Zandra A. Jenkins

TL;DR: It is shown that mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 lead to a recessive syndrome in humans that includes periventricular neuronal heterotopia, and these findings implicate Dchs1 and Fat4 upstream of Yap as key regulators of mammalian neurogenesis.

TL;DR: It is demonstrated that germline mutations in WTX (FAM123B), a gene that encodes a repressor of canonical WNT signaling, cause an X-linked sclerosing bone dysplasia, osteopathia striata congenita with cranial sclerosis (OSCS); individuals with OSCS are not predisposed to tumor development.

TL;DR: This work identifies a unique family of actin regulators, the refilin proteins (RefilinA and RefilinB), that stabilize specifically perinuclear actin filament bundles and identifies the actin-binding filamin A (FLNA) protein as the downstream effector of refilins.

TL;DR: In this article, a comprehensive screening of the FLNA gene in a group of 23 unrelated probands (11 familial instances, 12 simplex cases; total affected individuals 32) with frontometaphyseal dysplasia is reported.

TL;DR: In this paper, the authors used whole-exome sequencing and targeted Sanger sequencing in 19 FMD-affected individuals with no identifiable FLNA mutation to identify mutations in two genes, MAP3K7, encoding transforming growth factor β (TGF-β)-activated kinase (TAK1), and TAB2, encoding TAK1associated binding protein 2 (TAB2).