Genomics

Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population.
Matczyńska E, Szymańczak R, Stradomska K, Łyszkiewicz P, Jędrzejowska M, Kamińska K, Beć-Gajowniczek M, Suchecka E, Zagulski M, Wiącek M, Wylęgała E, Machalińska A, Mossakowska M, Puzianowska-Kuźnicka M, Teper S, Boguszewska-Chachulska A.
Genes (Basel) 2024, 15, 1011. doi: 10.3390/genes15081011.

Polygenic Risk Score and Rare Variant Burden Identified by Targeted Sequencing in a Group of Patients with Pigment Epithelial Detachment in Age-Related Macular Degeneration.
Wąsowska A, Sendecki A, Boguszewska-Chachulska A, Teper S. Genes 2023, 14, 1707. doi.org/10.3390/genes14091707

Polygenic Risk Score Impact on Susceptibility to Age-Related Macular Degeneration in Polish Patients.
Wąsowska A, Teper S, Matczyńska E, Łyszkiewicz P, Sendecki A, Machalińska A, Wylęgała E, Boguszewska-Chachulska A. J Clin Med. 2023,12:295. doi: 10.3390/jcm12010295.

Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy
management and outcomes. Mossfield T, Soster E, Menezes M, Agenbag G, Dubois M-L, Gekas J, Hardy T, Jurkowska M, Kleinfinger P, Loggenberg K, Marchili P & Sirica R. Frontiers in Genetics. 2022; 10.3389/fgene.2022.975987

Retinal Vessel Functionality Is Linked With ARMS2 A69S and CFH Y402H Polymorphisms and Choroidal Status in AMD Patients
Krytkowska E, Ulańczyk Z, Grabowicz A, Mozolewska-Piotrowska K, Safranow K, Pałucha A, Krawczyk M, Sikora P, Matczyńska E, Stahl A, Machaliński B, Machalińska A.
Invest Ophthalmol Vis Sci. 2021; 62(4): 30. doi: 10.1167/iovs.62.4.30

Genetic factors associated with age-related macular degeneration: identification of a novel PRPH2 single nucleotide polymorphism associated with increased risk of the disease.
Ulańczyk Z, Grabowicz A, Mozolewska-Piotrowska K, Safranow K, Kawa MP, Pałucha A, Krawczyk M, Sikora P, Matczyńska E, Machaliński B, Machalińska A. Acta Ophthalmol. 2021: 99: 739–749. doi: 10.1111/aos.14721.

Associations of microRNAs, Angiogenesis-Regulating Factors and CFH Y402H Polymorphism-An Attempt to Search for Systemic Biomarkers in Age-Related Macular Degeneration.
Ulańczyk Z, Sobuś A, Łuczkowska K, Grabowicz A, Mozolewska-Piotrowska K, Safranow K, Kawa MP, Pałucha A, Krawczyk M, Sikora P, Matczyńska E, Machaliński B, Machalińska A.
Int J Mol Sci. 2019;20(22). pii: E5750. doi: 10.3390/ijms20225750.

The application of next-generation sequencing (NGS) for monitoring of Zymoseptoria tritici QoI resistance.
Katarzyna Pieczul, Anna Wąsowska. Crop Prot 92C (2017) pp. 143-147

Transcriptome profiling of a Rhizobium leguminosarum bv. trifolii rosR mutant reveals the role of the transcriptional regulator RosR in motility, synthesis of cell-surface components, and other cellular processes.
Rachwał  K., Matczyńska E., Janczarek M., BMC Genomics 2015;16(1):1111

Complete genome sequence of Gluconacetobacter xylinus E25 strain-Valuable and effective producer of bacterial nanocellulose.
Kubiak K, Kurzawa M, Jędrzejczak-Krzepkowska M, Ludwicka K, Krawczyk M, Migdalski A, Kacprzak MM, Loska D, Krystynowicz A, Bielecki S.,J Biotechnol. 2014;176C:18-1

Diagnostics of inherited diseases

Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E, Beć-Gajowniczek M, Sivitskaya L, Gregorczyk E, Łyszkiewicz P, Szymańczak R, Jędrzejowska M, Wylęgała E, Krawczyński MR, Teper S, Boguszewska-Chachulska A.  Biomedicines. 2024, 12(6):1355. doi: 10.3390/biomedicines12061355.

Influence of Clinical and Genetic Factors on the Progression of Age-Related Macular Degeneration: A 3-Year Follow-Up.
Krytkowska E, Ulańczyk Z, Grabowicz A, Safranow K, Kawa MP, Pałucha A, Wąsowska A, Matczyńska E, Boguszewska-Chachulska A, Machalińska A. J Clin Med. 2023;12(5):1963. doi: 10.3390/jcm12051963.

A Rare Mutation in The APOB Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia
Joanna Musialik, Anna Boguszewska-Chachulska, Dorota Pojda-Wilczek, Agnieszka Gorzkowska, Robert Szymańczak, Magdalena Kania, Agata Kujawa-Szewieczek, Małgorzata Wojcieszyn, Marek Hartleb and Andrzej Więcek.
Molecular Mechanisms of Human Liver Diseases, 20 February 2020.

