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Items: 1 to 50 of 52

1.

Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.

Teumer A, Li Y, Ghasemi S, Prins BP, Wuttke M, Hermle T, Giri A, Sieber KB, Qiu C, Kirsten H, Tin A, Chu AY, Bansal N, Feitosa MF, Wang L, Chai JF, Cocca M, Fuchsberger C, Gorski M, Hoppmann A, Horn K, Li M, Marten J, Noce D, Nutile T, Sedaghat S, Sveinbjornsson G, Tayo BO, van der Most PJ, Xu Y, Yu Z, Gerstner L, Ärnlöv J, Bakker SJL, Baptista D, Biggs ML, Boerwinkle E, Brenner H, Burkhardt R, Carroll RJ, Chee ML, Chee ML, Chen M, Cheng CY, Cook JP, Coresh J, Corre T, Danesh J, de Borst MH, De Grandi A, de Mutsert R, de Vries APJ, Degenhardt F, Dittrich K, Divers J, Eckardt KU, Ehret G, Endlich K, Felix JF, Franco OH, Franke A, Freedman BI, Freitag-Wolf S, Gansevoort RT, Giedraitis V, Gögele M, Grundner-Culemann F, Gudbjartsson DF, Gudnason V, Hamet P, Harris TB, Hicks AA, Holm H, Foo VHX, Hwang SJ, Ikram MA, Ingelsson E, Jaddoe VWV, Jakobsdottir J, Josyula NS, Jung B, Kähönen M, Khor CC, Kiess W, Koenig W, Körner A, Kovacs P, Kramer H, Krämer BK, Kronenberg F, Lange LA, Langefeld CD, Lee JJ, Lehtimäki T, Lieb W, Lim SC, Lind L, Lindgren CM, Liu J, Loeffler M, Lyytikäinen LP, Mahajan A, Maranville JC, Mascalzoni D, McMullen B, Meisinger C, Meitinger T, Miliku K, Mook-Kanamori DO, Müller-Nurasyid M, Mychaleckyj JC, Nauck M, Nikus K, Ning B, Noordam R, Connell JO, Olafsson I, Palmer ND, Peters A, Podgornaia AI, Ponte B, Poulain T, Pramstaller PP, Rabelink TJ, Raffield LM, Reilly DF, Rettig R, Rheinberger M, Rice KM, Rivadeneira F, Runz H, Ryan KA, Sabanayagam C, Saum KU, Schöttker B, Shaffer CM, Shi Y, Smith AV, Strauch K, Stumvoll M, Sun BB, Szymczak S, Tai ES, Tan NYQ, Taylor KD, Teren A, Tham YC, Thiery J, Thio CHL, Thomsen H, Thorsteinsdottir U, Tönjes A, Tremblay J, Uitterlinden AG, van der Harst P, Verweij N, Vogelezang S, Völker U, Waldenberger M, Wang C, Wilson OD, Wong C, Wong TY, Yang Q, Yasuda M, Akilesh S, Bochud M, Böger CA, Devuyst O, Edwards TL, Ho K, Morris AP, Parsa A, Pendergrass SA, Psaty BM, Rotter JI, Stefansson K, Wilson JG, Susztak K, Snieder H, Heid IM, Scholz M, Butterworth AS, Hung AM, Pattaro C, Köttgen A.

Nat Commun. 2019 Sep 11;10(1):4130. doi: 10.1038/s41467-019-11576-0.

2.

