Search Results - "Runz, Heiko"

Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases by Zheng, Jie, Haberland, Valeriia, Baird, Denis, Walker, Venexia, Haycock, Philip C., Hurle, Mark R., Gutteridge, Alex, Erola, Pau, Liu, Yi, Luo, Shan, Robinson, Jamie, Richardson, Tom G., Staley, James R., Elsworth, Benjamin, Burgess, Stephen, Sun, Benjamin B., Danesh, John, Runz, Heiko, Maranville, Joseph C., Martin, Hannah M., Yarmolinsky, James, Laurin, Charles, Holmes, Michael V., Liu, Jimmy Z., Estrada, Karol, Santos, Rita, McCarthy, Linda, Waterworth, Dawn, Nelson, Matthew R., Smith, George Davey, Butterworth, Adam S., Hemani, Gibran, Scott, Robert A., Gaunt, Tom R.

“…The human proteome is a major source of therapeutic targets. Recent genetic association analyses of the plasma proteome enable systematic evaluation of the…”
Get full text

Genome‐wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease 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, Liu, Chunyu, Butterworth, Adam S., Suhre, Karsten, Levy, Daniel

“…Identifying genetic variants associated with circulating protein concentrations (protein quantitative trait loci; pQTLs) and integrating them with variants…”
Get full text

Exosome Secretion Ameliorates Lysosomal Storage of Cholesterol in Niemann-Pick Type C Disease by Strauss, Katrin, Goebel, Cornelia, Runz, Heiko, Möbius, Wiebke, Weiss, Sievert, Feussner, Ivo, Simons, Mikael, Schneider, Anja

“…Niemann-Pick type C1 disease is an autosomal-recessive lysosomal storage disorder. Loss of function of the npc1 gene leads to abnormal accumulation of free…”
Get full text

RNAi-based functional profiling of loci from blood lipid genome-wide association studies identifies genes with cholesterol-regulatory function by Blattmann, Peter, Schuberth, Christian, Pepperkok, Rainer, Runz, Heiko

“…Genome-wide association studies (GWAS) are powerful tools to unravel genomic loci associated with common traits and complex human disease. However, GWAS only…”
Get full text

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

“…Niemann-Pick type C disease (NP-C) is a progressive lysosomal lipid storage disease caused by mutations in the NPC1 and NPC2 genes. NPC1 is essential for…”
Get full text

Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptake 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

“…Complex traits are characterized by multiple genes and variants acting simultaneously on a phenotype. However, studying the contribution of individual pairs of…”
Get full text

PICALO: principal interaction component analysis for the identification of discrete technical, cell-type, and environmental factors that mediate eQTLs by Vochteloo, Martijn, Deelen, Patrick, Vink, Britt, Tsai, Ellen A, Runz, Heiko, Andreu-Sánchez, Sergio, Fu, Jingyuan, Zhernakova, Alexandra, Westra, Harm-Jan, Franke, Lude

“…Expression quantitative trait loci (eQTL) offer insights into the regulatory mechanisms of trait-associated variants, but their effects often rely on contexts…”
Get full text

Systematic discovery of gene-environment interactions underlying the human plasma proteome in UK Biobank by Hillary, Robert F., Gadd, Danni A., Kuncheva, Zhana, Mangelis, Tasos, Lin, Tinchi, Ferber, Kyle, McLaughlin, Helen, Runz, Heiko, Marioni, Riccardo E., Foley, Christopher N., Sun, Benjamin B.

“…Understanding how gene-environment interactions (GEIs) influence the circulating proteome could aid in biomarker discovery and validation. The presence of GEIs…”
Get full text

Identifying drug targets for neurological and psychiatric disease via genetics and the brain transcriptome 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, Gaunt, Tom R

“…Discovering drugs that efficiently treat brain diseases has been challenging. Genetic variants that modulate the expression of potential drug targets can be…”
Get full text

Development of a bile acid-based newborn screen for Niemann-Pick disease type C by Jiang, Xuntian, Sidhu, Rohini, Mydock-McGrane, Laurel, Hsu, Fong-Fu, 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, Zhang, Xiaokui, Reunert, Janice, Marquardt, Thorsten, Runz, Heiko, Giugliani, Roberto, Schaffer, Jean E, Ory, Daniel S

“…Niemann-Pick disease type C (NPC) is a fatal, neurodegenerative, cholesterol storage disorder. With new therapeutics in clinical trials, it is imperative to…”
Get more information

Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression 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

“…Nearly two hundred common-variant depression risk loci have been identified by genome-wide association studies (GWAS). However, the impact of rare coding…”
Get full text

Genome-wide study of longitudinal brain imaging measures of multiple sclerosis progression across six clinical trials 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.

