2018
GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome
Hermle T, Schneider R, Schapiro D, Braun DA, van der Ven AT, Warejko JK, Daga A, Widmeier E, Nakayama M, Jobst-Schwan T, Majmundar AJ, Ashraf S, Rao J, Finn LS, Tasic V, Hernandez JD, Bagga A, Jalalah SM, El Desoky S, Kari JA, Laricchia KM, Lek M, Rehm HL, MacArthur DG, Mane S, Lifton RP, Shril S, Hildebrandt F. GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. Journal Of The American Society Of Nephrology 2018, 29: 2123-2138. PMID: 29959197, PMCID: PMC6065084, DOI: 10.1681/asn.2017121312.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell MovementCells, CulturedCohort StudiesDisease ProgressionDrosophila melanogasterExome SequencingFemaleGene Expression RegulationGenetic Predisposition to DiseaseHumansMaleMass ScreeningMembrane ProteinsMutation, MissenseNephrotic SyndromePedigreePhosphate-Binding ProteinsPodocytesRab5 GTP-Binding ProteinsReal-Time Polymerase Chain ReactionRenal Insufficiency, ChronicRNA, Small InterferingConceptsSteroid-resistant nephrotic syndromeNovel monogenic causesCoimmunoprecipitation assaysHomozygous missense mutationPatient-derived mutationsMissense mutationsMonogenic causesHEK293T cellsActive Rab5GAPVD1Nephrotic syndromePodocyte migration rateEctopic expressionCases of SRNSPartial colocalizationSpecific pathogenetic pathwaysWhole-exome sequencingEarly-onset NSHuman NFunctional significancePodocyte migrationProteinMutationsPhysical interactionRab5
2015
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways
O'Dushlaine C, Rossin L, Lee P, Duncan L, Parikshak N, Newhouse S, Ripke S, Neale B, Purcell S, Posthuma D, Nurnberger J, Lee S, Faraone S, Perlis R, Mowry B, Thapar A, Goddard M, Witte J, Absher D, Agartz I, Akil H, Amin F, Andreassen O, Anjorin A, Anney R, Anttila V, Arking D, Asherson P, Azevedo M, Backlund L, Badner J, Bailey A, Banaschewski T, Barchas J, Barnes M, Barrett T, Bass N, Battaglia A, Bauer M, Bayés M, Bellivier F, Bergen S, Berrettini W, Betancur C, Bettecken T, Biederman J, Binder E, Black D, Blackwood D, Bloss C, Boehnke M, Boomsma D, Breuer R, Bruggeman R, Cormican P, Buccola N, Buitelaar J, Bunney W, Buxbaum J, Byerley W, Byrne E, Caesar S, Cahn W, Cantor R, Casas M, Chakravarti A, Chambert K, Choudhury K, Cichon S, Mattheisen M, Cloninger C, Collier D, Cook E, Coon H, Cormand B, Corvin A, Coryell W, Craig D, Craig I, Crosbie J, Cuccaro M, Curtis D, Czamara D, Datta S, Dawson G, Day R, De Geus E, Degenhardt F, Djurovic S, Donohoe G, Doyle A, Duan J, Dudbridge F, Duketis E, Ebstein R, Edenberg H, Elia J, Ennis S, Etain B, Fanous A, Farmer A, Ferrier I, Flickinger M, Fombonne E, Foroud T, Frank J, Franke B, Fraser C, Freedman R, Freimer N, Freitag C, Friedl M, Frisén L, Gallagher L, Gejman P, Georgieva L, Gershon E, Giegling I, Gill M, Gordon S, Gordon-Smith K, Green E, Greenwood T, Grice D, Gross M, Grozeva D, Guan W, Gurling H, De Haan L, Haines J, Hakonarson H, Hallmayer J, Hamilton S, Hamshere M, Hansen T, Hartmann A, Hautzinger M, Heath A, Henders A, Herms S, Hickie I, Hipolito M, Hoefels S, Holsboer F, Hoogendijk W, Hottenga J, Hultman C, Hus V, Ingason A, Ising M, Jamain S, Jones E, Jones I, Jones L, Tzeng J, Kähler A, Kahn R, Kandaswamy R, Keller M, Kennedy J, Kenny E, Kent L, Kim Y, Kirov G, Klauck S, Klei L, Knowles J, Kohli M, Koller D, Konte B, Korszun A, Krabbendam L, Krasucki R, Kuntsi J, Kwan P, Landén M, Längström N, Lathrop M, Lawrence J, Lawson W, Leboyer M, Ledbetter D, Lencz T, Lesch