Ponto, Claudia

[["dc.bibliographiccitation.firstpage","S90"],["dc.bibliographiccitation.journal","Prion"],["dc.bibliographiccitation.lastpage","S91"],["dc.bibliographiccitation.volume","9"],["dc.contributor.author","Minikel, Eric Vallabh"],["dc.contributor.author","Vallabh, Sonia M."],["dc.contributor.author","Lek, Monkol"],["dc.contributor.author","Estrada, Karol O."],["dc.contributor.author","Samocha, Kaitlin E."],["dc.contributor.author","Sathirapongsasuti, J. Fah"],["dc.contributor.author","McLean, Cory Y."],["dc.contributor.author","Tung, Joyce Y."],["dc.contributor.author","Yu, Linda P. C."],["dc.contributor.author","Gambetti, Pierluigi"],["dc.contributor.author","Blevins, Janis"],["dc.contributor.author","Zhang, S."],["dc.contributor.author","Cohen, Yvonne"],["dc.contributor.author","Chen, Wei"],["dc.contributor.author","Yamada, Masahito"],["dc.contributor.author","Hamaguchi, Tsuyoshi"],["dc.contributor.author","Sanjo, Nobuo"],["dc.contributor.author","Mizusawa, Hidehiro"],["dc.contributor.author","Nakamura, Yosikazu"],["dc.contributor.author","Kitamoto, Tetsuyuki"],["dc.contributor.author","Collins, Steven J."],["dc.contributor.author","Boyd, Alison"],["dc.contributor.author","Will, Robert G."],["dc.contributor.author","Knight, Richard"],["dc.contributor.author","Ponto, Claudia"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Kraus, Theo F. J."],["dc.contributor.author","Eigenbrod, Sabina"],["dc.contributor.author","Giese, Armin"],["dc.contributor.author","Calero, Miguel"],["dc.contributor.author","de Pedro-Cuesta, Jesus"],["dc.contributor.author","Haik, Stephane"],["dc.contributor.author","Laplanche, Jean-Louis"],["dc.contributor.author","Bouaziz-Amar, Elodie"],["dc.contributor.author","Brandel, Jean-Philippe"],["dc.contributor.author","Capellari, Sabina"],["dc.contributor.author","Parchi, Piero"],["dc.contributor.author","O'Donnell-Luria, Anne H."],["dc.contributor.author","Karczewski, Konrad J."],["dc.contributor.author","Marshall, Jamie L."],["dc.contributor.author","Boehnke, Michael"],["dc.contributor.author","Laakso, Markku"],["dc.contributor.author","Mohlke, Karen L."],["dc.contributor.author","Kahler, Anna"],["dc.contributor.author","Chambert, Kimberly"],["dc.contributor.author","McCarroll, Steven"],["dc.contributor.author","Sullivan, Patrick F."],["dc.contributor.author","Hultman, Christina M."],["dc.contributor.author","Purcell, Shaun M."],["dc.contributor.author","Sklar, Pamela"],["dc.contributor.author","van der Lee, Sven J."],["dc.contributor.author","Rozemuller, Annemieke"],["dc.contributor.author","Jansen, Casper"],["dc.contributor.author","Hofman, Albert"],["dc.contributor.author","Kraaij, Robert"],["dc.contributor.author","van Rooij, Jeroen G. J."],["dc.contributor.author","Ikram, M. Arfan"],["dc.contributor.author","Uitterlinden, Andre G."],["dc.contributor.author","van Duijn, Cornelia M."],["dc.contributor.author","Daly, Mark J."],["dc.contributor.author","MacArthur, Daniel G."],["dc.date.accessioned","2018-11-07T09:58:20Z"],["dc.date.available","2018-11-07T09:58:20Z"],["dc.date.issued","2015"],["dc.identifier.isi","000354444900168"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/37345"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Taylor & Francis Inc"],["dc.publisher.place","Philadelphia"],["dc.relation.issn","1933-690X"],["dc.relation.issn","1933-6896"],["dc.title","Assessing the pathogenicity of rare PRNP variants by comparing case and control allele frequency"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","322ra9"],["dc.bibliographiccitation.issue","322"],["dc.bibliographiccitation.journal","Science Translational Medicine"],["dc.bibliographiccitation.volume","8"],["dc.contributor.author","Minikel, Eric Vallabh"],["dc.contributor.author","Vallabh, Sonia M."],["dc.contributor.author","Lek, Monkol"],["dc.contributor.author","Estrada, Karol O."],["dc.contributor.author","Samocha, Kaitlin E."],["dc.contributor.author","Sathirapongsasuti, J. Fah"],["dc.contributor.author","McLean, Cory Y."],["dc.contributor.author","Tung, Joyce Y."],["dc.contributor.author","Yu, Linda P. C."],["dc.contributor.author","Gambetti, Pierluigi"],["dc.contributor.author","Blevins, Janis"],["dc.contributor.author","Zhang, S."],["dc.contributor.author","Cohen, Yvonne"],["dc.contributor.author","Chen, Wei"],["dc.contributor.author","Yamada, Masahito"],["dc.contributor.author","Hamaguchi, Tsuyoshi"],["dc.contributor.author","Sanjo, Nobuo"],["dc.contributor.author","Mizusawa, Hidehiro"],["dc.contributor.author","Nakamura, Yosikazu"],["dc.contributor.author","Kitamoto, Tetsuyuki"],["dc.contributor.author","Collins, Steven