Author Correction: New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

Shrine N, Guyatt AL, Erzurumluoglu AM, Jackson VE, Hobbs BD, Melbourne CA, Batini C, Fawcett KA, Song K, Sakornsakolpat P, Li X, Boxall R, Reeve NF, Obeidat M, Zhao JH, Wielscher M; Understanding Society Scientific Group, Weiss S, Kentistou KA, Cook JP, Sun BB, Zhou J, Hui J, Karrasch S, Imboden M, Harris SE, Marten J, Enroth S, Kerr SM, Surakka I, Vitart V, Lehtimäki T, Allen RJ, Bakke PS, Beaty TH, Bleecker ER, Bossé Y, Brandsma CA, Chen Z, Crapo JD, Danesh J, DeMeo DL, Dudbridge F, Ewert R, Gieger C, Gulsvik A, Hansell AL, Hao K, Hoffman JD, Hokanson JE, Homuth G, Joshi PK, Joubert P, Langenberg C, Li X, Li L, Lin K, Lind L, Locantore N, Luan J, Mahajan A, Maranville JC, Murray A, Nickle DC, Packer R, Parker MM, Paynton ML, Porteous DJ, Prokopenko D, Qiao D, Rawal R, Runz H, Sayers I, Sin DD, Smith BH, Artigas MS, Sparrow D, Tal-Singer R, Timmers PRHJ, Van den Berge M, Whittaker JC, Woodruff PG, Yerges-Armstrong LM, Troyanskaya OG, Raitakari OT, Kähönen M, Polašek O, Gyllensten U, Rudan I, Deary IJ, Probst-Hensch NM, Schulz H, James AL, Wilson JF, Stubbe B, Zeggini E, Jarvelin MR, Wareham N, Silverman EK, Hayward C, Morris AP, Butterworth AS, Scott RA, Walters RG, Meyers DA, Cho MH, Strachan DP, Hall IP, Tobin MD, Wain LV.

Nat Genet. 2019 Jun;51(6):1067. doi: 10.1038/s41588-019-0438-3.

PMID:
31110354
3.

New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

Shrine N, Guyatt AL, Erzurumluoglu AM, Jackson VE, Hobbs BD, Melbourne CA, Batini C, Fawcett KA, Song K, Sakornsakolpat P, Li X, Boxall R, Reeve NF, Obeidat M, Zhao JH, Wielscher M, Weiss S, Kentistou KA, Cook JP, Sun BB, Zhou J, Hui J, Karrasch S, Imboden M, Harris SE, Marten J, Enroth S, Kerr SM, Surakka I, Vitart V, Lehtimäki T, Allen RJ, Bakke PS, Beaty TH, Bleecker ER, Bossé Y, Brandsma CA, Chen Z, Crapo JD, Danesh J, DeMeo DL, Dudbridge F, Ewert R, Gieger C, Gulsvik A, Hansell AL, Hao K, Hoffman JD, Hokanson JE, Homuth G, Joshi PK, Joubert P, Langenberg C, Li X, Li L, Lin K, Lind L, Locantore N, Luan J, Mahajan A, Maranville JC, Murray A, Nickle DC, Packer R, Parker MM, Paynton ML, Porteous DJ, Prokopenko D, Qiao D, Rawal R, Runz H, Sayers I, Sin DD, Smith BH, Soler Artigas M, Sparrow D, Tal-Singer R, Timmers PRHJ, Van den Berge M, Whittaker JC, Woodruff PG, Yerges-Armstrong LM, Troyanskaya OG, Raitakari OT, Kähönen M, Polašek O, Gyllensten U, Rudan I, Deary IJ, Probst-Hensch NM, Schulz H, James AL, Wilson JF, Stubbe B, Zeggini E, Jarvelin MR, Wareham N, Silverman EK, Hayward C, Morris AP, Butterworth AS, Scott RA, Walters RG, Meyers DA, Cho MH, Strachan DP, Hall IP, Tobin MD, Wain LV; Understanding Society Scientific Group.

Nat Genet. 2019 Mar;51(3):481-493. doi: 10.1038/s41588-018-0321-7. Epub 2019 Feb 25. Erratum in: Nat Genet. 2019 Jun;51(6):1067.

4.

PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants.

Bodea CA, Mitchell AA, Bloemendal A, Day-Williams AG, Runz H, Sunyaev SR.

Genome Biol. 2018 Oct 25;19(1):173. doi: 10.1186/s13059-018-1546-6.

5.

Phenome-wide association studies across large population cohorts support drug target validation.

Diogo D, Tian C, Franklin CS, Alanne-Kinnunen M, March M, Spencer CCA, Vangjeli C, Weale ME, Mattsson H, Kilpeläinen E, Sleiman PMA, Reilly DF, McElwee J, Maranville JC, Chatterjee AK, Bhandari A, Nguyen KH, Estrada K, Reeve MP, Hutz J, Bing N, John S, MacArthur DG, Salomaa V, Ripatti S, Hakonarson H, Daly MJ, Palotie A, Hinds DA, Donnelly P, Fox CS, Day-Williams AG, Plenge RM, Runz H.

Nat Commun. 2018 Oct 16;9(1):4285. doi: 10.1038/s41467-018-06540-3.

6.

Author Correction: Genome-wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease.