K, Levinson D, Lewis C, Li J, Lichtenstein P, Lieberman J, Lin D, Linszen D, Liu C, Lohoff F, Loo S, Lord C, Lowe J, Lucae S, MacIntyre D, Madden P, Maestrini E, Magnusson P, Mahon P, Maier W, Malhotra A, Mane S, Martin C, Martin N, Matthews K, Mattingsdal M, McCarroll S, McGhee K, McGough J, McGrath P, McGuffin P, McInnis M, McIntosh A, McKinney R, McLean A, McMahon F, McMahon W, McQuillin A, Medeiros H, Medland S, Meier S, Melle I, Meng F, Meyer J, Middeldorp C, Middleton L, Milanova V, Miranda A, Monaco A, Montgomery G, Moran J, Moreno-De-Luca D, Morken G, Morris D, Morrow E, Moskvina V, Muglia P, Mühleisen T, Muir W, Müller-Myhsok B, Murtha M, Myers R, Myin-Germeys I, Neale M, Nelson S, Nievergelt C, Nikolov I, Nimgaonkar V, Nolen W, Nöthen M, Nwulia E, Nyholt D, Oades R, Olincy A, Oliveira G, Olsen L, Ophoff R, Osby U, Owen M, Palotie A, Parr J, Paterson A, Pato C, Pato M, Penninx B, Pergadia M, Pericak-Vance M, Pickard B, Pimm J, Piven J, Potash J, Poustka F, Propping P, Puri V, Quested D, Quinn E, Ramos-Quiroga J, Rasmussen H, Raychaudhuri S, Rehnström K, Reif A, Ribasés M, Rice J, Rietschel M, Roeder K, Roeyers H, Rothenberger A, Rouleau G, Ruderfer D, Rujescu D, Sanders A, Sanders S, Santangelo S, Sergeant J, Schachar R, Schalling M, Schatzberg A, Scheftner W, Schellenberg G, Scherer S, Schork N, Schulze T, Schumacher J, Schwarz M, Scolnick E, Scott L, Shi J, Shilling P, Shyn S, Silverman J, Slager S, Smalley S, Smit J, Smith E, Sonuga-Barke E, St. Clair D, State M, Steffens M, Steinhausen H, Strauss J, Strohmaier J, Stroup T, Sutcliffe J, Szatmari P, Szelinger S, Thirumalai S, Thompson R, Todorov A, Tozzi F, Treutlein J, Uhr M, van den Oord E, Van Grootheest G, Van Os J, Vicente A, Vieland V, Vincent J, Visscher P, Walsh C, Wassink T, Watson S, Weissman M, Werge T, Wienker T, Wijsman E, Willemsen G, Williams N, Willsey A, Witt S, Xu W, Young A, Yu T, Zammit S, Zandi P, Zhang P, Zitman F, Zöllner S, Devlin B, Kelsoe J, Sklar P, Daly M, O'Donovan M, Craddock N, Kendler K, Weiss L, Wray N, Zhao Z, Geschwind D, Sullivan P, Smoller J, Holmans P, Breen G. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways. Nature Neuroscience 2015, 18: 199-209. PMID: 25599223, PMCID: PMC4378867, DOI: 10.1038/nn.3922.Peer-Reviewed Original ResearchMeSH KeywordsBrainDatabases, GeneticGenetic Predisposition to DiseaseGenome-Wide Association StudyHistonesHumansMental DisordersSignal Transduction
2013
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
Lee S, Ripke S, Neale B, Faraone S, Purcell S, Perlis R, Mowry B, Thapar A, Goddard M, Witte J, Absher D, Agartz I, Akil H, Amin F, Andreassen O, Anjorin A, Anney R, Anttila V, Arking D, Asherson P, Azevedo M, Backlund L, Badner J, Bailey A, Banaschewski T, Barchas J, Barnes M, Barrett T, Bass N, Battaglia A, Bauer M, Bayés M, Bellivier F, Bergen S, Berrettini W, Betancur C, Bettecken T, Biederman J, Binder E, Black D, Blackwood D, Bloss C, Boehnke M, Boomsma D, Breen G, Breuer R, Bruggeman R, Cormican P, Buccola N, Buitelaar J, Bunney W, Buxbaum J, Byerley W, Byrne E, Caesar S, Cahn W, Cantor R, Casas M, Chakravarti A, Chambert K, Choudhury K, Cichon S, Cloninger C, Collier D, Cook E, Coon H, Cormand B, Corvin A, Coryell W, Craig D, Craig I, Crosbie J, Cuccaro M, Curtis D, Czamara D, Datta S, Dawson G, Day R, De Geus E, Degenhardt F, Djurovic S, Donohoe G, Doyle A, Duan J, Dudbridge F, Duketis E, Ebstein R, Edenberg H, Elia J, Ennis S, Etain B, Fanous A, Farmer A, Ferrier I, Flickinger M, Fombonne