J."],["dc.contributor.author","Boyd, Alison"],["dc.contributor.author","Will, Robert G."],["dc.contributor.author","Knight, Richard"],["dc.contributor.author","Ponto, Claudia"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Kraus, Theo F. J."],["dc.contributor.author","Eigenbrod, Sabina"],["dc.contributor.author","Giese, Armin"],["dc.contributor.author","Calero, Miguel"],["dc.contributor.author","de Pedro-Cuesta, Jesus"],["dc.contributor.author","HaiK, Stephane"],["dc.contributor.author","Laplanche, Jean-Louis"],["dc.contributor.author","Bouaziz-Amar, Elodie"],["dc.contributor.author","Brandel, Jean-Philippe"],["dc.contributor.author","Capellari, Sabina"],["dc.contributor.author","Parchi, Piero"],["dc.contributor.author","Poleggi, Anna"],["dc.contributor.author","Ladogana, Anna"],["dc.contributor.author","O'Donnell-Luria, Anne H."],["dc.contributor.author","Karczewski, Konrad J."],["dc.contributor.author","Marshall, Jamie L."],["dc.contributor.author","Boehnke, Michael"],["dc.contributor.author","Laakso, Markku"],["dc.contributor.author","Mohlke, Karen L."],["dc.contributor.author","Kahler, Anna"],["dc.contributor.author","Chambert, Kimberly"],["dc.contributor.author","McCarroll, Steven"],["dc.contributor.author","Sullivan, Patrick F."],["dc.contributor.author","Hultman, Christina M."],["dc.contributor.author","Purcell, Shaun M."],["dc.contributor.author","Sklar, Pamela"],["dc.contributor.author","van der Lee, Sven J."],["dc.contributor.author","Rozemuller, Annemieke"],["dc.contributor.author","Jansen, Casper"],["dc.contributor.author","Hofman, Albert"],["dc.contributor.author","Kraaij, Robert"],["dc.contributor.author","van Rooij, Jeroen G. J."],["dc.contributor.author","Ikram, M. Arfan"],["dc.contributor.author","Uitterlinden, Andre G."],["dc.contributor.author","van Duijn, Cornelia M."],["dc.contributor.author","Daly, Mark J."],["dc.contributor.author","MacArthur, Daniel G."],["dc.date.accessioned","2018-11-07T10:19:18Z"],["dc.date.available","2018-11-07T10:19:18Z"],["dc.date.issued","2016"],["dc.description.abstract","More than 100,000 genetic variants are reported to cause Mendelian disease in humans, but the penetrance-the probability that a carrier of the purported disease-causing genotype will indeed develop the disease-is generally unknown. We assess the impact of variants in the prion protein gene (PRNP) on the risk of prion disease by analyzing 16,025 prion disease cases, 60,706 population control exomes, and 531,575 individuals genotyped by 23andMe Inc. We show that missense variants in PRNP previously reported to be pathogenic are at least 30 times more common in the population than expected on the basis of genetic prion disease prevalence. Although some of this excess can be attributed to benign variants falsely assigned as pathogenic, other variants have genuine effects on disease susceptibility but confer lifetime risks ranging from < 0.1 to similar to 100%. We also show that truncating variants in PRNP have position-dependent effects, with true loss-of-function alleles found in healthy older individuals, a finding that supports the safety of therapeutic suppression of prion protein expression."],["dc.identifier.doi","10.1126/scitranslmed.aad5169"],["dc.identifier.isi","000368511300005"],["dc.identifier.pmid","26791950"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/41634"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Amer Assoc Advancement Science"],["dc.relation.issn","1946-6242"],["dc.relation.issn","1946-6234"],["dc.title","Quantifying prion disease penetrance using large population control cohorts"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","e0123654"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","PLoS ONE"],["dc.bibliographiccitation.volume","10"],["dc.contributor.author","Sanchez-Juan, Pascual"],["dc.contributor.author","Bishop, Matthew T."],["dc.contributor.author","Kovacs, Gabor G."],["dc.contributor.author","Calero, Miguel"],["dc.contributor.author","Aulchenko, Yurii