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.
Oliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, Boguszewska-Chachulska AM, Korczyn A, Bisulli F, Di Bonaventura C, Ragona F, Michelucci, Ben-Zeev B, Straussberg R, Panzica F, Massano J, Friedman D, Crespel A, Engelsen BA, Andermann F, Andermann E, Spodar, Lasek-Bal A, Riguzzi P, Pasini E, Tinuper P, Licchetta L, Gardella E, Lindenau M, Wulf A, Møller RS, Benninger F, Afawi Z, Rubboli G, Reid CA, Maljevic S, Lerche H, Lehesjoki AE, Petrou S, Berkovic SF. Ann Neurol. 2017;81(5):677-689

Melanoma and skin cancers in psoriatic patients treated with phototherapy. Role of the p16 protein in psoriasis 
Anna Szponar-Bojda, Aldona Pietrzak, Agnieszka Sobczynska-Tomaszewska, Adam Borzecki, Andrzej Kurylcio, Wojciech Polkowski, Anna Poluha, Grażyna Chodorowska, Folia Histochem Cytobiol. 2012;50(4):491-6

IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a Polish patient

Aldona Pietrzak, Jean Kanitakis, Grzegorz Staśkiewicz, Agnieszka Sobczyńska-Tomaszewska, Ewa Dybiec, Justyna Szumiło, Grzegorz Kandzierski, Bartłomiej Wawrzycki, Grażyna Chodorowska, Eur J Dermatol. 2012;22(4):467-72

Involvement of genetic factors in the response to a variable-dosing ranibizumab treatment regimen for age-related macular degeneration
Slawomir J. Teper, Anna Nowinska, Jaroslaw Pilat, Andrzej Palucha , Edward Wylegala Molecular Vision 2010; 16:2598-2604

Mukowiscydoza - autor dr n med. Agnieszka Sobczyńska-Tomaszewska

Mild CFTR mutations and genetic predisposition to lactase persistence in cystic fibrosis
Edyta Mądry, Ewa Fidler, Agnieszka Sobczyńska-Tomaszewska , Aleksandra Lisowska, Patrycja Krzyżanowska, Andrzej Pogorzelski , Łukasz Minarowski , Beata Oralewska, Ewa Mojs, Ewa Sapiejka, Ryszard Marciniak, Dorota Sands, Anna Korzon-Burakowska, Jarosław Kwiecień and Jarosław Walkowiak

Czy wynik badania genetycznego jest potrzebny pacjentowi i jego rodzinie? Nowe trendy leczenia w mukowiscydozie – fikcja czy przyszłość?
Agnieszka Sobczyńska-Tomaszewska

Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia
Agnieszka Jurecka, Ewa Piotrowska, Loreta Cimbalistiene, Nina Gusina, Agnieszka Sobczyńska, Barbara Czartoryska, Kamila Czerska, Katrin Ounap, Grzegorz Węgrzyn, Anna Tylki-Szymańska

Abstracts at international conferences

Chapters in Books/Manuals

Helicases
Fluorometric Assay of Hepatitis C Virus NS3 Helicase Activity
Mariusz Krawczyk , Anna Stankiewicz-Drogoń , Anne-Lise Haenni, and Anna Boguszewska-Chachulska

Review articles

Use of HIV as a gene transfer vector
Krzysztof Pluta and Magdalena M. Kacprzak
Acta Biochimica Polonica, 56(4), 531-595, Review

Searching for anti-HCV drugs

Synthesis of New Acridone Derivatives, Inhibitors of NS3 Helicase, Which Efficiently and Specifically Inhibit Subgenomic HCV Replication
Anna Stankiewicz-Drogoń, Bernd Drner, Thomas Erker and Anna M. Boguszewska-Chachulska
J Med Chem. 2010 Apr 22;53(8):3117-26.

Amidinoanthracyclines – a new group of potential anti-hepatitis C virus compounds
Krawczyk M , Wasowska-Lukawska M, Oszczapowicz I, Boguszewska-Chachulska AM .
Biol Chem. 2009 Apr;390(4):351-60.

Making Improvements to Standard of Care for HCV, Small Molecule Combination Therapies Are Being Investigated to Increase Response Rates
Genetic Engineering & Biotechnology News, Mar 15 2009 (Vol. 29, No. 6)

Studies on the anti-hepatitis C virus activity of newly synthesized tropolone derivatives: identification of NS3 helicase inhibitors that specifically inhibit subgenomic HCV replication.
Najda-Bernatowicz A, Krawczyk M , Stankiewicz-Drogoń A, Bretner M, Boguszewska-Chachulska AM . Bioorg Med Chem. 2010 Jul 15;18(14):5129-36.

Participation in R&D projects

Badanie potencjalnych leków przeciwko wirusowi zapalenia wątroby typu C (HCV) w unikalnej hodowli wirusa

Kierownik: prof. dr hab. Kazimierz Madaliński
Instytucja realizująca: Narodowy Instytut Zdrowia Publicznego - Państwowy Zakład Higieny (NIZP - PZH)
Typ projektu: własny
Dyscyplina naukowa: Nauki Farmaceutyczne
Numer wniosku: NN 40513253