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Kayserili H

References (3)

Title : DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1\/IL-1 signaling - Harapas_2022_Sci.Immunol_7_eabi4611
Author(s) : Harapas CR , Robinson KS , Lay K , Wong J , Moreno Traspas R , Nabavizadeh N , Rass-Rothschild A , Boisson B , Drutman SB , Laohamonthonkul P , Bonner D , Xiong JR , Gorrell MD , Davidson S , Yu CH , Fleming MD , Gudera J , Stein J , Ben-Harosh M , Groopman E , Shimamura A , Tamary H , Kayserili H , Hatipoglu N , Casanova JL , Bernstein JA , Zhong FL , Masters SL , Reversade B
Ref : Sci Immunol , 7 :eabi4611 , 2022
Abstract :
PubMedSearch : Harapas_2022_Sci.Immunol_7_eabi4611
PubMedID: 36112693
Gene_locus related to this paper: human-DPP9

Title : Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy - Wong_2021_Am.J.Hum.Genet_108_1301
Author(s) : Wong HH , Seet SH , Maier M , Gurel A , Traspas RM , Lee C , Zhang S , Talim B , Loh AYT , Chia CY , Teoh TS , Sng D , Rensvold J , Unal S , Shishkova E , Cepni E , Nathan FM , Sirota FL , Liang C , Yarali N , Simsek-Kiper PO , Mitani T , Ceylaner S , Arman-Bilir O , Mbarek H , Gumruk F , Efthymiou S , Ugurlu Ci Men D , Georgiadou D , Sotiropoulou K , Houlden H , Paul F , Pehlivan D , Laine C , Chai G , Ali NA , Choo SC , Keng SS , Boisson B , Yilmaz E , Xue S , Coon JJ , Ly TTN , Gilani N , Hasbini D , Kayserili H , Zaki MS , Isfort RJ , Ordonez N , Tripolszki K , Bauer P , Rezaei N , Seyedpour S , Khotaei GT , Bascom CC , Maroofian R , Chaabouni M , Alsubhi A , Eyaid W , Isikay S , Gleeson JG , Lupski JR , Casanova JL , Pagliarini DJ , Akarsu NA , Maurer-Stroh S , Cetinkaya A , Bertoli-Avella A , Mathuru AS , Ho L , Bard FA , Reversade B
Ref : American Journal of Human Genetics , 108 :1301 , 2021
Abstract :
PubMedSearch : Wong_2021_Am.J.Hum.Genet_108_1301
PubMedID: 34038740
Gene_locus related to this paper: human-cb069

Title : Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders - Novarino_2014_Science_343_506
Author(s) : Novarino G , Fenstermaker AG , Zaki MS , Hofree M , Silhavy JL , Heiberg AD , Abdellateef M , Rosti B , Scott E , Mansour L , Masri A , Kayserili H , Al-Aama JY , Abdel-Salam GMH , Karminejad A , Kara M , Kara B , Bozorgmehri B , Ben-Omran T , Mojahedi F , El Din Mahmoud IG , Bouslam N , Bouhouche A , Benomar A , Hanein S , Raymond L , Forlani S , Mascaro M , Selim L , Shehata N , Al-Allawi N , Bindu PS , Azam M , Gunel M , Caglayan A , Bilguvar K , Tolun A , Issa MY , Schroth J , Spencer EG , Rosti RO , Akizu N , Vaux KK , Johansen A , Koh AA , Megahed H , Durr A , Brice A , Stevanin G , Gabriel SB , Ideker T , Gleeson JG
Ref : Science , 343 :506 , 2014
Abstract :
PubMedSearch : Novarino_2014_Science_343_506
PubMedID: 24482476