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A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review.
Mol Genet Genomic Med
November 2024
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Article Synopsis
- The study investigates the role of the DIAPH1 gene in a young Iranian boy with developmental issues and aims to understand the genetic and clinical features associated with DIAPH1-related disease.
- Researchers performed exome sequencing that identified a novel pathogenic genetic variant (c.1285C>T) linked to the patient's symptoms, which include developmental delay, microcephaly, and seizures.
- The findings suggest that the identified variant likely contributes to the patient's clinical condition and highlight a genotype-phenotype correlation by reviewing additional cases from the literature.
Decisive role of mDia-family formins in cell cortex function of highly adherent cells.
Sci Adv
November 2024
Institute for Biophysical Chemistry, Hannover Medical School, Hannover, Germany.
Cortical formins, pivotal for the assembly of linear actin filaments beneath the membrane, exert only minor effects on unconfined cell migration of weakly and moderately adherent cells. However, their impact on migration and mechanostability of highly adherent cells remains poorly understood. Here, we demonstrate that loss of cortical actin filaments generated by the formins mDia1 and mDia3 drastically compromises cell migration and mechanics in highly adherent fibroblasts.
View Article and Find Full Text PDFFMNL1 and mDia1 promote efficient T cell migration through complex environments via distinct mechanisms.
Front Immunol
October 2024
Department of Immunology & Microbiology and Barbara Davis Research Center, University of Colorado School of Medicine, Aurora, CO, United States.
Lymphocyte trafficking and migration through tissues is critical for adaptive immune function and, to perform their roles, T cells must be able to navigate through diverse tissue environments that present a range of mechanical challenges. T cells predominantly express two members of the formin family of actin effectors, Formin-like 1 (FMNL1) and mammalian diaphanous-related formin 1 (mDia1). While both FMNL1 and mDia1 have been studied individually, they have not been directly compared to determine functional differences in promoting T cell migration.
View Article and Find Full Text PDFDiaph1 knockout inhibits mouse primordial germ cell proliferation and affects gonadal development.
Reprod Biol Endocrinol
July 2024
State Key Laboratory of Reproductive Regulation and Breeding of Grassland Livestock, School of Life Sciences, Inner Mongolia University, Hohhot, 010020, Inner Mongolia, China.
Background: Exploring the molecular mechanisms of primordial germ cell (PGC) migration and the involvement of gonadal somatic cells in gonad development is valuable for comprehending the origins and potential treatments of reproductive-related diseases.
Methods: Diaphanous related formin 1 (Diaph1, also known as mDia1) was screened by analyzing publicly available datasets (ATAC-seq, DNase-seq, and RNA-seq). Subsequently, the CRISPR-Cas9 technology was used to construct Diaph1 knockout mice to investigate the role of Diaph1 in gonad development.
Coordination of actin plus-end dynamics by IQGAP1, formin, and capping protein.
J Cell Biol
September 2024
Department of Biochemistry and Molecular Biology, SUNY Upstate Medical University, Syracuse, NY, USA.
Cell processes require precise regulation of actin polymerization that is mediated by plus-end regulatory proteins. Detailed mechanisms that explain plus-end dynamics involve regulators with opposing roles, including factors that enhance assembly, e.g.
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