S."],["dc.contributor.author","Ladogana, Anna"],["dc.contributor.author","Boyd, Alison"],["dc.contributor.author","Lewis, Victoria"],["dc.contributor.author","Ponto, Claudia"],["dc.contributor.author","Calero, Olga"],["dc.contributor.author","Poleggi, Anna"],["dc.contributor.author","Carracedo, Angel"],["dc.contributor.author","van der Lee, Sven J."],["dc.contributor.author","Stroebel, Thomas"],["dc.contributor.author","Rivadeneira, Fernando"],["dc.contributor.author","Hofman, Albert"],["dc.contributor.author","Haik, Stephane"],["dc.contributor.author","Combarros, Onofre"],["dc.contributor.author","Berciano, Jose"],["dc.contributor.author","Uitterlinden, Andre G."],["dc.contributor.author","Collins, Steven J."],["dc.contributor.author","Budka, Herbert"],["dc.contributor.author","Brandel, Jean-Philippe"],["dc.contributor.author","Louis Laplanche, Jean"],["dc.contributor.author","Pocchiari, Maurizio"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Knight, Richard S. G."],["dc.contributor.author","Will, Robert G."],["dc.contributor.author","van Duijn, Cornelia M."],["dc.date.accessioned","2018-11-07T09:58:17Z"],["dc.date.available","2018-11-07T09:58:17Z"],["dc.date.issued","2015"],["dc.description.abstract","We performed a genome-wide association (GWA) study in 434 sporadic Creutzfeldt-Jakob disease (sCJD) patients and 1939 controls from the United Kingdom, Germany and The Netherlands. The findings were replicated in an independent sample of 1109 sCJD and 2264 controls provided by a multinational consortium. From the initial GWA analysis we selected 23 SNPs for further genotyping in 1109 sCJD cases from seven different countries. Five SNPs were significantly associated with sCJD after correction for multiple testing. Subsequently these five SNPs were genotyped in 2264 controls. The pooled analysis, including 1543 sCJD cases and 4203 controls, yielded two genome wide significant results: rs6107516 (p-value=7.62x10(-9)) a variant tagging the prion protein gene (PRNP); and rs6951643 (p-value=1.66x10(-8)) tagging the Glutamate Receptor Metabotropic 8 gene (GRM8). Next we analysed the data stratifying by country of origin combining samples from the pooled analysis with genotypes from the 1000 Genomes Project and imputed genotypes from the Rotterdam Study (Total n=12967). The meta-analysis of the results showed that rs6107516 (p-value=3.00x10(-8)) and rs6951643 (p-value=3.91x10(-5)) remained as the two most significantly associated SNPs. Rs6951643 is located in an intronic region of GRM8, a gene that was additionally tagged by a cluster of 12 SNPs within our top 100 ranked results. GRM8 encodes for mGluR8, a protein which belongs to the metabotropic glutamate receptor family, recently shown to be involved in the transduction of cellular signals triggered by the prion protein. Pathway enrichment analyses performed with both Ingenuity Pathway Analysis and ALIGATOR postulates glutamate receptor signalling as one of the main pathways associated with sCJD. In summary, we have detected GRM8 as a novel, non-PRNP, genome-wide significant marker associated with heightened disease risk, providing additional evidence supporting a role of glutamate receptors in sCJD pathogenesis."],["dc.identifier.doi","10.1371/journal.pone.0123654"],["dc.identifier.isi","000353659400031"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/11822"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/37339"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Public Library Science"],["dc.relation.issn","1932-6203"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","A Genome Wide Association Study Links Glutamate Receptor Pathway to Sporadic Creutzfeldt-Jakob Disease Risk"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","e125"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Neurology"],["dc.bibliographiccitation.lastpage","e134"],["dc.bibliographiccitation.volume","93"],["dc.contributor.author","Minikel, Eric Vallabh"],["dc.contributor.author","Vallabh, Sonia M."],["dc.contributor.author","Orseth, Margaret C."],["dc.contributor.author","Brandel, Jean-Philippe"],["dc.contributor.author","Haïk, Stéphane"],["dc.contributor.author","Laplanche, Jean-Louis"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Parchi, Piero"],["dc.contributor.author","Capellari, Sabina"],["dc.contributor.author","Safar, Jiri"],["dc.contributor.author","Kenny, Janna"],["dc.contributor.author","Fong, Jamie C."],["dc.contributor.author","Takada, Leonel