OpenURL Connection Search

Select item for more details and to access through your institution.

Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann- Pick disease type C.
Published in:
European Journal of Immunology, 2012, v. 42, n. 7, p. 1886, doi. 10.1002/eji.201141821
By:
- Speak, Anneliese O.;
- Platt, Nicholas;
- Salio, Mariolina;
- te Vruchte, Danielle;
- Smith, David A.;
- Shepherd, Dawn;
- Veerapen, Natacha;
- Besra, Gurdyal S.;
- Yanjanin, Nicole M.;
- Simmons, Louise;
- Imrie, Jackie;
- Wraith, James E.;
- Lachmann, Robin H.;
- Hartung, Ralf;
- Runz, Heiko;
- Mengel, Eugen;
- Beck, Michael;
- Hendriksz, Christian J.;
- Porter, Forbes D.;
- Cerundolo, Vincenzo
Publication type:
Article
Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-35974-7
By:
- Sliz, Eeva;
- Tyrmi, Jaakko S.;
- Rahmioglu, Nilufer;
- Zondervan, Krina T.;
- Becker, Christian M.;
- FinnGen;
- Palotie, Aarno;
- Daly, Mark;
- Riley-Gills, Bridget;
- Jacob, Howard;
- Paul, Dirk;
- Matakidou, Athena;
- Platt, Adam;
- Runz, Heiko;
- John, Sally;
- Okafo, George;
- Lawless, Nathan;
- Salminen-Mankonen, Heli;
- Plenge, Robert;
- Maranville, Joseph
Publication type:
Article
Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata.
Published in:
Nature Communications, 2023, v. 14, p. 1, doi. 10.1038/s41467-023-35974-7
By:
- Sliz, Eeva;
- Tyrmi, Jaakko S.;
- Rahmioglu, Nilufer;
- Zondervan, Krina T.;
- Becker, Christian M.;
- FinnGen;
- Palotie, Aarno;
- Daly, Mark;
- Riley-Gills, Bridget;
- Jacob, Howard;
- Paul, Dirk;
- Matakidou, Athena;
- Platt, Adam;
- Runz, Heiko;
- John, Sally;
- Okafo, George;
- Lawless, Nathan;
- Salminen-Mankonen, Heli;
- Plenge, Robert;
- Maranville, Joseph
Publication type:
Article
Collective genomic segments with differential pleiotropic patterns between cognitive dimensions and psychopathology.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34418-y
By:
- Lam, Max;
- Chen, Chia-Yen;
- Hill, W. David;
- Xia, Charley;
- Tian, Ruoyu;
- Levey, Daniel F.;
- Gelernter, Joel;
- Stein, Murray B.;
- Hatoum, Alexander S.;
- Huang, Hailiang;
- Malhotra, Anil K.;
- Runz, Heiko;
- Ge, Tian;
- Lencz, Todd
Publication type:
Article
A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
Published in:
EMBO Molecular Medicine, 2010, v. 2, n. 2, p. 51, doi. 10.1002/emmm.200900055
By:
- Rauschenberger, Katharina;
- Schöler, Katja;
- Sass, Jörn Oliver;
- Sauer, Sven;
- Djuric, Zdenka;
- Rumig, Cordula;
- Wolf, Nicole I.;
- Okun, Jürgen G.;
- Kölker, Stefan;
- Schwarz, Heinz;
- Fischer, Christine;
- Grziwa, Beate;
- Runz, Heiko;
- Nümann, Astrid;
- Shafqat, Naeem;
- Kavanagh, Kathryn L.;
- Hämmerling, Günter;
- Wanders, Ronald J. A.;
- Shield, Julian P. H.;
- Wendel, Udo
Publication type:
Article
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-35
By:
- Stampfer, Miriam;
- Theiss, Susanne;
- Amraoui, Yasmina;
- Jiang, Xuntian;
- Keller, Sigrid;
- Ory, Daniel S.;
- Mengel, Eugen;
- Fischer, Christine;
- Runz, Heiko
Publication type:
Article
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.