Yao C, Chen G, Song C, Keefe J, Mendelson M, Huan T, Sun BB, Laser A, Maranville JC, Wu H, Ho JE, Courchesne P, Lyass A, Larson MG, Gieger C, Graumann J, Johnson AD, Danesh J, Runz H, Hwang SJ, Liu C, Butterworth AS, Suhre K, Levy D.

Nat Commun. 2018 Sep 18;9(1):3853. doi: 10.1038/s41467-018-06231-z.

7.

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families.

Gormley P, Kurki MI, Hiekkala ME, Veerapen K, Häppölä P, Mitchell AA, Lal D, Palta P, Surakka I, Kaunisto MA, Hämäläinen E, Vepsäläinen S, Havanka H, Harno H, Ilmavirta M, Nissilä M, Säkö E, Sumelahti ML, Liukkonen J, Sillanpää M, Metsähonkala L, Koskinen S, Lehtimäki T, Raitakari O, Männikkö M, Ran C, Belin AC, Jousilahti P, Anttila V, Salomaa V, Artto V, Färkkilä M; 23andMe Research Team; International Headache Genetics Consortium (IHGC), Runz H, Daly MJ, Neale BM, Ripatti S, Kallela M, Wessman M, Palotie A.

Neuron. 2018 Sep 5;99(5):1098. doi: 10.1016/j.neuron.2018.08.029. No abstract available.

8.

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.

Cortina-Borja M, Te Vruchte D, Mengel E, Amraoui Y, Imrie J, Jones SA, I Dali C, Fineran P, Kirkegaard T, Runz H, Lachmann R, Bremova-Ertl T, Strupp M, Platt FM.

Orphanet J Rare Dis. 2018 Aug 16;13(1):143. doi: 10.1186/s13023-018-0880-9.

9.

Genome-wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease.

Yao C, Chen G, Song C, Keefe J, Mendelson M, Huan T, Sun BB, Laser A, Maranville JC, Wu H, Ho JE, Courchesne P, Lyass A, Larson MG, Gieger C, Graumann J, Johnson AD, Danesh J, Runz H, Hwang SJ, Liu C, Butterworth AS, Suhre K, Levy D.

Nat Commun. 2018 Aug 15;9(1):3268. doi: 10.1038/s41467-018-05512-x. Erratum in: Nat Commun. 2018 Sep 18;9(1):3853.

10.

Systematic RNA-interference in primary human monocyte-derived macrophages: A high-throughput platform to study foam cell formation.

Domschke G, Linden F, Pawig L, Hafner A, Akhavanpoor M, Reymann J, Doesch AO, Erbel C, Weber C, Katus HA, Noels H, Erfle H, Gleissner CA, Runz H.

Sci Rep. 2018 Jul 12;8(1):10516. doi: 10.1038/s41598-018-28790-3.

11.

Genomic atlas of the human plasma proteome.

Sun BB, Maranville JC, Peters JE, Stacey D, Staley JR, Blackshaw J, Burgess S, Jiang T, Paige E, Surendran P, Oliver-Williams C, Kamat MA, Prins BP, Wilcox SK, Zimmerman ES, Chi A, Bansal N, Spain SL, Wood AM, Morrell NW, Bradley JR, Janjic N, Roberts DJ, Ouwehand WH, Todd JA, Soranzo N, Suhre K, Paul DS, Fox CS, Plenge RM, Danesh J, Runz H, Butterworth AS.

Nature. 2018 Jun;558(7708):73-79. doi: 10.1038/s41586-018-0175-2. Epub 2018 Jun 6.

12.

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families.

Gormley P, Kurki MI, Hiekkala ME, Veerapen K, Häppölä P, Mitchell AA, Lal D, Palta P, Surakka I, Kaunisto MA, Hämäläinen E, Vepsäläinen S, Havanka H, Harno H, Ilmavirta M, Nissilä M, Säkö E, Sumelahti ML, Liukkonen J, Sillanpää M, Metsähonkala L, Koskinen S, Lehtimäki T, Raitakari O, Männikkö M, Ran C, Belin AC, Jousilahti P, Anttila V, Salomaa V, Artto V, Färkkilä M; 23andMe Research Team; International Headache Genetics Consortium (IHGC), Runz H, Daly MJ, Neale BM, Ripatti S, Kallela M, Wessman M, Palotie A.

