. doi: 10.1016/j.ajhg.2013.06.007. Epub 2013 Jul 25.

19.

Tbx18 expression demarcates multipotent precursor populations in the developing urogenital system but is exclusively required within the ureteric mesenchymal lineage to suppress a renal stromal fate.

Bohnenpoll T, Bettenhausen E, Weiss AC, Foik AB, Trowe MO, Blank P, Airik R, Kispert A.

Dev Biol. 2013 Aug 1;380(1):25-36. doi: 10.1016/j.ydbio.2013.04.036. Epub 2013 May 15.

20.

TSHZ3 and SOX9 regulate the timing of smooth muscle cell differentiation in the ureter by reducing myocardin activity.

Martin E, Caubit X, Airik R, Vola C, Fatmi A, Kispert A, Fasano L.

PLoS One. 2013 May 6;8(5):e63721. doi: 10.1371/journal.pone.0063721. Print 2013.

21.

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F.

Cell. 2012 Aug 3;150(3):533-48. doi: 10.1016/j.cell.2012.06.028.

22.

Canonical Wnt signaling regulates smooth muscle precursor development in the mouse ureter.

Trowe MO, Airik R, Weiss AC, Farin HF, Foik AB, Bettenhausen E, Schuster-Gossler K, Taketo MM, Kispert A.

Development. 2012 Sep;139(17):3099-108. doi: 10.1242/dev.077388. Epub 2012 Jul 25.

23.

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.

Zhou W, Otto EA, Cluckey A, Airik R, Hurd TW, Chaki M, Diaz K, Lach FP, Bennett GR, Gee HY, Ghosh AK, Natarajan S, Thongthip S, Veturi U, Allen SJ, Janssen S, Ramaswami G, Dixon J, Burkhalter F, Spoendlin M, Moch H, Mihatsch MJ, Verine J, Reade R, Soliman H, Godin M, Kiss D, Monga G, Mazzucco G, Amann K, Artunc F, Newland RC, Wiech T, Zschiedrich S, Huber TB, Friedl A, Slaats GG, Joles JA, Goldschmeding R, Washburn J, Giles RH, Levy S, Smogorzewska A, Hildebrandt F.

Nat Genet. 2012 Jul 8;44(8):910-5. doi: 10.1038/ng.2347.

24.

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.

Saisawat P, Tasic V, Vega-Warner V, Kehinde EO, Günther B, Airik R, Innis JW, Hoskins BE, Hoefele J, Otto EA, Hildebrandt F.

Kidney Int. 2012 Jan;81(2):196-200. doi: 10.1038/ki.2011.315. Epub 2011 Sep 7.

25.

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, Doimo M, Casarin A, Pertegato V, Giorgi G, Prokisch H, Rötig A, Nürnberg G, Becker C, Wang S, Ozaltin F, Topaloglu R, Bakkaloglu A, Bakkaloglu SA, Müller D, Beissert A, Mir S, Berdeli A, Varpizen S, Zenker M, Matejas V, Santos-Ocaña C, Navas P, Kusakabe T, Kispert A, Akman S, Soliman NA, Krick S, Mundel P, Reiser J, Nürnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F.

J Clin Invest. 2011 May;121(5):2013-24. doi: 10.1172/JCI45693. Epub 2011 Apr 11.

26.

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.

Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group.

J Med Genet. 2011 Feb;48(2):105-16. doi: 10.1136/jmg.2010.082552. Epub 2010 Nov 10. Erratum in: J Med Genet. 2015 Dec;52(12):866.

27.

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

Janssen S, Ramaswami G, Davis EE, Hurd T, Airik R, Kasanuki JM, Van Der Kraak L, Allen SJ, Beales PL, Katsanis N, Otto EA, Hildebrandt F.

Hum Genet. 2011 Jan;129(1):79-90. doi: 10.1007/s00439-010-0902-8. Epub 2010 Oct 30.

28.

Hydroureternephrosis due to loss of Sox9-regulated smooth muscle cell differentiation of the ureteric mesenchyme.

