These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2.
    Author: Schnur RE, Dvořáček L, Kalsner L, Shapiro FL, Grebeňová D, Yanni D, Wasserman BN, VIGORVirtual Genome Center for Infant Health (VIGOR) Group, Boston, Massachusetts, USA., Dyer LM, Antonarakis SE, Kuželová K.
    Journal: Clin Genet; 2024 Oct; 106(4):518-524. PubMed ID: 38894571.
    Abstract:
    The p21-activated kinase (PAK) family of proteins regulates various processes requiring dynamic cytoskeleton organization such as cell adhesion, migration, proliferation, and apoptosis. Among the six members of the protein family, PAK2 is specifically involved in apoptosis, angiogenesis, or the development of endothelial cells. We report a novel de novo heterozygous missense PAK2 variant, p.(Thr406Met), found in a newborn with clinical manifestations of Knobloch syndrome. In vitro experiments indicated that this and another reported variant, p.(Asp425Asn), result in substantially impaired protein kinase activity. Similar findings were described previously for the PAK2 p.(Glu435Lys) variant found in two siblings with proposed Knobloch syndrome type 2 (KNO2). These new variants support the association of PAK2 kinase deficiency with a second, autosomal dominant form of Knobloch syndrome: KNO2.
    [Abstract] [Full Text] [Related] [New Search]