Neuron. 2018 May 16;98(4):743-753.e4. doi: 10.1016/j.neuron.2018.04.014. Epub 2018 May 3. Erratum in: Neuron. 2018 Sep 5;99(5):1098.

13.

HDL-cholesterol levels and risk of age-related macular degeneration: a multiethnic genetic study using Mendelian randomization.

Fan Q, Maranville JC, Fritsche L, Sim X, Cheung CMG, Chen LJ, Gorski M, Yamashiro K, Ahn J, Laude A, Dorajoo R, Lim TH, Teo YY, Blaustein RO, Yoshimura N, Park KH, Pang CP, Tai ES, Khor CC, Wong TY, Runz H, Cheng CY.

Int J Epidemiol. 2017 Dec 1;46(6):1891-1902. doi: 10.1093/ije/dyx189.

14.

Systematic Cell-Based Phenotyping of Missense Alleles.

Thormählen AS, Runz H.

Methods Mol Biol. 2017;1601:215-228. doi: 10.1007/978-1-4939-6960-9_17.

PMID:
28470529
15.

Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.

Ebrahimi-Fakhari D, Wahlster L, Bartz F, Werenbeck-Ueding J, Praggastis M, Zhang J, Joggerst-Thomalla B, Theiss S, Grimm D, Ory DS, Runz H.

Hum Mol Genet. 2016 Aug 15;25(16):3588-3599. doi: 10.1093/hmg/ddw204. Epub 2016 Jul 4.

16.

Development of a bile acid-based newborn screen for Niemann-Pick disease type C.

Jiang X, Sidhu R, Mydock-McGrane L, Hsu FF, Covey DF, Scherrer DE, Earley B, Gale SE, Farhat NY, Porter FD, Dietzen DJ, Orsini JJ, Berry-Kravis E, Zhang X, Reunert J, Marquardt T, Runz H, Giugliani R, Schaffer JE, Ory DS.

Sci Transl Med. 2016 May 4;8(337):337ra63. doi: 10.1126/scitranslmed.aaf2326.

17.

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.

Schwerd T, Pandey S, Yang HT, Bagola K, Jameson E, Jung J, Lachmann RH, Shah N, Patel SY, Booth C, Runz H, Düker G, Bettels R, Rohrbach M, Kugathasan S, Chapel H, Keshav S, Elkadri A, Platt N, Muise AM, Koletzko S, Xavier RJ, Marquardt T, Powrie F, Wraith JE, Gyrd-Hansen M, Platt FM, Uhlig HH.

Gut. 2017 Jun;66(6):1060-1073. doi: 10.1136/gutjnl-2015-310382. Epub 2016 Mar 7.

18.

The genome as pharmacopeia: association of genetic dose with phenotypic response.

Wadhawan S, Runz H, Burchard J.

Biochem Pharmacol. 2015 Apr 15;94(4):229-40. doi: 10.1016/j.bcp.2015.02.005. Epub 2015 Feb 20. Review.

PMID:
25707983
19.

Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Thormaehlen AS, Schuberth C, Won HH, Blattmann P, Joggerst-Thomalla B, Theiss S, Asselta R, Duga S, Merlini PA, Ardissino D, Lander ES, Gabriel S, Rader DJ, Peloso GM, Pepperkok R, Kathiresan S, Runz H.

PLoS Genet. 2015 Feb 3;11(2):e1004855. doi: 10.1371/journal.pgen.1004855. eCollection 2015 Feb. Erratum in: PLoS Genet. 2015 Mar;11(3):e1005060.

20.

Disruption of SOX6 is associated with a rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features.

Ebrahimi-Fakhari D, Maas B, Haneke C, Niehues T, Hinderhofer K, Assmann BE, Runz H.

Pediatr Neurol. 2015 Jan;52(1):115-8. doi: 10.1016/j.pediatrneurol.2014.08.021. Epub 2014 Sep 17.

PMID:
25439488
21.

Transmembrane protein 55B is a novel regulator of cellular cholesterol metabolism.

Medina MW, Bauzon F, Naidoo D, Theusch E, Stevens K, Schilde J, Schubert C, Mangravite LM, Rudel LL, Temel RE, Runz H, Krauss RM.

Arterioscler Thromb Vasc Biol. 2014 Sep;34(9):1917-23. doi: 10.1161/ATVBAHA.113.302806. Epub 2014 Jul 17.

22.

Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation.

