{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T14:48:28Z","timestamp":1776782908295,"version":"3.51.2"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,6,18]],"date-time":"2024-06-18T00:00:00Z","timestamp":1718668800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The p21\u2010activated 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\n                    <jats:italic>PAK2<\/jats:italic>\n                    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.\n                  <\/jats:p>","DOI":"10.1111\/cge.14578","type":"journal-article","created":{"date-parts":[[2024,6,19]],"date-time":"2024-06-19T01:53:51Z","timestamp":1718762031000},"page":"518-524","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["New kinase\u2010deficient\n                    <scp>PAK2<\/scp>\n                    variants associated with Knobloch syndrome type 2"],"prefix":"10.1111","volume":"106","author":[{"given":"Rhonda E.","family":"Schnur","sequence":"first","affiliation":[{"name":"Cooper Medical School of Rowan University  Camden New Jersey USA"},{"name":"Division of Genetics Cooper University Healthcare  Camden New Jersey USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luk\u00e1\u0161","family":"Dvo\u0159\u00e1\u010dek","sequence":"additional","affiliation":[{"name":"Institute of Hematology and Blood Transfusion  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louisa","family":"Kalsner","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Pediatrics, Genetics Division University of Connecticut School of Medicine, Connecticut Children's Medical Center  Hartford Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faye L.","family":"Shapiro","sequence":"additional","affiliation":[{"name":"Division of Genetics Cooper University Healthcare  Camden New Jersey USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dana","family":"Grebe\u0148ov\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Hematology and Blood Transfusion  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Yanni","sequence":"additional","affiliation":[{"name":"Division of Neonatology Cooper University Healthcare  Camden New Jersey USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barry N.","family":"Wasserman","sequence":"additional","affiliation":[{"name":"Division of Neonatology Cooper University Healthcare  Camden New Jersey USA"},{"name":"Wills Eye Hospital Sidney Kimmel Medical College at Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"VIGOR","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa M.","family":"Dyer","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stylianos E.","family":"Antonarakis","sequence":"additional","affiliation":[{"name":"University of Geneva Medical School  Geneva Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kate\u0159ina","family":"Ku\u017eelov\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Hematology and Blood Transfusion  Prague Czech 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KalsnerL EwaldJ et al.Ade novovariant inPAK2detected in an individual with Knobloch type 2 syndrome.bioRxiv 2024: 2024.04.18.590108."},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-021-02383-z"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/21.7.1535"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-53665-6"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E18-08-0486"}],"container-title":["Clinical 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