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Entries: 1-10  
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NOA1 is an essential GTPase required for mitochondrial protein synthesis
Authors: Kolanczyk, Mateusz; Pech, Markus; Zemojte, Tomasz; Yamamoto, Hiroshi; Mikula, Ivan; Calvaruso, Maria-Antonietta; van den Brand, Mariel; Richter, Ricarda; Fischer, Bjoern; Ritz, Anita; Kossler, Nadine; Thurisch, Boris; Spoerle, Ralf; Smeitink, Jan; Kornak, Uwe; Chan, Danny; Vingron, Martin; Martasek, Pavel; Lightowlers, Robert N.; Nijtmans, Leo; Schuelke, Markus; Nierhaus, Knud H.; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2011-01-01
Title of Journal: Molecular Biology of the Cell
Volume: 22
Issue / Number: 1
Start Page: 1
End Page: 11
Document Type: Article
ID: 538382.0
 
Full text / Content available
MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking.
Authors: Albrecht, Beate; de Brouwer, Arjan P.; Lefeber, Dirk J.; Cremer, Kirsten; Hausser, Ingrid; Rossen, Nick; Wortmann, Saskia B.; Wevers, Ron A.; Kornak, Uwe; Morava, Eva
Date of Publication (YYYY-MM-DD): 2010-10-15
Title of Journal: American Journal of Medical Genetics. Part A.
Volume: 152A
Issue / Number: 11
Start Page: 2916
End Page: 2918
Document Type: Article
ID: 536210.0
 
Full text / Content available
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa
Authors: Guillard, Mailys; Dimopoulou, Aikaterini; Fischer, Björn; Morava, Eva; Lefeber, Dirk J.; Kornak, Uwe; Wevers, Ron A.
Date of Publication (YYYY-MM-DD): 2009-09
Title of Journal: Biochimica et Biophysica Acta - Molecular Basis of Disease
Volume: 1792
Start Page: 903
End Page: 914
Document Type: Article
ID: 447308.0
Mutations in PYCR1 cause cutis laxa with progeroid features
Authors: Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Björn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hülya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Schmidt-von Kegler, Mareen; 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; Nürnberg, Gudrun; Nürnberg, Peter; Seemann, Petra; Kunkel, Désirée; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe
Date of Publication (YYYY-MM-DD): 2009-09
Title of Journal: Nature Genetics
Volume: 41
Start Page: 1016
End Page: 1021
Document Type: Article
ID: 447542.0
Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts
Authors: Ott, Claus-Eric; Bauer, Sebastian; Manke, Thomas; Ahrens, Susan; Rödelsperger, Christian; Grünhagen, Johannes; Kornak, Uwe; Duda, Georg; Mundlos, Stefan; Robinson, Peter N.
Date of Publication (YYYY-MM-DD): 2009-07
Title of Journal: Journal of Bone and Mineral Research
Volume: 24
Issue / Number: 7
Start Page: 1247
End Page: 1262
Document Type: Article
ID: 447515.0
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
Authors: Hucthagowder, Vishwanathan; Morava, Eva; Kornak, Uwe; Lefeber, Dirk J.; Fischer, Björn; Dimopoulou, Aikaterini; Aldinger, Annika; Choi, Jiwon; Davis, Elaine C.; Abuelo, Dianne N.; Adamowicz, Maciej; Al-Aama, Jumana; Basel-Vanagaite, Lina; Fernandez, Bridget; Greally, Marie T.; Gillessen-Kaesbach, Gabriele; Kayserili, Hulya; Lemyre, Emmanuelle; Tekin, Mustafa; Türkmen, Seval; Tuysuz, Beyhan; Yüksel-Konuk, Berrin; Mundlos, Stefan; Van Maldergem, Lionel; Wevers, Ron A.; Urban, Zsolt
Date of Publication (YYYY-MM-DD): 2009-06
Title of Journal: Human Molecular Genetics
Volume: 18
Issue / Number: 12
Start Page: 2149
End Page: 2165
Document Type: Article
ID: 447495.0
Impaired gastric acidification negatively affects calcium homeostasis and bone mass
Authors: Schinke, Thorsten; Schilling, Arndt F.; Baranowsky, Anke; Seitz, Sebastian; Marshall, Robert P.; Linn, Tilman; Blaeker, Michael; Huebner, Antje K.; Schulz, Ansgar; Simon, Ronald; Gebauer, Matthias; Priemel, Matthias; Kornak, Uwe; Perkovic, Sandra; Barvencik, Florian; Beil, F. Timo; Del Fattore, Andrea; Frattini, Annalisa; Streichert, Thomas; Pueschel, Klaus; Villa, Anna; Debatin, Klaus-Michael; Rueger, Johannes M.; Teti, Anna; Zustin, Jozef; Sauter, Guido; Amling, Michael
Date of Publication (YYYY-MM-DD): 2009-06
Title of Journal: Nature Medicine
Volume: 15
Start Page: 674
End Page: 681
Document Type: Article
ID: 447554.0
Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin
Authors: Kolanczyk, Mateusz; Kühnisch, Jirko; Kossler, Nadine; Osswald, Monika; Stumpp, Sabine; Thurisch, Boris; Kornak, Uwe; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2008-07-31
Title of Journal: BMC Medicine
Volume: 31
Issue / Number: 6
Start Page: 21
End Page: 21
Document Type: Article
ID: 411640.0
 
Full text / Content available
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
Authors: Kornak, Uwe; Reynders, Ellen; Dimopoulou, Aikaterini; van Reeuwijk, Jeroen; Fischer, Bjoern; Rajab, Anna; Budde, Birgit; Nürnberg, Peter; Foulquier, Francois; Lefeber, Dirk; Urban, Zsolt; Gruenewald, Stephanie; Annaert, Wim; Brunner, Han G; van Bokhoven, Hans; Wevers, Ron; Morava, Eva; Matthijs, Gert; Van Maldergem, Lionel; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2008-01
Title of Journal: Nature Genetics
Volume: 40
Issue / Number: 1
Start Page: 32
End Page: 34
Document Type: Article
ID: 411701.0
 
Full text / Content available
Multiple roles for neurofibromin in skeletal development and growth.
Authors: Kolanczyk, Mateusz; Kossler, Nadine; Kühnisch, Jirko; Lavitas, Liron; Stricker, Sigmar; Wilkening, Ulrich; Manjubala, Inderchand; Fratzl, Peter; Spörle, Ralf; Herrmann, Bernhard G.; Parada, Luis F.; Kornak, Uwe; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2007-02-22
Title of Journal: Human Molecular Genetics
Volume: 16
Issue / Number: 8
Start Page: 232
End Page: 240
Document Type: Article
ID: 334867.0
 
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Entries: 1-10  
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