Blake J, Riddell A, Theiss S, Gonzalez AP, Haase B, Jauch A, Janssen JW, Ibberson D, Pavlinic D, Moog U, Benes V, Runz H.

PLoS One. 2014 Mar 13;9(3):e90894. doi: 10.1371/journal.pone.0090894. eCollection 2014.

23.

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.

te Vruchte D, Speak AO, Wallom KL, Al Eisa N, Smith DA, Hendriksz CJ, Simmons L, Lachmann RH, Cousins A, Hartung R, Mengel E, Runz H, Beck M, Amraoui Y, Imrie J, Jacklin E, Riddick K, Yanjanin NM, Wassif CA, Rolfs A, Rimmele F, Wright N, Taylor C, Ramaswami U, Cox TM, Hastings C, Jiang X, Sidhu R, Ory DS, Arias B, Jeyakumar M, Sillence DJ, Wraith JE, Porter FD, Cortina-Borja M, Platt FM.

J Clin Invest. 2014 Mar;124(3):1320-8.

24.

Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.

Speak AO, Te Vruchte D, Davis LC, Morgan AJ, Smith DA, Yanjanin NM, Simmons L, Hartung R, Runz H, Mengel E, Beck M, Imrie J, Jacklin E, Wraith JE, Hendriksz C, Lachmann R, Cognet C, Sidhu R, Fujiwara H, Ory DS, Galione A, Porter FD, Vivier E, Platt FM.

Blood. 2014 Jan 2;123(1):51-60. doi: 10.1182/blood-2013-03-488692. Epub 2013 Nov 14.

25.

Characterization of drug-induced transcriptional modules: towards drug repositioning and functional understanding.

Iskar M, Zeller G, Blattmann P, Campillos M, Kuhn M, Kaminska KH, Runz H, Gavin AC, Pepperkok R, van Noort V, Bork P.

Mol Syst Biol. 2013;9:662. doi: 10.1038/msb.2013.20.

26.

Prenatal-onset Niemann-Pick type C disease with nonimmune hydrops fetalis.

Surmeli-Onay O, Yakarisik S, Korkmaz A, Akcoren Z, Yuce A, Runz H, Stampfer M, Yurdakok M.

Pediatr Neonatol. 2013 Oct;54(5):344-7. doi: 10.1016/j.pedneo.2013.01.015. Epub 2013 Mar 11.

27.

A frequent PNPLA3 variant is a sex specific disease modifier in PSC patients with bile duct stenosis.

Friedrich K, Rupp C, Hov JR, Steinebrunner N, Weiss KH, Stiehl A, Brune M, Schaefer PK, Schemmer P, Sauer P, Schirmacher P, Runz H, Karlsen TH, Stremmel W, Gotthardt DN.

PLoS One. 2013;8(3):e58734. doi: 10.1371/journal.pone.0058734. Epub 2013 Mar 7.

28.

RNAi-based functional profiling of loci from blood lipid genome-wide association studies identifies genes with cholesterol-regulatory function.

Blattmann P, Schuberth C, Pepperkok R, Runz H.

PLoS Genet. 2013;9(2):e1003338. doi: 10.1371/journal.pgen.1003338. Epub 2013 Feb 28.

29.

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.

Stampfer M, Theiss S, Amraoui Y, Jiang X, Keller S, Ory DS, Mengel E, Fischer C, Runz H.

Orphanet J Rare Dis. 2013 Feb 22;8:35. doi: 10.1186/1750-1172-8-35.

30.

Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.

Frühmesser A, Blake J, Haberlandt E, Baying B, Raeder B, Runz H, Spreiz A, Fauth C, Benes V, Utermann G, Zschocke J, Kotzot D.

Eur J Hum Genet. 2013 Oct;21(10):1177-80. doi: 10.1038/ejhg.2013.18. Epub 2013 Feb 20.

31.

Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4.

Ellinghaus D, Folseraas T, Holm K, Ellinghaus E, Melum E, Balschun T, Laerdahl JK, Shiryaev A, Gotthardt DN, Weismüller TJ, Schramm C, Wittig M, Bergquist A, Björnsson E, Marschall HU, Vatn M, Teufel A, Rust C, Gieger C, Wichmann HE, Runz H, Sterneck M, Rupp C, Braun F, Weersma RK, Wijmenga C, Ponsioen CY, Mathew CG, Rutgeerts P, Vermeire S, Schrumpf E, Hov JR, Manns MP, Boberg KM, Schreiber S, Franke A, Karlsen TH.