“…While the genetics of MS risk susceptibility are well-described, and recent progress has been made on the genetics of disease severity, the genetics of disease…”
Get full text

Characterization of drug‐induced transcriptional modules: towards drug repositioning and functional understanding by Iskar, Murat, Zeller, Georg, Blattmann, Peter, Campillos, Monica, Kuhn, Michael, Kaminska, Katarzyna H, Runz, Heiko, Gavin, Anne‐Claude, Pepperkok, Rainer, van Noort, Vera, Bork, Peer

“…In pharmacology, it is crucial to understand the complex biological responses that drugs elicit in the human organism and how well they can be inferred from…”
Get full text

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

“…Niemann-Pick disease type C (NPC) is a lysosomal storage disease with a heterogeneous neurodegenerative clinical course. Multiple therapies are in clinical…”
Get full text

Collective genomic segments with differential pleiotropic patterns between cognitive dimensions and psychopathology 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

“…Cognitive deficits are known to be related to most forms of psychopathology. Here, we perform local genetic correlation analysis as a means of identifying…”
Get full text

Identification of Cholesterol-Regulating Genes by Targeted RNAi Screening by Bartz, Fabian, Kern, Luise, Erz, Dorothee, Zhu, Mingang, Gilbert, Daniel, Meinhof, Till, Wirkner, Ute, Erfle, Holger, Muckenthaler, Martina, Pepperkok, Rainer, Runz, Heiko

“…Elevated plasma cholesterol levels are considered responsible for excess cardiovascular morbidity and mortality. Cholesterol in plasma is tightly controlled by…”
Get full text

Genetic map of regional sulcal morphology in the human brain from UK biobank data by Sun, Benjamin B., Loomis, Stephanie J., Pizzagalli, Fabrizio, Shatokhina, Natalia, Painter, Jodie N., Foley, Christopher N., Jensen, Megan E., McLaren, Donald G., Chintapalli, Sai Spandana, Zhu, Alyssa H., Dixon, Daniel, Islam, Tasfiya, Ba Gari, Iyad, Runz, Heiko, Medland, Sarah E., Thompson, Paul M., Jahanshad, Neda, Whelan, Christopher D.

“…Genetic associations with macroscopic brain structure can provide insights into brain function and disease. However, specific associations with measures of…”
Get full text

PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants by Bodea, Corneliu A, Mitchell, Adele A, Bloemendal, Alex, Day-Williams, Aaron G, Runz, Heiko, Sunyaev, Shamil R

“…Functional characterization of the noncoding genome is essential for biological understanding of gene regulation and disease. Here, we introduce the…”
Get full text

Rare genetic variants impact muscle strength by Huang, Yunfeng, Bodnar, Dora, Chen, Chia-Yen, Sanchez-Andrade, Gabriela, Sanderson, Mark, Shi, Jun, Meilleur, Katherine G., Hurles, Matthew E., Gerety, Sebastian S., Tsai, Ellen A., Runz, Heiko

“…Muscle strength is highly heritable and predictive for multiple adverse health outcomes including mortality. Here, we present a rare protein-coding variant…”
Get full text

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators by Stampfer, Miriam, Theiss, Susanne, Amraoui, Yasmina, Jiang, Xuntian, Keller, Sigrid, Ory, Daniel S, Mengel, Eugen, Fischer, Christine, Runz, Heiko

“…The neurodegenerative lysosomal storage disorder Niemann-Pick disease type C (NP-C) is characterized by a broad clinical variability involving neurological,…”
Get full text