1 - 25 of 60 results for author:"Sticht H." in Literature citations
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| An inhibitory peptide derived from the alpha-subunit of the epithelial sodium channel (ENaC) shows a helical conformation. Haerteis S., Schaal D., Brauer F., Bruschke S., Schweimer K., Rauh R., Sticht H., Rosch P., Schwarzinger S., Korbmacher C. Cell. Physiol. Biochem. 29:761-774(2012) · Mapped (5) |
| A molecular model for the differential activation of STAT3 and STAT6 by the herpesviral oncoprotein tip. Mazumder E.D., Jardin C., Vogel B., Heck E., Scholz B., Lengenfelder D., Sticht H., Ensser A. PLoS ONE 7:e34306-e34306(2012) · Mapped (17) |
| Functional null mutations in the gonosomal homologue gene TBL1Y are associated with non-syndromic coarctation of the aorta. Tagariello A., Breuer C., Birkner Y., Schmidt S., Koch A.M., Cesnjevar R., Ruffer A., Dittrich S., Schneider H., Winterpacht A. et al. Curr. Mol. Med. 12:199-205(2012) · Mapped (2) |
| Variants in ASB10 are associated with open-angle glaucoma. Pasutto F., Keller K.E., Weisschuh N., Sticht H., Samples J.R., Yang Y.F., Zenkel M., Schlotzer-Schrehardt U., Mardin C.Y., Frezzotti P. et al. Hum. Mol. Genet. 21:1336-1349(2012) · Mapped (1) |
| Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy. Haberlova J., Mazanec R., Ridzon P., Barankova L., Nurnberg G., Nurnberg P., Sticht H., Huehne K., Seeman P., Rautenstrauss B. J. Neurogenet. 25:182-188(2011) · Mapped (11) |
| Differential contribution of EF-hands to the Ca²⁺-dependent activation in the plant two-pore channel TPC1. Schulze C., Sticht H., Meyerhoff P., Dietrich P. Plant J. 68:424-432(2011) · Mapped (2) |
| Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. Rotthier A., Penno A., Rautenstrauss B., Auer-Grumbach M., Stettner G.M., Asselbergh B., Van Hoof K., Sticht H., Levy N., Timmerman V. et al. Hum. Mutat. 32:E2211-E2225(2011) · UniProtKB (1) · Mapped (3) |
| Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). Templin C., Ghadri J.R., Rougier J.S., Baumer A., Kaplan V., Albesa M., Sticht H., Rauch A., Puleo C., Hu D. et al. Eur. Heart J. 32:1077-1088(2011) · Mapped (7) |
| Mouse ApoM displays an unprecedented seven-stranded lipocalin fold: folding decoy or alternative native fold? Sevvana M., Kassler K., Ahnstrom J., Weiler S., Dahlback B., Sticht H., Muller Y.A. J. Mol. Biol. 404:363-371(2010) · UniProtKB (1) |
| Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Zweier M., Gregor A., Zweier C., Engels H., Sticht H., Wohlleber E., Bijlsma E.K., Holder S.E., Zenker M., Rossier E. et al. Hum. Mutat. 31:722-733(2010) · Mapped (5) |
| Impact of the C-terminal disulfide bond on the folding and stability of onconase. Schulenburg C., Weininger U., Neumann P., Meiselbach H., Stubbs M.T., Sticht H., Balbach J., Ulbrich-Hofmann R., Arnold U. Chembiochem 11:978-986(2010) · Mapped (1) |
| A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na+ self inhibition. Rauh R., Diakov A., Tzschoppe A., Korbmacher J., Azad A.K., Cuppens H., Cassiman J.J., Dotsch J., Sticht H., Korbmacher C. J. Physiol. (Lond.) 588:1211-1225(2010) · Mapped (5) |
| Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. Pasutto F., Matsumoto T., Mardin C.Y., Sticht H., Brandstatter J.H., Michels-Rautenstrauss K., Weisschuh N., Gramer E., Ramdas W.D., van Koolwijk L.M. et al. Am. J. Hum. Genet. 85:447-456(2009) · UniProtKB (1) · Mapped (6) |
| Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. Thiel C., Wilken M., Zenker M., Sticht H., Fahsold R., Gusek-Schneider G.C., Rauch A. Am. J. Med. Genet. A 149A:1263-1267(2009) · Mapped (10) |
| Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Leal A., Huehne K., Bauer F., Sticht H., Berger P., Suter U., Morera B., Del Valle G., Lupski J.R., Ekici A. et al. Neurogenetics 10:275-287(2009) · UniProtKB (1) · Mapped (30) |
| Conformational switch upon phosphorylation: human CDK inhibitor p19INK4d between the native and partially folded state. Low C., Homeyer N., Weininger U., Sticht H., Balbach J. ACS Chem. Biol. 4:53-63(2009) · Mapped (1) |
| Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. Zweier C., Sticht H., Bijlsma E.K., Clayton-Smith J., Boonen S.E., Fryer A., Greally M.T., Hoffmann L., den Hollander N.S., Jongmans M. et al. J. Med. Genet. 45:738-744(2008) · UniProtKB (1) |
| Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. Chavarria-Soley G., Sticht H., Aklillu E., Ingelman-Sundberg M., Pasutto F., Reis A., Rautenstrauss B. |
| PNUTS forms a trimeric protein complex with GABA(C) receptors and protein phosphatase 1. Rose M., Dutting E., Schroder N., Sticht H., Brandstatter J.H., Enz R. Mol. Cell. Neurosci. 37:808-819(2008) · Mapped (12) |
| Profiling of WDR36 missense variants in German patients with glaucoma. Pasutto F., Mardin C.Y., Michels-Rautenstrauss K., Weber B.H., Sticht H., Chavarria-Soley G., Rautenstrauss B., Kruse F., Reis A. Invest. Ophthalmol. Vis. Sci. 49:270-274(2008) · Mapped (2) |
| A proline to glycine mutation in the Lck SH3-domain affects conformational sampling and increases ligand binding affinity. Bauer F., Sticht H. FEBS Lett. 581:1555-1560(2007) · Mapped (5) |
| Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Pasutto F., Sticht H., Hammersen G., Gillessen-Kaesbach G., FitzPatrick D.R., Nuernberg G., Brasch F., Schirmer-Zimmermann H., Tolmie J.L., Chitayat D. et al. Am. J. Hum. Genet. 80:550-560(2007) · UniProtKB (1) · Mapped (9) |
| Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Zweier C., Sticht H., Aydin-Yaylagul I., Campbell C.E., Rauch A. Am. J. Hum. Genet. 80:510-517(2007) · UniProtKB (1) · Mapped (2) |
| Dual selection pressure by drugs and HLA class I-restricted immune responses on human immunodeficiency virus type 1 protease. Mueller S.M., Schaetz B., Eismann K., Bergmann S., Bauerle M., Schmitt-Haendle M., Walter H., Schmidt B., Korn K., Sticht H. et al. J. Virol. 81:2887-2898(2007) · UniProtKB (94) |
| Crystal structure analysis and solution studies of human Lck-SH3; zinc-induced homodimerization competes with the binding of proline-rich motifs. Romir J., Lilie H., Egerer-Sieber C., Bauer F., Sticht H., Muller Y.A. J. Mol. Biol. 365:1417-1428(2007) · Mapped (1) |