Підписатись
Magdalena M Kacprzak
Magdalena M Kacprzak
Невідома організація
Підтверджена електронна адреса в medgen.pl
Назва
Посилання
Посилання
Рік
Inhibition of furin by polyarginine-containing peptides: nanomolar inhibition by nona-D-arginine
MM Kacprzak, JR Peinado, ME Than, J Appel, S Henrich, G Lipkind, ...
Journal of Biological Chemistry 279 (35), 36788-36794, 2004
1442004
Use of HIV as a gene transfer vector
K Pluta, MM Kacprzak
Acta Biochim Pol 56 (4), 531-95, 2009
1162009
Complete genome sequence of Gluconacetobacter xylinus E25 strain—valuable and effective producer of bacterial nanocellulose
K Kubiak, M Kurzawa, M Jędrzejczak-Krzepkowska, K Ludwicka, ...
Journal of Biotechnology 176, 18-19, 2014
682014
Transcriptional regulation of methionine synthase by homocysteine and choline in Aspergillus nidulans
MM Kacprzak, I Lewandowska, RG Matthews, A Paszewski
Biochemical Journal 376 (2), 517-524, 2003
502003
Cross-inhibition between furin and lethal factor inhibitors
JR Peinado, MM Kacprzak, SH Leppla, I Lindberg
Biochemical and biophysical research communications 321 (3), 601-605, 2004
392004
Specific induction and carbon/nitrogen repression of arginine catabolism gene of Aspergillus nidulans—functional in vivo analysis of the otaA promoter
A Dzikowska, M Kacprzak, R Tomecki, M Koper, C Scazzocchio, ...
Fungal Genetics and Biology 38 (2), 175-186, 2003
372003
Novel mutations reveal two important regions in Aspergillus nidulans transcriptional activator MetR
J Brzywczy, MM Kacprzak, A Paszewski
Fungal genetics and biology 48 (2), 104-112, 2011
142011
Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in TNFRSF1A Gene in a Family of the Adult Male with …
J Zegarska, E Wiesik-Szewczyk, E Hryniewiecka, B Wolska-Kusnierz, ...
Journal of Clinical Medicine 10 (3), 465, 2021
72021
Processing and trafficking of a prohormone convertase 2 active site mutant
SN Lee, MM Kacprzak, R Day, I Lindberg
Biochemical and biophysical research communications 355 (3), 825-829, 2007
72007
Mutations of the PC2 substrate binding pocket alter enzyme specificity
MM Kacprzak, ME Than, L Juliano, MA Juliano, W Bode, I Lindberg
Journal of Biological Chemistry 280 (36), 31850-31858, 2005
72005
Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia
A Repczynska, K Julga, J Skalska-Sadowska, MM Kacprzak, ...
Orphanet Journal of Rare Diseases 17 (1), 282, 2022
62022
Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation
N Dabrowska-Leonik, AK Pastorczak, K Bąbol-Pokora, K Bernat-Sitarz, ...
Frontiers in immunology 13, 1033338, 2022
32022
A new family with spastic paraplegia type 51 and novel mutations in AP4E1
I Winkler, P Miotła, M Lejman, A Pietrzyk, M Kacprzak, M Kubiak, ...
BMC Medical Genomics 14 (1), 131, 2021
32021
Case Report: Two Newly Diagnosed Patients With KBG Syndrome—Two Different Molecular Changes
K Wojciechowska, J Nurzyńska-Flak, B Styka, M Kacprzak, M Lejman
Frontiers in Pediatrics 9, 649043, 2021
22021
Ultra-rare causes of growth and speech development delay-new cases of Alazami syndrome and Rauh-Steindl syndrome
K Polatynska, T Kaluzewski, M Kacprzak, O Drgas, M Piotrowicz, A Gach, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 177-178, 2024
2024
Patient with the Tatton-Brown-Rahman syndrome< de novo constitutive DNMT3A variant
I Jaszczuk, I Winkler, A Sobczynska-Tomaszewska, M Lejman, A Pietrzyk, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 869-869, 2020
2020
A new family with spastic paraplegia type 51 and novel mutations in AP4E1
I Winkler, P Miotla, M Lejman, A Pietrzyk, M Kacprzak, M Kubiak, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 573-574, 2020
2020
New heterozygous pathogenic variant in ABCC9 gene identified in two patients diagnosed with Cantu syndrome
K Wojciechowska, A Tarkowska, M Kacprzak, D Loska, A Pietrzyk, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 907-907, 2020
2020
Detection of a homozygous deletion of ASCC1 gene by NGS in a patient with arthrogryposis and generalized hypotonia
A Pietrzyk, M Kacprzak, D Loska, A Kruczek, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1868-1868, 2019
2019
Perinatal death associated with mutations in ATAD3A gene in Polish family-new mitochondrial disease?
E Witkowska, A Sobczynska-Tomaszewska, K Czerska, M Kacprzak, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 26, 898-899, 2018
2018
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