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Malgorzata Rydzanicz

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Articles 181
Citations 1640
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Recent Articles
1.
Weisz-Hubshman M, Burrage L, Jangam S, Rosenfeld J, von Hardenberg S, Bergmann A, et al.
Genet Med . 2025 Feb; 27(4):101369. PMID: 39891528
Purpose: Polycomb group proteins are key epigenetic transcriptional regulators. Multiple neurodevelopmental disorders are associated with pathogenic variants of the genes encoding Polycomb group proteins. RYBP is a core component of...
2.
Pawelak A, Polczyk A, Wolanska E, Klaniewska M, Biela M, Basiak A, et al.
Front Pediatr . 2024 Dec; 12:1435053. PMID: 39639951
The TRPM3 gene, part of the transient receptor potential (TRP) cation channel family, plays crucial roles in sensory perception and ion transport. Mutations in TRPM3 are linked to a range...
3.
Lesniak K, Ploski R, Rydzanicz M, Rymarz A, Lubas A, Syrylo T, et al.
Front Immunol . 2024 Dec; 15:1450048. PMID: 39620212
Cryoglobulinemia is a rare disease characterized by the presence of cryoglobulins in the blood serum. It is usually caused by autoimmune, lymphoproliferative, or infectious factors. The pathogenesis of cryoglobulinemia is...
4.
Gensterblum-Miller E, Bhangale A, Majid D, Pienkowski V, Rydzanicz M, Janiszewska J, et al.
Oral Oncol . 2024 Nov; 159:107108. PMID: 39549430
Mucoepidermoid Carcinoma (MEC) is a common salivary malignant neoplasm. Approximately 60 % of MECs harbor translocations between CRTC1 or CRTC3 and MAML2, which are thought to drive disease pathogenesis. However,...
5.
Swierkowska-Janc J, Kabza M, Rydzanicz M, Giefing M, Ploski R, Shaffer L, et al.
J Appl Genet . 2024 Oct; PMID: 39460848
In the monosomy 1p36 deletion syndrome, the role of DNA methylation in the genomic stability of the 1p36 region remains elusive. We hypothesize that changes in the methylation pattern at...
6.
Jurasz H, Bukowska-Osko I, Rydzanicz M, Popiel M, Dzieciatkowski T, Bakula-Grzadka K, et al.
Int J Mol Sci . 2024 Oct; 25(20). PMID: 39456958
virus (TTV) is a ssDNA orphan virus belonging to the family, but some recent studies suggested its possible involvement in central nervous system (CNS) pathology. We analyzed serum and cerebrospinal...
7.
Karimi K, Weis D, Aukrust I, Hsieh T, Horackova M, Paulsen J, et al.
Eur J Hum Genet . 2024 Oct; 32(12):1574-1582. PMID: 39424669
Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities syndrome (DEGCAGS, MIM #619488) is caused by biallelic, loss-of-function (LoF) ZNF699 variants, and is characterized by variable neurodevelopmental disability, discordant organ...
8.
Rydzanicz M, Kuzniewska B, Magnowska M, Wojtowicz T, Stawikowska A, Hojka A, et al.
EMBO Mol Med . 2024 Sep; 16(11):2976-3004. PMID: 39333440
There is increasing evidence of mitochondrial dysfunction in autism spectrum disorders (ASD), but the causal relationships are unclear. In an ASD patient whose identical twin was unaffected, we identified a...
9.
Bodetko A, Chrzanowska J, Rydzanicz M, Borys-Iwanicka A, Karpinski P, Bladowska J, et al.
Genes (Basel) . 2024 Feb; 15(2). PMID: 38397245
Intellectual disability with speech delay and behavioural abnormalities, as well as hypotonia, seizures, feeding difficulties and craniofacial dysmorphism, are the main symptoms associated with pathogenic variants of the gene. The...
10.
Gajecka M, Gutaj P, Jaskiewicz K, Rydzanicz M, Szczapa T, Kaminska D, et al.
Diabetologia . 2023 Nov; 67(2):312-326. PMID: 38030736
Aims/hypothesis: Body niche-specific microbiota in maternal-neonatal dyads from gravidae with type 1 diabetes have not been quantitatively and functionally examined. Similarly, the impact of pregnancy-specific factors, such as the presence...