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Page 1
Small-molecule factor B inhibitor for the treatment of complement-mediated diseases.
Schubart A, Anderson K, Mainolfi N, Sellner H, Ehara T, Adams CM, Mac Sweeney A, Liao SM, Crowley M, Littlewood-Evans A, Sarret S, Wieczorek G, Perrot L, Dubost V, Flandre T, Zhang Y, Smith RJH, Risitano AM, Karki RG, Zhang C, Valeur E, Sirockin F, Gerhartz B, Erbel P, Hughes N, Smith TM, Cumin F, Argikar UA, Haraldsson B, Mogi M, Sedrani R, Wiesmann C, Jaffee B, Maibaum J, Flohr S, Harrison R, Eder J. Schubart A, et al. Proc Natl Acad Sci U S A. 2019 Apr 16;116(16):7926-7931. doi: 10.1073/pnas.1820892116. Epub 2019 Mar 29. Proc Natl Acad Sci U S A. 2019. PMID: 30926668 Free PMC article.
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP. Wade EM, et al. Am J Med Genet A. 2017 Jul;173(7):1739-1746. doi: 10.1002/ajmg.a.38267. Epub 2017 May 12. Am J Med Genet A. 2017. PMID: 28498505
This cohort consists of 15 individuals with the recently described, recurrent mutation (c.1454C>T) in MAP3K7, as well as three individuals with missense mutations that result in substitutions in the N-terminal kinase domain of TGFbeta-activated kinase 1 (TAK1), encoded …
This cohort consists of 15 individuals with the recently described, recurrent mutation (c.1454C>T) in MAP3K7, as well as three ind …
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.
Bartsch O, Labonté J, Albrecht B, Wieczorek D, Lechno S, Zechner U, Haaf T. Bartsch O, et al. Am J Med Genet A. 2010 Jan;152A(1):181-4. doi: 10.1002/ajmg.a.33153. Am J Med Genet A. 2010. PMID: 20014264
The woman had a marked learning disability, but no mental retardation. We identified a de novo c.7100delC mutation in EP300 (which predicts p.P2366RfsX35) in the woman and an apparently de novo c.638delG mutation in the boy, which predicts p.G213EfsX6. ...
The woman had a marked learning disability, but no mental retardation. We identified a de novo c.7100delC mutation in EP300 (which pr …
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.
Gangfuß A, Yigit G, Altmüller J, Nürnberg P, Czeschik JC, Wollnik B, Bögershausen N, Burfeind P, Wieczorek D, Kaiser F, Roos A, Kölbel H, Schara-Schmidt U, Kuechler A. Gangfuß A, et al. Am J Med Genet A. 2021 Apr;185(4):1216-1221. doi: 10.1002/ajmg.a.62070. Epub 2021 Jan 11. Am J Med Genet A. 2021. PMID: 33427397
The facial phenotype is characterized by arched eyebrows, mildly upslanting long palpebral fissures, prominent nasal tip, and large, protruding ears. Trio WES revealed a de novo missense variant in MEIS2 (c.998G>A; p.Arg333Lys). Haploinsufficiency of MEIS2 had been disc …
The facial phenotype is characterized by arched eyebrows, mildly upslanting long palpebral fissures, prominent nasal tip, and large, protrud …
The face of Noonan syndrome: Does phenotype predict genotype.
Allanson JE, Bohring A, Dörr HG, Dufke A, Gillessen-Kaesbach G, Horn D, König R, Kratz CP, Kutsche K, Pauli S, Raskin S, Rauch A, Turner A, Wieczorek D, Zenker M. Allanson JE, et al. Am J Med Genet A. 2010 Aug;152A(8):1960-6. doi: 10.1002/ajmg.a.33518. Am J Med Genet A. 2010. PMID: 20602484 Free PMC article.
Theoretical and experimental NMR studies on muscimol from fly agaric mushroom (Amanita muscaria).
Kupka T, Wieczorek PP. Kupka T, et al. Spectrochim Acta A Mol Biomol Spectrosc. 2016 Jan 15;153:216-25. doi: 10.1016/j.saa.2015.08.026. Epub 2015 Aug 18. Spectrochim Acta A Mol Biomol Spectrosc. 2016. PMID: 26312739
In this article we report results of combined theoretical and experimental NMR studies on muscimol, the bioactive alkaloid from fly agaric mushroom (Amanita muscaria). The assignment of (1)H and (13)C NMR spectra of muscimol in DMSO-d6 was supported by additional two-dimen …
In this article we report results of combined theoretical and experimental NMR studies on muscimol, the bioactive alkaloid from fly agaric m …
Responses of heat stressed chickens to exogenous reverse triiodothyronine (rT3).
Bobek S, Sechman A, Wieczorek E, Wrońska-Fortuna D, Koziec K, Niezgoda J. Bobek S, et al. Zentralbl Veterinarmed A. 1996 Nov;43(9):521-30. doi: 10.1111/j.1439-0442.1996.tb00484.x. Zentralbl Veterinarmed A. 1996. PMID: 8968161
The dose was 14 micrograms rT3/100 gb.wt./injection (s.c.). It has been shown that rT3 treatment aggravates heat stress symptoms (enhances circulating corticosterone, catecholamines and free fatty acids) and increases mortality. ...In a neutral environment, rT3 significant …
The dose was 14 micrograms rT3/100 gb.wt./injection (s.c.). It has been shown that rT3 treatment aggravates heat stress symptoms (enh …
Influence of plasticizer type on the properties of polymer electrolytes based on chitosan.
Pawlicka A, Danczuk M, Wieczorek W, Zygadło-Monikowska E. Pawlicka A, et al. J Phys Chem A. 2008 Sep 25;112(38):8888-95. doi: 10.1021/jp801573h. Epub 2008 Aug 28. J Phys Chem A. 2008. PMID: 18754600
The best ionic conductivity values of 9.5 x 10(-4) S cm(-1) at room temperature and 2.5 x 10(-3) S cm(-1) at 80 degrees C were obtained for the sample containing 59 wt% of glycerol and an equimolar amount of HCl with respect to NH2 groups in chitosan. ...The thermal analys …
The best ionic conductivity values of 9.5 x 10(-4) S cm(-1) at room temperature and 2.5 x 10(-3) S cm(-1) at 80 degrees C were obtain …