Hepatology. 2013 Sep;58(3):1074-83. doi: 10.1002/hep.25977. Epub 2013 Jan 17.

PMID:
22821403
32.

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

Herzog A, Hartung R, Reuser AJ, Hermanns P, Runz H, Karabul N, Gökce S, Pohlenz J, Kampmann C, Lampe C, Beck M, Mengel E.

Orphanet J Rare Dis. 2012 Jun 7;7:35. doi: 10.1186/1750-1172-7-35.

33.

Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C.

Speak AO, Platt N, Salio M, te Vruchte D, Smith DA, Shepherd D, Veerapen N, Besra GS, Yanjanin NM, Simmons L, Imrie J, Wraith JE, Lachmann RH, Hartung R, Runz H, Mengel E, Beck M, Hendriksz CJ, Porter FD, Cerundolo V, Platt FM.

Eur J Immunol. 2012 Jul;42(7):1886-92. doi: 10.1002/eji.201141821. Epub 2012 Jun 14.

34.

Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci.

Folseraas T, Melum E, Rausch P, Juran BD, Ellinghaus E, Shiryaev A, Laerdahl JK, Ellinghaus D, Schramm C, Weismüller TJ, Gotthardt DN, Hov JR, Clausen OP, Weersma RK, Janse M, Boberg KM, Björnsson E, Marschall HU, Cleynen I, Rosenstiel P, Holm K, Teufel A, Rust C, Gieger C, Wichmann HE, Bergquist A, Ryu E, Ponsioen CY, Runz H, Sterneck M, Vermeire S, Beuers U, Wijmenga C, Schrumpf E, Manns MP, Lazaridis KN, Schreiber S, Baines JF, Franke A, Karlsen TH.

J Hepatol. 2012 Aug;57(2):366-75. doi: 10.1016/j.jhep.2012.03.031. Epub 2012 Apr 18.

35.

A deaf mother and son with diabetes and renal failure.

Schanz J, Rudofsky G, Runz H, Rath T.

Clin Kidney J. 2012 Apr;5(2):137-139. doi: 10.1093/ckj/sfs018.

36.

Integrated approaches to functionally characterize novel factors in lipoprotein metabolism.

Runz H.

Curr Opin Lipidol. 2012 Apr;23(2):104-10. doi: 10.1097/MOL.0b013e328350fc3d. Review.

PMID:
22327609
37.

Low ceruloplasmin in a patient with Niemann-Pick type C disease.

Connemann BJ, Gahr M, Schmid M, Runz H, Freudenmann RW.

J Clin Neurosci. 2012 Apr;19(4):620-1. doi: 10.1016/j.jocn.2011.05.038. Epub 2012 Jan 24.

PMID:
22269206
38.

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage.

Tängemo C, Weber D, Theiss S, Mengel E, Runz H.

J Lipid Res. 2011 Apr;52(4):813-25. doi: 10.1194/jlr.P013524. Epub 2011 Jan 17.

39.

Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci.

Melum E, Franke A, Schramm C, Weismüller TJ, Gotthardt DN, Offner FA, Juran BD, Laerdahl JK, Labi V, Björnsson E, Weersma RK, Henckaerts L, Teufel A, Rust C, Ellinghaus E, Balschun T, Boberg KM, Ellinghaus D, Bergquist A, Sauer P, Ryu E, Hov JR, Wedemeyer J, Lindkvist B, Wittig M, Porte RJ, Holm K, Gieger C, Wichmann HE, Stokkers P, Ponsioen CY, Runz H, Stiehl A, Wijmenga C, Sterneck M, Vermeire S, Beuers U, Villunger A, Schrumpf E, Lazaridis KN, Manns MP, Schreiber S, Karlsen TH.

Nat Genet. 2011 Jan;43(1):17-9. doi: 10.1038/ng.728. Epub 2010 Dec 12.

40.

Mutational characterization of the bile acid receptor TGR5 in primary sclerosing cholangitis.

Hov JR, Keitel V, Laerdahl JK, Spomer L, Ellinghaus E, ElSharawy A, Melum E, Boberg KM, Manke T, Balschun T, Schramm C, Bergquist A, Weismüller T, Gotthardt D, Rust C, Henckaerts L, Onnie CM, Weersma RK, Sterneck M, Teufel A, Runz H, Stiehl A, Ponsioen CY, Wijmenga C, Vatn MH; IBSEN Study Group, Stokkers PC, Vermeire S, Mathew CG, Lie BA, Beuers U, Manns MP, Schreiber S, Schrumpf E, Häussinger D, Franke A, Karlsen TH.