Published in:
2013
By:
- Stampfer, Miriam;
- Theiss, Susanne;
- Amraoui, Yasmina;
- Jiang, Xuntian;
- Keller, Sigrid;
- Ory, Daniel S;
- Mengel, Eugen;
- Fischer, Christine;
- Runz, Heiko
Publication type:
journal article
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.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 35, doi. 10.1186/1750-1172-7-35
By:
- Herzog, Andreas;
- Hartung, Ralf;
- Reuser, Arnold J. J.;
- Hermanns, Pia;
- Runz, Heiko;
- Karabul, Nesrin;
- G�kce, Seyfullah;
- Pohlenz, Joachim;
- Kampmann, Christoph;
- Lampe, Christina;
- Beck, Michael;
- Mengel, Eugen
Publication type:
Article
Sterols regulate ER-export dynamics of secretory cargo protein ts-O45-G.
Published in:
EMBO Journal, 2006, v. 25, n. 13, p. 2953, doi. 10.1038/sj.emboj.7601205
By:
- Runz, Heiko;
- Miura, Kota;
- Weiss, Matthias;
- Pepperkok, Rainer
Publication type:
Article
Recalling Biobank Participants to Clinical Study of Alzheimer's Disease – FinnGen Pilot Study.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, n. 22, p. 1, doi. 10.1002/alz.079501
By:
- Julkunen, Valtteri;
- Schwarz, Claudia;
- Kalapudas, Juho;
- Hallikainen, Merja;
- Piironen, Aino‐Kaisa;
- Mannermaa, Arto;
- Kujala, Hanna;
- Laitinen, Timo;
- Kosma, Veli‐Matti;
- Paajanen, Teemu;
- Kälviäinen, Reetta;
- Hiltunen, Mikko;
- Herukka, Sanna‐Kaisa;
- Kärkkäinen, Sari;
- Kokkola, Tarja;
- Urjansson, Mia;
- Perola, Markus;
- Palotie, Aarno;
- Runz, Heiko;
- Vuoksimaa, Eero
Publication type:
Article
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
Published in:
2014
By:
- te Vruchte, Danielle;
- Speak, Anneliese O;
- Wallom, Kerri L;
- Al Eisa, Nada;
- Smith, David A;
- Hendriksz, Christian J;
- Simmons, Louise;
- Lachmann, Robin H;
- Cousins, Alison;
- Hartung, Ralf;
- Mengel, Eugen;
- Runz, Heiko;
- Beck, Michael;
- Amraoui, Yasmina;
- Imrie, Jackie;
- Jacklin, Elizabeth;
- Riddick, Kate;
- Yanjanin, Nicole M;
- Wassif, Christopher A;
- Rolfs, Arndt
Publication type:
journal article
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
Published in:
Journal of Clinical Investigation, 2014, v. 124, n. 3, p. 1320, doi. 10.1172/JCI72835
By:
- te Vruchte, Danielle;
- Speak, Anneliese O.;
- Wallom, Kerri L.;
- Al Eisa, Nada;
- Smith, David A.;
- Hendriksz, Christian J.;
- Simmons, Louise;
- Lachmann, Robin H.;
- Cousins, Alison;
- Hartung, Ralf;
- Mengel, Eugen;
- Runz, Heiko;
- Beck, Michael;
- Amraoui, Yasmina;
- Imrie, Jackie;
- Jacklin, Elizabeth;
- Riddick, Kate;
- Yanjanin, Nicole M.;
- Wassif, Christopher A.;
- Rolfs, Arndt
Publication type:
Article
Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes.
