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Karolina Antosik

Explore the profile of Karolina Antosik including associated specialties, affiliations and a list of published articles. Areas
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Articles 26
Citations 168
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Recent Articles
1.
Ploszaj T, Antosik K, Jakiel P, Zmyslowska A, Borowiec M
Endocrine . 2021 May; 73(3):752-757. PMID: 34019234
Aims: Maturity-onset diabetes of the young (MODY) is one of the rare monogenic forms of diabetes. To date, about 12 genes in the scientific literature are closely related to the...
2.
Jeziorny K, Antosik K, Jakiel P, Mlynarski W, Borowiec M, Zmyslowska A
Genes (Basel) . 2020 Nov; 11(11). PMID: 33138063
Bardet-Biedl syndrome (BBS) is a rare autosomal recessively inherited disease with major clinical symptoms such as: obesity, retinal degeneration, polydactyly and renal abnormalities. The aim of the study was to...
3.
Chrzanowska-Steglinska M, Moczulska H, Skoczylas B, Pietrusinski M, Antosik K, Jakiel P, et al.
Eur J Obstet Gynecol Reprod Biol . 2020 Jul; 252:252-255. PMID: 32629226
Introduction: Recurrent miscarriage is a serious clinical problem that affects 1-5 % of all couples trying to conceive. Although the incidence of Smith-Lemli-Opitz Syndrome (SLOS, OMIM #270400), an autosomal recessive...
4.
Ploszaj T, Antosik K, Mludzik P, Traczyk-Borszynska M, Borowiec M
Comput Methods Programs Biomed . 2020 May; 194:105529. PMID: 32470904
Background And Objective: Mitochondrial diseases are a frequent cause of inherited genetic disorders caused by mutations in both the mitochondrial and nuclear human genome. The new technique of high-throughput sequencing,...
5.
Sztromwasser P, Michalak A, Malachowska B, Mludzik P, Antosik K, Hogendorf A, et al.
Pediatr Diabetes . 2019 Dec; 21(3):422-430. PMID: 31825128
Background/objectives: Patients referred for HNF1B testing present very heterogeneous phenotypes. Despite suggestive characteristics, many do not harbor mutations in HNF1B. Our objective was to evaluate the clinical characteristics of probands...
6.
Zmyslowska A, Ciborowski M, Borowiec M, Fendler W, Pietrowska K, Parfieniuk E, et al.
J Proteome Res . 2017 Sep; 16(11):4000-4008. PMID: 28895401
Wolfram syndrome (WFS) is an example of a rare neurodegenerative disease with coexisting endocrine symptoms including diabetes mellitus as the first clinical symptom. Treatment of WFS is still only symptomatic...
7.
Malachowska B, Borowiec M, Antosik K, Michalak A, Baranowska-Jazwiecka A, Deja G, et al.
Pediatr Diabetes . 2017 Apr; 19(1):53-58. PMID: 28436179
Background: Estimated monogenic diabetes (MD) prevalence increases as screening programs proceeds. Objective: To estimate prevalence of MD among Polish children. Subjects: Patients and their family members suspected of suffering from...
8.
Hogendorf A, Pietrzak I, Antosik K, Borowiec M, Mlynarski W
Pediatr Endocrinol Diabetes Metab . 2017 Mar; 22(2):71-75. PMID: 28329776
We present a 15-year-old Caucasian boy with an exceptional coincidence of a rare monogenic metabolic disease - alkaptonuria (AKU) and a cluster of autoimmune disorders: type 1 diabetes (T1DM), autoimmune...
9.
Gorzelak-Pabis P, Luczak E, Wojdan K, Antosik K, Borowiec M, Broncel M, et al.
Postepy Hig Med Dosw (Online) . 2017 Mar; 71(0):162-169. PMID: 28258676
Background: Human vascular endothelial function and integrity may be regulated by many non-specific factors. However, the potential influence of specific antigens via an IgE-mediated mechanism remains unknown. The aim of...
10.
Antosik K, Borowiec M
Arch Immunol Ther Exp (Warsz) . 2017 Jan; 64(Suppl 1):157-160. PMID: 28083605
Monogenic diabetes is a rare genetic type of diabetes caused by pancreatic β-cells dysfunction. All subtypes of monogenic diabetes are recognized in the pediatric population. They include maturity onset diabetes...