Title : C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation - Lausberg_2021_J.Clin.Invest_131_e143078 |
Author(s) : Lausberg E , Giesselmann S , Dewulf JP , Wiame E , Holz A , Salvarinova R , van Karnebeek CD , Klemm P , Ohl K , Mull M , Braunschweig T , Weis J , Sommer CJ , Demuth S , Haase C , Stollbrink-Peschgens C , Debray FG , Libioulle C , Choukair D , Oommen PT , Borkhardt A , Surowy H , Wieczorek D , Wagner N , Meyer R , Eggermann T , Begemann M , van Schaftingen E , Hausler M , Tenbrock K , van den Heuvel L , Elbracht M , Kurth I , Kraft F |
Ref : J Clinical Investigation , 131 : , 2021 |
Abstract : |
PubMedSearch : Lausberg_2021_J.Clin.Invest_131_e143078 |
PubMedID: 33945503 |
Gene_locus related to this paper: human-cb069 |
Title : 2p21 Deletions in hypotonia-cystinuria syndrome - Eggermann_2012_Eur.J.Med.Genet_55_561 |
Author(s) : Eggermann T , Spengler S , Venghaus A , Denecke B , Zerres K , Baudis M , Ensenauer R |
Ref : Eur Journal of Medical Genetics , 55 :561 , 2012 |
Abstract : |
PubMedSearch : Eggermann_2012_Eur.J.Med.Genet_55_561 |
PubMedID: 22766003 |
Title : Cystinuria: an inborn cause of urolithiasis - Eggermann_2012_Orphanet.J.Rare.Dis_7_19 |
Author(s) : Eggermann T , Venghaus A , Zerres K |
Ref : Orphanet J Rare Dis , 7 :19 , 2012 |
Abstract : |
PubMedSearch : Eggermann_2012_Orphanet.J.Rare.Dis_7_19 |
PubMedID: 22480232 |
Title : No evidence for isolated imprinting mutations in the PEG1\/MEST locus in Silver-Russell patients - Schoherr_2008_Eur.J.Med.Genet_51_322 |
Author(s) : Schoherr N , Jager S , Ranke MB , Wollmann HA , Binder G , Eggermann T |
Ref : Eur Journal of Medical Genetics , 51 :322 , 2008 |
Abstract : |
PubMedSearch : Schoherr_2008_Eur.J.Med.Genet_51_322 |
PubMedID: 18585117 |