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Case Report

6 Citations

4,214 Views

15 Pages

De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome

Mateusz Dawidziuk,
Anna Kutkowska-Kazmierczak,
Ewelina Bukowska-Olech,
Marta Jurek,
Ewa Kalka,
Dorothy Lys Guilbride,
Mariusz Ireneusz Furmanek,
Monika Bekiesinska-Figatowska,
Jerzy Bal and
Pawel Gawlinski

Int. J. Mol. Sci.2022, 23(2), 692;https://doi.org/10.3390/ijms23020692

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8 January 2022

Actin molecules are fundamental for embryonic structural and functional differentiation; γ-actin is specifically required for the maintenance and function of cytoskeletal structures in the ear, resulting in hearing. Baraitser–Winter Syndr...

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Article

28 Citations

8,508 Views

21 Pages

The Actin Cytoskeleton Responds to Inflammatory Cues and Alters Macrophage Activation

Elsa Ronzier,
Alexander J. Laurenson,
Rohini Manickam,
Sophia Liu,
Imelda M. Saintilma,
Dillon C. Schrock,
John A. Hammer and
Jeremy D. Rotty

Cells2022, 11(11), 1806;https://doi.org/10.3390/cells11111806

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31 May 2022

Much remains to be learned about the molecular mechanisms underlying a class of human disorders called actinopathies. These genetic disorders are characterized by loss-of-function mutations in actin-associated proteins that affect immune cells, leadi...

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