Published in:
Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-021-02996-0
By:
- Tamlander, Max;
- Mars, Nina;
- Pirinen, Matti;
- FinnGen;
- Steering Committee;
- Palotie, Aarno;
- Daly, Mark;
- Pharmaceutical companies;
- Riley-Gills, Bridget;
- Jacob, Howard;
- Paul, Dirk;
- Runz, Heiko;
- John, Sally;
- Plenge, Robert;
- Maranville, Joseph;
- Okafo, George;
- Lawless, Nathan;
- Salminen-Mankonen, Heli;
- McCarthy, Mark;
- Hunkapiller, Julie
Publication type:
Article
Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptake.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26761-3
By:
- Zimoń, Magdalena;
- Huang, Yunfeng;
- Trasta, Anthi;
- Halavatyi, Aliaksandr;
- Liu, Jimmy Z.;
- Chen, Chia-Yen;
- Blattmann, Peter;
- Klaus, Bernd;
- Whelan, Christopher D.;
- Sexton, David;
- John, Sally;
- Huber, Wolfgang;
- Tsai, Ellen A.;
- Pepperkok, Rainer;
- Runz, Heiko
Publication type:
Article
Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45774-2
By:
- Tian, Ruoyu;
- Ge, Tian;
- Kweon, Hyeokmoon;
- Rocha, Daniel B.;
- Lam, Max;
- Liu, Jimmy Z.;
- Singh, Kritika;
- Levey, Daniel F.;
- Gelernter, Joel;
- Stein, Murray B.;
- Tsai, Ellen A.;
- Huang, Hailiang;
- Chabris, Christopher F.;
- Lencz, Todd;
- Runz, Heiko;
- Chen, Chia-Yen
Publication type:
Article
Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45774-2
By:
- Tian, Ruoyu;
- Ge, Tian;
- Kweon, Hyeokmoon;
- Rocha, Daniel B.;
- Lam, Max;
- Liu, Jimmy Z.;
- Singh, Kritika;
- Biogen Biobank Team;
- Levey, Daniel F.;
- Gelernter, Joel;
- Stein, Murray B.;
- Tsai, Ellen A.;
- Huang, Hailiang;
- Chabris, Christopher F.;
- Lencz, Todd;
- Runz, Heiko;
- Chen, Chia-Yen
Publication type:
Article
Sequencing of a Patient with Balanced Chromosome Abnormalities and Neurodevelopmental Disease Identifies Disruption of Multiple High Risk Loci by Structural Variation.
Published in:
PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090894
By:
- Blake, Jonathon;
- Riddell, Andrew;
- Theiss, Susanne;
- Gonzalez, Alexis Perez;
- Haase, Bettina;
- Jauch, Anna;
- Janssen, Johannes W. G.;
- Ibberson, David;
- Pavlinic, Dinko;
- Moog, Ute;
- Benes, Vladimir;
- Runz, Heiko
Publication type:
Article
A Frequent <i>PNPLA3</i> Variant Is a Sex Specific Disease Modifier in PSC Patients with Bile Duct Stenosis.
Published in:
PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0058734
By:
- Friedrich, Kilian;
- Rupp, Christian;
- Hov, Johannes Roksund;
- Steinebrunner, Niels;
- Weiss, Karl-Heinz;
- Stiehl, Adolf;
- Brune, Maik;
- Schaefer, Petra Kloeters Yvonne;
- Schemmer, Peter;
- Sauer, Peter;
- Schirmacher, Peter;
- Runz, Heiko;
- Karlsen, Tom Hemming;
- Stremmel, Wolfgang;
- Gotthardt, Daniel Nils
Publication type:
Article
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.
Published in:
2018
By:
- Cortina-Borja, Mario;
- Te Vruchte, Danielle;
- Mengel, Eugen;
- Amraoui, Yasmin;
- Imrie, Jackie;
- Jones, Simon A;
- I Dali, Christine;
- Fineran, Paul;
- Kirkegaard, Thomas;
- Runz, Heiko;
- Lachmann, Robin;
- Bremova-Ertl, Tatiana;
- Strupp, Michael;
- Platt, Frances M
Publication type:
journal article
Identifying drug targets for neurological and psychiatric disease via genetics and the brain transcriptome.
Published in:
PLoS Genetics, 2021, v. 17, n. 1, p. 1, doi. 10.1371/journal.pgen.1009224
By:
- Baird, Denis A.;
- Liu, Jimmy Z.;
- Zheng, Jie;
- Sieberts, Solveig K.;
- Perumal, Thanneer;
- Elsworth, Benjamin;
- Richardson, Tom G.;
- Chen, Chia-Yen;
- Carrasquillo, Minerva M.;
- Allen, Mariet;
- Reddy, Joseph S.;
- De Jager, Philip L.;
- Ertekin-Taner, Nilufer;
- Mangravite, Lara M.;
- Logsdon, Ben;
- Estrada, Karol;
- Haycock, Philip C.;
- Hemani, Gibran;
- Runz, Heiko;
- Smith, George Davey
Publication type:
Article
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1177, doi. 10.1038/ejhg.2013.18
By:
- Frühmesser, Anne;
- Blake, Jonathon;
- Haberlandt, Edda;
- Baying, Bianka;
- Raeder, Benjamin;
- Runz, Heiko;
- Spreiz, Ana;
- Fauth, Christine;
- Benes, Vladimir;
- Utermann, Gerd;
- Zschocke, Johannes;
- Kotzot, Dieter
Publication type:
Article
Characterization of drug-induced transcriptional modules: towards drug repositioning and functional understanding.