PLoS One. 2010 Aug 25;5(8):e12403. doi: 10.1371/journal.pone.0012403.

41.

Exosome secretion ameliorates lysosomal storage of cholesterol in Niemann-Pick type C disease.

Strauss K, Goebel C, Runz H, Möbius W, Weiss S, Feussner I, Simons M, Schneider A.

J Biol Chem. 2010 Aug 20;285(34):26279-88. doi: 10.1074/jbc.M110.134775. Epub 2010 Jun 16.

42.

Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.

Weiss KH, Runz H, Noe B, Gotthardt DN, Merle U, Ferenci P, Stremmel W, Füllekrug J.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S233-40. doi: 10.1007/s10545-010-9123-5. Epub 2010 Jun 2.

PMID:
20517649
43.

A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.

Rauschenberger K, Schöler K, Sass JO, Sauer S, Djuric Z, Rumig C, Wolf NI, Okun JG, Kölker S, Schwarz H, Fischer C, Grziwa B, Runz H, Nümann A, Shafqat N, Kavanagh KL, Hämmerling G, Wanders RJ, Shield JP, Wendel U, Stern D, Nawroth P, Hoffmann GF, Bartram CR, Arnold B, Bierhaus A, Oppermann U, Steinbeisser H, Zschocke J.

EMBO Mol Med. 2010 Feb;2(2):51-62. doi: 10.1002/emmm.200900055.

44.

Genome-wide association analysis in primary sclerosing cholangitis.

Karlsen TH, Franke A, Melum E, Kaser A, Hov JR, Balschun T, Lie BA, Bergquist A, Schramm C, Weismüller TJ, Gotthardt D, Rust C, Philipp EE, Fritz T, Henckaerts L, Weersma RK, Stokkers P, Ponsioen CY, Wijmenga C, Sterneck M, Nothnagel M, Hampe J, Teufel A, Runz H, Rosenstiel P, Stiehl A, Vermeire S, Beuers U, Manns MP, Schrumpf E, Boberg KM, Schreiber S.

Gastroenterology. 2010 Mar;138(3):1102-11. doi: 10.1053/j.gastro.2009.11.046. Epub 2009 Nov 26.

PMID:
19944697
45.

DetecTiff: a novel image analysis routine for high-content screening microscopy.

Gilbert DF, Meinhof T, Pepperkok R, Runz H.

J Biomol Screen. 2009 Sep;14(8):944-55. doi: 10.1177/1087057109339523. Epub 2009 Jul 29.

PMID:
19641223
46.

Identification of cholesterol-regulating genes by targeted RNAi screening.

Bartz F, Kern L, Erz D, Zhu M, Gilbert D, Meinhof T, Wirkner U, Erfle H, Muckenthaler M, Pepperkok R, Runz H.

Cell Metab. 2009 Jul;10(1):63-75. doi: 10.1016/j.cmet.2009.05.009.

47.

A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.

Gotthardt D, Runz H, Keitel V, Fischer C, Flechtenmacher C, Wirtenberger M, Weiss KH, Imparato S, Braun A, Hemminki K, Stremmel W, Rüschendorf F, Stiehl A, Kubitz R, Burwinkel B, Schirmacher P, Knisely AS, Zschocke J, Sauer P.

Hepatology. 2008 Oct;48(4):1157-66. doi: 10.1002/hep.22485.

PMID:
18781607
48.

NPC-db, a Niemann-Pick type C disease gene variation database.

Runz H, Dolle D, Schlitter AM, Zschocke J.

Hum Mutat. 2008 Mar;29(3):345-50.

PMID:
18081003
49.

Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.

Haas D, Morgenthaler J, Lacbawan F, Long B, Runz H, Garbade SF, Zschocke J, Kelley RI, Okun JG, Hoffmann GF, Muenke M.

J Med Genet. 2007 May;44(5):298-305. Epub 2007 Jan 19.

50.

Sterols regulate ER-export dynamics of secretory cargo protein ts-O45-G.

Runz H, Miura K, Weiss M, Pepperkok R.

EMBO J. 2006 Jul 12;25(13):2953-65. Epub 2006 Jun 22.

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