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P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO) Charras, Amandine; Hofmann, Sigrun R.; Cox, Allison; Schulze, Felix; Russ, Susanne; Northey, Sarah; Liu, Xuan; Fang, Yongxiang; Haldenby, Sam; Hartmann, Hella; Bassuk, Alexander G.; Carvalho, Ana; Sposito, Francesca; Grinstein, Lev; Roesen-wolff, Angela; Meyer-Bahlburg, Almut; Beresford, Michael W.; Lainka, Elke; Foell, Dirk; Wittkowski, Helmut; Girschick, Hermann J.; Morbach, Henner; Uebe, Steffen; Hueffmeier, Ulrike; Ferguson, Polly J.; Hedrich, Christian M. 分享 收藏
Vascular-derived signature imprinted by tumor microenvironment-dependent transcriptional memory predicts colon cancer prognosis Naschberger, Elisabeth; Fuchs, Maximilian; Dickel, Nicholas; Kunz, Meik; Anchang, Charles G.; Demmler, Richard; Popp, Bernt; Ekici, Arif B.; Uebe, Steffen; Geppert, Carol I.; Gunther, Claudia; Merkel, Susanne; Schellerer, Vera S.; Sturzl, Michael 分享 收藏
Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study Popp, Bernt; Ekici, Arif B.; Knaup, Karl X.; Schneider, Karen; Uebe, Steffen; Park, Jonghun; Bafna, Vineet; Meiselbach, Heike; Eckardt, Kai-Uwe; Schiffer, Mario; Reis, Andre; Kraus, Cornelia; Wiesener, Michael 分享 收藏
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases Wopperer, Florian J.; Knaup, Karl X.; Stanzick, Kira J.; Schneider, Karen; Jobst-Schwan, Tilman; Ekici, Arif B.; Uebe, Steffen; Wenzel, Andrea; Schliep, Stefan; Schuerfeld, Carsten; Seitz, Randolf; Bernhardt, Wanja; Goedel, Markus; Wiesener, Antje; Popp, Bernt; Stark, Klaus J.; Groene, Hermann-Josef; Friedrich, Bjoern; Weiss, Martin; Basic-Jukic, Nikolina; Schiffer, Mario; Schroeppel, Bernd; Huettel, Bruno; Beck, Bodo B.; Sayer, John A.; Ziegler, Christine; Buettner-Herold, Maike; Amann, Kerstin; Heid, Iris M.; Reis, Andre; Pasutto, Francesca; Wiesener, Michael S. 分享 收藏
Transcriptomes of MPO-Deficient Patients with Generalized Pustular Psoriasis Reveals Expansion of CD4D Cytotoxic T Cells and an Involvement of the Haskamp, Stefan; Frey, Benjamin; Becker, Ina; Schulz-Kuhnt, Anja; Atreya, Imke; Berking, Carola; Pauli, David; Ekici, Arif B.; Berges, Johannes; Moessner, Rotraut; Wilsmann-Theis, Dagmar; Sticherling, Michael; Uebe, Steffen; Kirchner, Philipp; Hueffmeier, Ulrike 分享 收藏
Interspecies Single-Cell RNA-Seq Analysis Reveals the Novel Trajectory of Osteoclast Differentiation and Therapeutic Targets Omata, Yasunori; Okada, Hiroyuki; Uebe, Steffen; Izawa, Naohiro; Ekici, Arif B.; Sarter, Kerstin; Saito, Taku; Schett, Georg; Tanaka, Sakae; Zaiss, Mario M. 分享 收藏
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BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome Bosch, Elisabeth; Hebebrand, Moritz; Popp, Bernt; Penger, Theresa; Behring, Bettina; Cox, Helen; Towner, Shelley; Kraus, Cornelia; Wilson, William G.; Khan, Shagufta; Krumbiegel, Mandy; Ekici, Arif B.; Uebe, Steffen; Trollmann, Regina; Woelfle, Joachim; Reis, Andre; Vasileiou, Georgia 分享 收藏
Genetic Analysis of MPO Variants in Four Psoriasis in Patients from Haskamp, Stefan; Horowitz, Joseph Simon; Oji, Vinzenz; Philipp, Sandra; Sticherling, Michael; Schaekel, Knut; Schuhmann, Sarah; Prinz, Jorg C.; Burkhardt, Harald; Behrens, Frank; Boehm, Beate; Koehm, Michaela; Rech, Jurgen; Simon, David; Schett, Georg; Morrison, Kirsten; Gerdes, Sascha; Assmann, Gunter; Nimeh, Ali; Schuster, Volker; Jacobi, Arnd; Weyergraf, Ansgar; Reis, Andre; Uebe, Steffen; Wilsmann-Theis, Dagmar; Moessner, Rotraut; Hueffmeier, Ulrike 分享 收藏