Airik R, Trowe MO, Foik A, Farin HF, Petry M, Schuster-Gossler K, Schweizer M, Scherer G, Kist R, Kispert A.

Hum Mol Genet. 2010 Dec 15;19(24):4918-29. doi: 10.1093/hmg/ddq426. Epub 2010 Sep 29.

PMID:
20881014
29.

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM, Ramaswami G, Conte J, Lopez I, Washburn J, Macdonald J, Hu J, Yamashita Y, Maher ER, Guay-Woodford LM, Neumann HP, Obermüller N, Koenekoop RK, Bergmann C, Bei X, Lewis RA, Katsanis N, Lopes V, Williams DS, Lyons RH, Dang CV, Brito DA, Dias MB, Zhang X, Cavalcoli JD, Nürnberg G, Nürnberg P, Pierce EA, Jackson PK, Antignac C, Saunier S, Roepman R, Dollfus H, Khanna H, Hildebrandt F.

Nat Genet. 2010 Oct;42(10):840-50. doi: 10.1038/ng.662. Epub 2010 Sep 12.

30.

Loss of Sox9 in the periotic mesenchyme affects mesenchymal expansion and differentiation, and epithelial morphogenesis during cochlea development in the mouse.

Trowe MO, Shah S, Petry M, Airik R, Schuster-Gossler K, Kist R, Kispert A.

Dev Biol. 2010 Jun 1;342(1):51-62. doi: 10.1016/j.ydbio.2010.03.014. Epub 2010 Mar 24.

31.

The Tbx2+ primary myocardium of the atrioventricular canal forms the atrioventricular node and the base of the left ventricle.

Aanhaanen WT, Brons JF, Domínguez JN, Rana MS, Norden J, Airik R, Wakker V, de Gier-de Vries C, Brown NA, Kispert A, Moorman AF, Christoffels VM.

Circ Res. 2009 Jun 5;104(11):1267-74. doi: 10.1161/CIRCRESAHA.108.192450. Epub 2009 May 7.

PMID:
19423846
32.

Formation of the sinus node head and differentiation of sinus node myocardium are independently regulated by Tbx18 and Tbx3.

Wiese C, Grieskamp T, Airik R, Mommersteeg MT, Gardiwal A, de Gier-de Vries C, Schuster-Gossler K, Moorman AF, Kispert A, Christoffels VM.

Circ Res. 2009 Feb 13;104(3):388-97. doi: 10.1161/CIRCRESAHA.108.187062. Epub 2008 Dec 18.

PMID:
19096026
33.

Down the tube of obstructive nephropathies: the importance of tissue interactions during ureter development.

Airik R, Kispert A.

Kidney Int. 2007 Dec;72(12):1459-67. Epub 2007 Oct 10. Review.

34.

The prepattern transcription factor Irx3 directs nephron segment identity.

Reggiani L, Raciti D, Airik R, Kispert A, Brändli AW.

Genes Dev. 2007 Sep 15;21(18):2358-70.

35.

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.

Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nürnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, Bakkaloglu A, Cleper R, Basel-Vanagaite L, Pohl M, Griebel M, Tsygin AN, Soylu A, Müller D, Sorli CS, Bunney TD, Katan M, Liu J, Attanasio M, O'toole JF, Hasselbacher K, Mucha B, Otto EA, Airik R, Kispert A, Kelley GG, Smrcka AV, Gudermann T, Holzman LB, Nürnberg P, Hildebrandt F.

Nat Genet. 2006 Dec;38(12):1397-405. Epub 2006 Nov 5.

PMID:
17086182
36.

Tbx18 regulates the development of the ureteral mesenchyme.

Airik R, Bussen M, Singh MK, Petry M, Kispert A.

J Clin Invest. 2006 Mar;116(3):663-74.

37.

Gene expression analysis of Gata3-/- mice by using cDNA microarray technology.

Airik R, Kärner M, Karis A, Kärner J.

Life Sci. 2005 Apr 15;76(22):2559-68.

PMID:
15769480

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