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Page 1
Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome).
Siddiqui A, Dundar H, Sharma J, Kaczmarczyk A, Echols J, Dai Y, Sun CR, Du M, Liu Z, Zhao R, Wood T, Sanders S, Rasmussen L, Bostwick JR, Augelli-Szafran C, Suto M, Rowe SM, Bedwell DM, Keeling KM. Siddiqui A, et al. Among authors: kaczmarczyk a. Int J Mol Sci. 2023 Feb 24;24(5):4521. doi: 10.3390/ijms24054521. Int J Mol Sci. 2023. PMID: 36901952 Free PMC article.
Plasma bikunin: half-life and tissue uptake.
Kaczmarczyk A, Blom AM, Alston-Smith J, Sjöquist M, Fries E. Kaczmarczyk A, et al. Mol Cell Biochem. 2005 Mar;271(1-2):61-7. doi: 10.1007/s11010-005-5282-3. Mol Cell Biochem. 2005. PMID: 15881656
Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).
Gentsch M, Kaczmarczyk A, van Leeuwen K, de Boer M, Kaus-Drobek M, Dagher MC, Kaiser P, Arkwright PD, Gahr M, Rösen-Wolff A, Bochtler M, Secord E, Britto-Williams P, Saifi GM, Maddalena A, Dbaibo G, Bustamante J, Casanova JL, Roos D, Roesler J. Gentsch M, et al. Among authors: kaczmarczyk a. Hum Mutat. 2010 Feb;31(2):151-8. doi: 10.1002/humu.21156. Hum Mutat. 2010. PMID: 19953534 Free article.
Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression.
Popławski AB, Jankowski M, Erickson SW, Díaz de Ståhl T, Partridge EC, Crasto C, Guo J, Gibson J, Menzel U, Bruder CE, Kaczmarczyk A, Benetkiewicz M, Andersson R, Sandgren J, Zegarska B, Bała D, Srutek E, Allison DB, Piotrowski A, Zegarski W, Dumanski JP. Popławski AB, et al. Among authors: kaczmarczyk a. Eur J Hum Genet. 2010 May;18(5):560-8. doi: 10.1038/ejhg.2009.230. Epub 2010 Jan 6. Eur J Hum Genet. 2010. PMID: 20051991 Free PMC article.