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum Hueffmeier, Ulrike; Kraus, Cornelia; Reuter, Miriam S.; Uebe, Steffen; Abbott, Mary-Alice; Ahmed, Syed A.; Rawson, Kristyn L.; Barr, Eileen; Li, Hong; Bruel, Ange-Line; Faivre, Laurence; Mau-Them, Frederic Tran; Botti, Christina; Brooks, Susan; Burns, Kaitlyn; Ward, D. Isum; Dutra-Clarke, Marina; Martinez-Agosto, Julian A.; Lee, Hane; Nelson, Stanley F.; Zacher, Pia; Abou Jamra, Rami; Kloeckner, Chiara; McGaughran, Julie; Kohlhase, Juergen; Schuhmann, Sarah; Moran, Ellen; Pappas, John; Raas-Rothschild, Annick; Sacoto, Maria J. Guillen; Henderson, Lindsay B.; Palculict, Timothy Blake; Mullegama, Sureni, V; Elloumi, Houda Zghal; Reich, Adi; Vergano, Samantha A. Schrier; Wahl, Erica; Reis, Andre; Zweier, Christiane 分享 收藏
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries 全基因组荟萃分析确定了127个开角型青光眼位点，在祖先中具有一致的影响 Gharahkhani, Puya; Jorgenson, Eric; Hysi, Pirro; Khawaja, Anthony P.; Pendergrass, Sarah; Han, Xikun; Ong, Jue Sheng; Hewitt, Alex W.; Segre, Ayellet, V; Rouhana, John M.; Hamel, Andrew R.; Igo, Robert P., Jr.; Choquet, Helene; Qassim, Ayub; Josyula, Navya S.; Bailey, Jessica N. Cooke; Bonnemaijer, Pieter W. M.; Iglesias, Adriana; Siggs, Owen M.; Young, Terri L.; Vitart, Veronique; Thiadens, Alberta A. H. J.; Karjalainen, Juha; Uebe, Steffen; Melles, Ronald B.; Nair, K. Saidas; Luben, Robert; Simcoe, Mark; Amersinghe, Nishani; Cree, Angela J.; Hohn, Rene; Poplawski, Alicia; Chen, Li Jia; Rong, Shi-Song; Aung, Tin; Vithana, Eranga Nishanthie; Tamiya, Gen; Shiga, Yukihiro; Yamamoto, Masayuki; Nakazawa, Toru; Currant, Hannah; Birney, Ewan; Wang, Xin; Auton, Adam; Lupton, Michelle K.; Martin, Nicholas G.; Ashaye, Adeyinka; Olawoye, Olusola; Williams, Susan E.; Akafo, Stephen; Ramsay, Michele; Hashimoto, Kazuki; Kamatani, Yoichiro; Akiyama, Masato; Momozawa, Yukihide; Foster, Paul J.; Khaw, Peng T.; Morgan, James E.; Strouthidis, Nicholas G.; Kraft, Peter; Kang, Jae H.; Pang, Chi Pui; Pasutto, Francesca; Mitchell, Paul; Lotery, Andrew J.; Palotie, Aarno; van Duijn, Cornelia; Haines, Jonathan L.; Hammond, Chris; Pasquale, Louis R.; Klaver, Caroline C. W.; Hauser, Michael; Khor, Chiea Chuen; Mackey, David A.; Kubo, Michiaki; Cheng, Ching-Yu; Craig, Jamie E.; MacGregor, Stuart; Wiggs, Janey L. 分享 收藏
Network- and systems-based re-engineering of dendritic cells with non-coding RNAs for cancer immunotherapy 基于网络和系统的树突状细胞与非编码rna的重新设计，用于癌症免疫治疗 Lai, Xin; Dreyer, Florian S.; Cantone, Martina; Eberhardt, Martin; Gerer, Kerstin F.; Jaitly, Tanushree; Uebe, Steffen; Lischer, Christopher; Ekici, Arif; Wittmann, Juergen; Jaeck, Hans-Martin; Schaft, Niels; Doerrie, Jan; Vera, Julio 分享 收藏
Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases Haskamp, Stefan; Bruns, Heiko; Hahn, Madelaine; Hoffmann, Markus; Gregor, Anne; Loehr, Sabine; Hahn, Jonas; Schauer, Christine; Ringer, Mark; Flamann, Cindy; Frey, Benjamin; Lesner, Adam; Thiel, Christian T.; Ekici, Arif B.; von Hoersten, Stephan; Assmann, Gunter; Riepe, Claudia; Euler, Maximilien; Schaekel, Knut; Philipp, Sandra; Prinz, Joerg C.; Moessner, Rotraut; Kersting, Florina; Sticherling, Michael; Sefiani, Abdelaziz; Lyahyai, Jaber; Sondermann, Wiebke; Oji, Vinzenz; Schulz, Peter; Wilsmann-Theis, Dagmar; Sticht, Heinrich; Schett, Georg; Reis, Andre; Uebe, Steffen; Frey, Silke; Hueffmeier, Ulrike 分享 收藏
Rare Loss -of -Function Mutation in SERPINA3 in Generalized Pustular Psoriasis Frey, Silke; Sticht, Heinrich; Wilsmann-Theis, Dagmar; Gerschuetz, Anne; Wolf, Katharina; Loehr, Sabine; Haskamp, Stefan; Frey, Benjamin; Hahn, Madelaine; Ekici, Arif B.; Uebe, Steffen; Thiel, Christian; Reis, Andre; Burkhardt, Harald; Behrens, Frank; Koehm, Michaela; Rech, Juergen; Schett, Georg; Assmann, Gunter; Kingo, Kulli; Koks, Sulev; Moessner, Rotraut; Prinz, Joerg C.; Oji, Vinzenz; Schulz, Peter; Munoz, Luis E.; Kremer, Andreas E.; Wenzel, Joerg; Hueffmeier, Ulrike 分享 收藏
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia SVBP功能丧失导致常染色体隐性智力残疾、小头畸形、共济失调和肌张力低下 Iqbal, Zafar; Tawamie, Hasan; Ba, Wei; Reis, Andre; Al Halak, Bassam; Sticht, Heinrich; Uebe, Steffen; Kasri, Nael Nadif; Riazuddin, Sheikh; van Bokhoven, Hans; Abou Jamra, Rami 分享 收藏
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