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Progressive symmetrical erythrokeratoderma associated with biallelic PNPLA1 variants 进行性对称性红斑角皮病与双等位基因PNPLA1变异的关联 Jiang, Xingyuan; Echeandia-Francis, Caroline; Mani, Mitra, V; Hyden, Martin; Lange-Asschenfeldt, Bernhard; Hugel, Rainer; Hausser, Ingrid; Suessmuth, Kira; Oji, Vinzenz; Kopp, Julia; Liu, William; Fischer, Judith; Choate, Keith A. 分享 收藏
Endogenous acrolein accumulation in akr7a3 mutants causes microvascular dysfunction due to increased arachidonic acid metabolism Akr7a3突变体中内源性丙烯醛的积累导致微血管功能障碍，这是由于花生四烯酸代谢增加所致。 Zhang, Xin; Gschwind, Johannes; Erben, Vanessa; Bennewitz, Katrin; Li, Xiaogang; Sticht, Carsten; Poschet, Gernot; Hausser, Ingrid; Fleming, Thomas; Szendroedi, Julia; Nawroth, Peter Paul; Kroll, Jens 分享 收藏
Combined loss of glyoxalase 1 and aldehyde dehydrogenase 3a1 amplifies dicarbonyl stress, impairs proteasome activity resulting in hyperglycemia and activated retinal angiogenesis Li, Shu; Li, Hao; Bennewitz, Katrin; Poschet, Gernot; Buettner, Michael; Hausser, Ingrid; Szendroedi, Julia; Nawroth, Peter Paul; Kroll, Jens 分享 收藏
Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia Kopp, Johannes; Jahn, Denise; Vogt, Guido; Psoma, Anthi; Ratto, Edoardo; Morelle, Willy; Stelzer, Nina; Hausser, Ingrid; Hoffmann, Anne; de los Santos, Miguel Rodriguez; Koch, Leonard A.; Fischer-Zirnsak, Bjoern; Thiel, Christian; Palm, Wilhelm; Meierhofer, David; van den Bogaart, Geert; Foulquier, Francois; Meinhardt, Andreas; Kornak, Uwe 分享 收藏
Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1 由于基因NKPD1的错义变异而导致的常染色体显性层状鱼鳞病 Komlosi, Katalin; Glocker, Cristina; Hsu-Rehder, Hao-Hsiang; Alter, Svenja; Kopp, Julia; Hotz, Alrun; Zimmer, Andreas David; Hausser, Ingrid; Sandhoff, Roger; Oji, Vinzenz; Fischer, Judith 分享 收藏
Exploring Structural and Molecular Features of Sciatic Nerve Lesions in Diabetic Neuropathy: Unveiling Pathogenic Pathways and Targets Schwarz, Daniel; Le Marois, Maxime; Sturm, Volker; Peters, Andreas S.; Longuespee, Remi; Helm, Dominic; Schneider, Martin; Eichmueller, Bastian; Hidmark, Asa S.; Fischer, Manuel; Kender, Zoltan; Schwab, Constantin; Hausser, Ingrid; Weis, Joachim; Dihlmann, Susanne; Boeckler, Dittmar; Bendszus, Martin; Heiland, Sabine; Herzig, Stephan; Nawroth, Peter P.; Szendroedi, Julia; Fleming, Thomas 分享 收藏
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Skin fragility and wound management in Ehlers-Danlos syndromes: a report by the International Consortium on Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders Skin Working Group Angwin, Chloe; Doolan, Brent J.; Hausser, Ingrid; Labine, Barry; Lavallee, Mark; Mackay, Donald; Pope, F. Michael; Seneviratne, Suranjith L.; Winship, Ingrid; Burrows, Nigel P. 分享 收藏
Impaired Detoxification of Trans, Trans-2,4-Decadienal, an Oxidation Product from Omega-6 Fatty Acids, Alters Insulin Signaling, Gluconeogenesis and Promotes Microvascular Disease 反式，Trans-2，4-癸二烯醛 (一种来自Omega-6脂肪酸的氧化产物) 的解毒受损，改变胰岛素信号传导，糖异生并促进微血管疾病 Qian, Xin; Klatt, Stephan; Bennewitz, Katrin; Wohlfart, David Philipp; Lou, Bowen; Meng, Ye; Buettner, Michael; Poschet, Gernot; Morgenstern, Jakob; Fleming, Thomas; Sticht, Carsten; Hausser, Ingrid; Fleming, Ingrid; Szendroedi, Julia; Nawroth, Peter Paul; Kroll, Jens 分享 收藏
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Multiple Arterial Dissections and Connective Tissue Abnormalities Erhart, Philipp; Koerfer, Daniel; Dihlmann, Susanne; Qiao, Jia-Lu; Hausser, Ingrid; Ringleb, Peter; Maenner, Joerg; Dikow, Nicola; Schaaf, Christian P.; Grond-Ginsbach, Caspar; Boeckler, Dittmar 分享 收藏
pdx1 Knockout Leads to a Diabetic Nephropathy- Like Phenotype in Zebrafish and Identifies Phosphatidylethanolamine as Metabolite Promoting Early Diabetic Kidney Damage Wiggenhauser, Lucas M.; Metzger, Lena; Bennewitz, Katrin; Soleymani, Silas; Boger, Mike; Tabler, Christoph T.; Hausser, Ingrid; Sticht, Carsten; Wohlfart, Paulus; Volk, Nadine; Heidenreich, Elena; Buettner, Michael; Hammes, Hans-Peter; Kroll, Jens 分享 收藏
Mutations in PYCR1 cause cutis laxa with progeroid features (vol 41, pg 1016, 2009) Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Bjorn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hulya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Kegler, Mareen Schmidt-von; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Hausser, Ingrid; Budde, Birgit; Nurnberg, Gudrun; Nurnberg, Peter; Seemann, Petra; Kunkel, Desiree; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe 分享 收藏
Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis Hake, L.; Suessmuth, K.; Komlosi, K.; Kopp, J.; Drerup, C.; Metze, D.; Traupe, H.; Hausser, I; Eckl, K. M.; Hennies, H. C.; Fischer, J.; Oji, V 分享 收藏
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Reduced Acrolein Detoxification in akr1a1a Zebrafish Mutants Causes Impaired Insulin Receptor Signaling and Microvascular Alterations Qi, Haozhe; Schmoehl, Felix; Li, Xiaogang; Qian, Xin; Tabler, Christoph T.; Bennewitz, Katrin; Sticht, Carsten; Morgenstern, Jakob; Fleming, Thomas; Volk, Nadine; Hausser, Ingrid; Heidenreich, Elena; Hell, Ruediger; Nawroth, Peter Paul; Kroll, Jens 分享 收藏
Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease 携带人类常见点突变的显性营养不良性大疱性表皮松解症的小鼠模型概括了人类疾病 Smith, Blake R. C.; Nystroem, Alexander; Nowell, Cameron J.; Hausser, Ingrid; Gretzmeier, Christine; Robertson, Susan J.; Varigos, George A.; Has, Cristina; Kern, Johannes S.; Pang, Ken C. 分享 收藏
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