Published in:
Molecular Systems Biology, 2013, v. 9, n. 1, p. 1, doi. 10.1038/msb.2013.20
By:
- Iskar, Murat;
- Zeller, Georg;
- Blattmann, Peter;
- Campillos, Monica;
- Kuhn, Michael;
- Kaminska, Katarzyna H.;
- Runz, Heiko;
- Gavin, Anne-Claude;
- Pepperkok, Rainer;
- Noort, Vera van;
- Bork, Peer
Publication type:
Article
A deaf mother and son with diabetes and renal failure.
Published in:
Clinical Kidney Journal, 2012, v. 5, n. 2, p. 137, doi. 10.1093/ckj/sfs018
By:
- Schanz, Jurik;
- Rudofsky, Gottfried;
- Runz, Heiko;
- Rath, Thomas
Publication type:
Article
Development of a bile acid–based newborn screen for Niemann-Pick disease type C.
Published in:
Science Translational Medicine, 2016, v. 8, n. 337, p. 1, doi. 10.1126/scitranslmed.aaf2326
By:
- Xuntian Jiang;
- Sidhu, Rohini;
- Mydock-McGrane, Laurel;
- Fong-Fu Hsu;
- Covey, Douglas F.;
- Scherrer, David E.;
- Earley, Brian;
- Gale, Sarah E.;
- Farhat, Nicole Y.;
- Porter, Forbes D.;
- Dietzen, Dennis J.;
- Orsini, Joseph J.;
- Berry-Kravis, Elizabeth;
- Xiaokui Zhang;
- Reunert, Janice;
- Marquardt, Thorsten;
- Runz, Heiko;
- Giugliani, Roberto;
- Schaffer, Jean E.;
- Ory, Daniel S.
Publication type:
Article
PICALO: principal interaction component analysis for the identification of discrete technical, cell-type, and environmental factors that mediate eQTLs.
Published in:
Genome Biology, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s13059-023-03151-0
By:
- Vochteloo, Martijn;
- Deelen, Patrick;
- Vink, Britt;
- Tsai, Ellen A.;
- Runz, Heiko;
- Andreu-Sánchez, Sergio;
- Fu, Jingyuan;
- Zhernakova, Alexandra;
- Westra, Harm-Jan;
- Franke, Lude
Publication type:
Article
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. 233, doi. 10.1007/s10545-010-9123-5
By:
- Weiss, Karl Heinz;
- Runz, Heiko;
- Noe, Barbara;
- Gotthardt, Daniel Nils;
- Merle, Uta;
- Ferenci, Peter;
- Stremmel, Wolfgang;
- Füllekrug, Joachim
Publication type:
Article
Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 16, p. 3588, doi. 10.1093/hmg/ddw204
By:
- Ebrahimi-Fakhari, Darius;
- Wahlster, Lara;
- Bartz, Fabian;
- Werenbeck-Ueding, Jennifer;
- Praggastis, Maria;
- Zhang, Jessie;
- Joggerst-Thomalla, Brigitte;
- Theiss, Susanne;
- Grimm, Dirk;
- Ory, Daniel S.;
- Runz, Heiko
Publication type:
Article
Author Correction: Genome‐wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06231-z
By:
- Yao, Chen;
- Chen, George;
- Song, Ci;
- Keefe, Joshua;
- Mendelson, Michael;
- Huan, Tianxiao;
- Sun, Benjamin B.;
- Laser, Annika;
- Maranville, Joseph C.;
- Wu, Hongsheng;
- Ho, Jennifer E.;
- Courchesne, Paul;
- Lyass, Asya;
- Larson, Martin G.;
- Gieger, Christian;
- Graumann, Johannes;
- Johnson, Andrew D.;
- Danesh, John;
- Runz, Heiko;
- Hwang, Shih-Jen
Publication type:
Article
Genome‐wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-05512-x
By:
- Yao, Chen;
- Chen, George;
- Song, Ci;
- Keefe, Joshua;
- Mendelson, Michael;
- Huan, Tianxiao;
- Sun, Benjamin B.;
- Laser, Annika;
- Maranville, Joseph C.;
- Wu, Hongsheng;
- Ho, Jennifer E.;
- Courchesne, Paul;
- Lyass, Asya;
- Larson, Martin G.;
- Gieger, Christian;
- Graumann, Johannes;
- Johnson, Andrew D.;
- Danesh, John;
- Runz, Heiko;
- Hwang, Shih-Jen
Publication type:
Article
PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants.