T."],["dc.contributor.author","Ponto, Claudia"],["dc.contributor.author","Hermann, Peter"],["dc.contributor.author","Knipper, Tobias"],["dc.contributor.author","Stehmann, Christiane"],["dc.contributor.author","Kitamoto, Tetsuyuki"],["dc.contributor.author","Ae, Ryusuke"],["dc.contributor.author","Hamaguchi, Tsuyoshi"],["dc.contributor.author","Sanjo, Nobuo"],["dc.contributor.author","Tsukamoto, Tadashi"],["dc.contributor.author","Mizusawa, Hidehiro"],["dc.contributor.author","Collins, Steven J."],["dc.contributor.author","Chiesa, Roberto"],["dc.contributor.author","Roiter, Ignazio"],["dc.contributor.author","de Pedro-Cuesta, Jesús"],["dc.contributor.author","Calero, Miguel"],["dc.contributor.author","Geschwind, Michael D."],["dc.contributor.author","Yamada, Masahito"],["dc.contributor.author","Nakamura, Yosikazu"],["dc.contributor.author","Mead, Simon"],["dc.date.accessioned","2020-12-10T18:41:46Z"],["dc.date.available","2020-12-10T18:41:46Z"],["dc.date.issued","2019"],["dc.identifier.doi","10.1212/WNL.0000000000007745"],["dc.identifier.eissn","1526-632X"],["dc.identifier.issn","0028-3878"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/77669"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Age at onset in genetic prion disease and the design of preventive clinical trials"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","371"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","The American Journal of Human Genetics"],["dc.bibliographiccitation.lastpage","382"],["dc.bibliographiccitation.volume","95"],["dc.contributor.author","Minikel, Eric Vallabh"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Collins, Steven J."],["dc.contributor.author","Ponto, Claudia"],["dc.contributor.author","Boyd, Alison"],["dc.contributor.author","Klug, Genevieve M. J. A."],["dc.contributor.author","Karch, Andre"],["dc.contributor.author","Kenny, Joanna"],["dc.contributor.author","Collinge, John"],["dc.contributor.author","Takada, Leonel T."],["dc.contributor.author","Forner, Sven"],["dc.contributor.author","Fong, Jamie C."],["dc.contributor.author","Mead, Simon"],["dc.contributor.author","Geschwind, Michael D."],["dc.date.accessioned","2018-11-07T09:33:47Z"],["dc.date.available","2018-11-07T09:33:47Z"],["dc.date.issued","2014"],["dc.description.abstract","Anticipation is the phenomenon whereby age of onset in genetic disease decreases in successive generations. Three independent reports have claimed anticipation in Creutzfeldt-Jakob disease (CJD) caused by the c.598G>A mutation in PRNP encoding a p.Glu200Lys (E200K) substitution in the prion protein. If confirmed, this finding would carry clear implications for genetic counseling. We analyzed pedigrees with this mutation from four prion centers worldwide (n = 217 individuals with the mutation) to analyze age of onset and death in affected and censored individuals. We show through simulation that selective ascertainment of individuals whose onset falls within the historical window since the mutation's 1989 discovery is sufficient to create robust false signals both of anticipation and of heritability of age of onset. In our data set, the number of years of anticipation observed depends upon how strictly the data are limited by the ascertainment window. Among individuals whose disease was directly observed at a study center, a 28-year difference between parent and child age of onset is observed (p = 0.002), but including individuals ascertained retrospectively through family history reduces this figure to 7 years (p = 0.005). Applying survival analysis to the most thoroughly ascertained subset of data eliminates the signal of anticipation. Moreover, even non-CJD deaths exhibit 16 years anticipation (p = 0.002), indicating that ascertainment bias can entirely explain observed anticipation. We suggest that reports of anticipation in genetic prion disease are driven entirely by ascertainment bias. Guidelines for future studies claiming statistical evidence for anticipation are suggested."],["dc.identifier.doi","10.1016/j.ajhg.2014.09.003"],["dc.identifier.isi","000342654300003"],["dc.identifier.pmid","25279981"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/32045"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Cell Press"],["dc.relation.issn","1537-6605"],["dc.relation.issn","0002-9297"],["dc.title","Ascertainment Bias Causes False Signal of Anticipation in Genetic Prion Disease"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]