E, Foroud T, Frank J, Franke B, Fraser C, Freedman R, Freimer N, Freitag C, Friedl M, Frisén L, Gallagher L, Gejman P, Georgieva L, Gershon E, Geschwind D, Giegling I, Gill M, Gordon S, Gordon-Smith K, Green E, Greenwood T, Grice D, Gross M, Grozeva D, Guan W, Gurling H, De Haan L, Haines J, Hakonarson H, Hallmayer J, Hamilton S, Hamshere M, Hansen T, Hartmann A, Hautzinger M, Heath A, Henders A, Herms S, Hickie I, Hipolito M, Hoefels S, Holmans P, Holsboer F, Hoogendijk W, Hottenga J, Hultman C, Hus V, Ingason A, Ising M, Jamain S, Jones E, Jones I, Jones L, Tzeng J, Kähler A, Kahn R, Kandaswamy R, Keller M, Kennedy J, Kenny E, Kent L, Kim Y, Kirov G, Klauck S, Klei L, Knowles J, Kohli M, Koller D, Konte B, Korszun A, Krabbendam L, Krasucki R, Kuntsi J, Kwan P, Landén M, Långström N, Lathrop M, Lawrence J, Lawson W, Leboyer M, Ledbetter D, Lee P, Lencz T, Lesch K, Levinson D, Lewis C, Li J, Lichtenstein P, Lieberman J, Lin D, Linszen D, Liu C, Lohoff F, Loo S, Lord C, Lowe J, Lucae S, MacIntyre D, Madden P, Maestrini E, Magnusson P, Mahon P, Maier W, Malhotra A, Mane S, Martin C, Martin N, Mattheisen M, Matthews K, Mattingsdal M, McCarroll S, McGhee K, McGough J, McGrath P, McGuffin P, McInnis M, McIntosh A, McKinney R, McLean A, McMahon F, McMahon W, McQuillin A, Medeiros H, Medland S, Meier S, Melle I, Meng F, Meyer J, Middeldorp C, Middleton L, Milanova V, Miranda A, Monaco A, Montgomery G, Moran J, Moreno-De-Luca D, Morken G, Morris D, Morrow E, Moskvina V, Muglia P, Mühleisen T, Muir W, Müller-Myhsok B, Murtha M, Myers R, Myin-Germeys I, Neale M, Nelson S, Nievergelt C, Nikolov I, Nimgaonkar V, Nolen W, Nöthen M, Nurnberger J, Nwulia E, Nyholt D, O'Dushlaine C, Oades R, Olincy A, Oliveira G, Olsen L, Ophoff R, Osby U, Owen M, Palotie A, Parr J, Paterson A, Pato C, Pato M, Penninx B, Pergadia M, Pericak-Vance M, Pickard B, Pimm J, Piven J, Posthuma D, Potash J, Poustka F, Propping P, Puri V, Quested D, Quinn E, Ramos-Quiroga J, Rasmussen H, Raychaudhuri S, Rehnström K, Reif A, Ribasés M, Rice J, Rietschel M, Roeder K, Roeyers H, Rossin L, Rothenberger A, Rouleau G, Ruderfer D, Rujescu D, Sanders A, Sanders S, Santangelo S, Sergeant J, Schachar R, Schalling M, Schatzberg A, Scheftner W, Schellenberg G, Scherer S, Schork N, Schulze T, Schumacher J, Schwarz M, Scolnick E, Scott L, Shi J, Shilling P, Shyn S, Silverman J, Slager S, Smalley S, Smit J, Smith E, Sonuga-Barke E, St. Clair D, State M, Steffens M, Steinhausen H, Strauss J, Strohmaier J, Stroup T, Sutcliffe J, Szatmari P, Szelinger S, Thirumalai S, Thompson R, Todorov A, Tozzi F, Treutlein J, Uhr M, van den Oord E, Van Grootheest G, Van Os J, Vicente A, Vieland V, Vincent J, Visscher P, Walsh C, Wassink T, Watson S, Weissman M, Werge T, Wienker T, Wijsman E, Willemsen G, Williams N, Willsey A, Witt S, Xu W, Young A, Yu T, Zammit S, Zandi P, Zhang P, Zitman F, Zöllner S, Devlin B, Kelsoe J, Sklar P, Daly M, O'Donovan M, Craddock N, Sullivan P, Smoller J, Kendler K, Wray N. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics 2013, 45: 984-994. PMID: 23933821, PMCID: PMC3800159, DOI: 10.1038/ng.2711.Peer-Reviewed Original ResearchMeSH KeywordsAdultAttention Deficit Disorder with HyperactivityBipolar DisorderChildChild Development Disorders, PervasiveCrohn DiseaseDepressive Disorder, MajorGenetic HeterogeneityGenetic Predisposition to DiseaseGenome-Wide Association StudyGenome, HumanHumansInheritance PatternsMental DisordersPolymorphism, Single NucleotideSchizophrenia