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Grabarczyk A, Wertheim-Tysarowska K, Bal J. Dysplazje ektodermalne – mechanizmy molekularne odpowiedzialne za występowanie najczęstszych zespołów chorobowych. Ectodermal dysplasias – molecular mechanisms responsible for occurrence of most frequent syndroms. Postepy Biochem. 2021;67(3):248-258doi: 10.18388/pb.2021_392.
Grabarczyk, A., Wertheim-Tysarowska, K., & Bal, J. (2021). Dysplazje ektodermalne – mechanizmy molekularne odpowiedzialne za występowanie najczęstszych zespołów chorobowych. Ectodermal dysplasias – molecular mechanisms responsible for occurrence of most frequent syndroms. Postepy biochemii, 67(3), 248-258. https://doi.org/10.18388/pb.2021_392
Grabarczyk, Alicja, et al. "Dysplazje ektodermalne – mechanizmy molekularne odpowiedzialne za występowanie najczęstszych zespołów chorobowych." Ectodermal dysplasias – molecular mechanisms responsible for occurrence of most frequent syndroms. Postepy biochemii vol. 67,3 (2021): 248-258. doi: https://doi.org/10.18388/pb.2021_392
Grabarczyk A, Wertheim-Tysarowska K, Bal J. Dysplazje ektodermalne – mechanizmy molekularne odpowiedzialne za występowanie najczęstszych zespołów chorobowych. Ectodermal dysplasias – molecular mechanisms responsible for occurrence of most frequent syndroms. Postepy Biochem. 2021 Jul 23;67(3):248-258. doi: 10.18388/pb.2021_392. Print 2021 Sep 30. Polish. PMID: 34894390.
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Postepy Biochem. 2021 Jul 23;67(3):248-258. doi: 10.18388/pb.2021_392. Print 2021 Sep 30.

Ectodermal dysplasias – molecular mechanisms responsible for occurrence of most frequent syndroms.

Postepy biochemii

[Article in Polish]
Alicja Grabarczyk, Katarzyna Wertheim-Tysarowska, Jerzy Bal

Affiliations

  1. Instytut Matki i Dziecka, Warszawa. [email protected].
  2. . [email protected].
  3. . [email protected].

PMID: 34894390 DOI: 10.18388/pb.2021_392

Abstract

Ectodermal dysplasias are a wide group of genetic disorders characterised by clinical symptoms in ectodermal derivatives (most frequently teeth, hair, nails and sweat glands). There is a number of genes, which, if mutated, can cause the specified phenotype. The molecular basis of many ectodermal dysplasias have been investigated. The phenotype often results from the imparied communication in molecular pathways important in embryonic morphogenesis or disturbed function of protein complexes involved in homeostasis, adhesion and stability of the cells in the tissue. Different classification systems have been proposed to group ectodermal dysplasias according to clinical symptoms or molecular basis. Molecular technologies have let recently to expand diagnostic abilities for ectodermal dysplasias patients. Certainly in the nearest years new genes and mutations will be discovered as a cause of ectodermal dysplasias.

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