Published in:
Genome Biology, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s13059-018-1546-6
By:
- Bodea, Corneliu A.;
- Mitchell, Adele A.;
- Bloemendal, Alex;
- Day-Williams, Aaron G.;
- Runz, Heiko;
- Sunyaev, Shamil R.
Publication type:
Article
Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction.
Published in:
PLoS Genetics, 2015, v. 11, n. 2, p. 1, doi. 10.1371/journal.pgen.1004855
By:
- Thormaehlen, Aenne S.;
- Schuberth, Christian;
- Won, Hong-Hee;
- Blattmann, Peter;
- Joggerst-Thomalla, Brigitte;
- Theiss, Susanne;
- Asselta, Rosanna;
- Duga, Stefano;
- Merlini, Pier Angelica;
- Ardissino, Diego;
- Lander, Eric S.;
- Gabriel, Stacey;
- Rader, Daniel J.;
- Peloso, Gina M.;
- Pepperkok, Rainer;
- Kathiresan, Sekar;
- Runz, Heiko
Publication type:
Article
RNAi-Based Functional Profiling of Loci from Blood Lipid Genome-Wide Association Studies Identifies Genes with Cholesterol-Regulatory Function.
Published in:
PLoS Genetics, 2013, v. 9, n. 2, p. 1, doi. 10.1371/journal.pgen.1003338
By:
- Blattmann, Peter;
- Schuberth, Christian;
- Pepperkok, Rainer;
- Runz, Heiko
Publication type:
Article
NPC-db, a Niemann-Pick type C disease gene variation database.
Published in:
2008
By:
- Runz, Heiko;
- Dolle, Dirk;
- Schlitter, Anna Melissa;
- Zschocke, Johannes
Publication type:
Other
Systematic discovery of gene-environment interactions underlying the human plasma proteome in UK Biobank.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-51744-5
By:
- Hillary, Robert F.;
- Gadd, Danni A.;
- Kuncheva, Zhana;
- Mangelis, Tasos;
- Lin, Tinchi;
- Ferber, Kyle;
- McLaughlin, Helen;
- Runz, Heiko;
- Marshall, Eric;
- Marioni, Riccardo E.;
- Foley, Christopher N.;
- Sun, Benjamin B.
Publication type:
Article
NTHL1 is a recessive cancer susceptibility gene.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-47441-w
By:
- Nurmi, Anna K.;
- Pelttari, Liisa M.;
- Kiiski, Johanna I.;
- Khan, Sofia;
- Nurmikolu, Mika;
- Suvanto, Maija;
- Aho, Niina;
- Tasmuth, Tiina;
- Kalso, Eija;
- Schleutker, Johanna;
- Kallioniemi, Anne;
- Heikkilä, Päivi;
- FinnGen;
- Palotie, Aarno;
- Daly, Mark;
- Riley-Gillis, Bridget;
- Jacob, Howard;
- Paul, Dirk;
- Petrovski, Slavé;
- Runz, Heiko
Publication type:
Article
Genome-wide study of longitudinal brain imaging measures of multiple sclerosis progression across six clinical trials.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41099-0
By:
- Loomis, Stephanie J.;
- Sadhu, Nilanjana;
- Fisher, Elizabeth;
- Gafson, Arie R.;
- Huang, Yunfeng;
- Yang, Chengran;
- Hughes, Emily E.;
- Marshall, Eric;
- Herman, Ann;
- John, Sally;
- Runz, Heiko;
- Jia, Xiaoming;
- Bhangale, Tushar;
- Bronson, Paola G.
Publication type:
Article

Found: 36