Variable Autoinhibition among Deafness-Associated Variants of Diaphanous 1 (DIAPH1)

A novel variant in diaphanous homolog 1 (DIAPH1) as the cause of auditory neuropathy in a Chinese family

(2020) Kan Wu et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

The integrity of cochlear hair cells is established and maintained through the localization of Dia1 at apical junctional complexes and stereocilia

(2020) Yuzuru Ninoyu et al.   Cell Death & Disease

Building and repairing the stereocilia cytoskeleton in mammalian auditory hair cells

(2019) A. Catalina Vélez-Ortega et al.   HEARING RESEARCH

Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human DIAPH1-related cytoskeletopathy

(2019) Bong Jik Kim et al.   JOURNAL OF MEDICAL GENETICS

Chlamydomonas reinhardtii formin FOR1 and profilin PRF1 are optimized for acute rapid actin filament assembly

(2019) Jenna R. Christensen et al.   MOLECULAR BIOLOGY OF THE CELL

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

(2018) Hela Azaiez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recent applications of light scattering measurement in the biological and biopharmaceutical sciences

(2016) Allen P. Minton   ANALYTICAL BIOCHEMISTRY

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

(2016) S. Stritt et al.   BLOOD

Extension of the clinical and molecular phenotype of DIAPH1 -associated autosomal dominant hearing loss (DFNA1 )

(2016) C. Neuhaus et al.   CLINICAL GENETICS

Constitutive activation of DIA1 (DIAPH1) via C‐terminal truncation causes human sensorineural hearing loss

(2016) Takehiko Ueyama et al.   EMBO Molecular Medicine

A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss

(2016) Tae-Hun Kang et al.   GENES & GENETIC SYSTEMS

Novel loss-of-function variants inDIAPH1associated with syndromic microcephaly, blindness, and early onset seizures

(2015) Almundher Al-Maawali et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The cuticular plate: A riddle, wrapped in a mystery, inside a hair cell

(2015) Lana M. Pollock et al.   BIRTH DEFECTS RESEARCH PART C-EMBRYO TODAY-REVIEWS

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

(2014) P. Noris et al.   BLOOD

Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

(2014) A Gulhan Ercan-Sencicek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Formin DAD Domain Plays Dual Roles in Autoinhibition and Actin Nucleation

(2011) Christopher J. Gould et al.   CURRENT BIOLOGY

Actin in hair cells and hearing loss

(2011) Meghan C. Drummond et al.   HEARING RESEARCH

Differential interactions of the formins INF2, mDia1, and mDia2 with microtubules

(2011) Jeremie Gaillard et al.   MOLECULAR BIOLOGY OF THE CELL

Rho activation of mDia formins is modulated by an interaction with inverted formin 2 (INF2)

(2011) H. Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Crystal Structure of the Formin mDia1 in Autoinhibited Conformation

(2010) Takanori Otomo et al.   PLoS One

Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila

(2010) C. J. Schoen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Energetic Requirements for Processive Elongation of Actin Filaments by FH1FH2-formins

(2009) Aditya S. Paul et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Specificity of Interactions between mDia Isoforms and Rho Proteins

(2008) Michael Lammers et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The formin mDia2 stabilizes microtubules independently of its actin nucleation activity

(2008) Francesca Bartolini et al.   JOURNAL OF CELL BIOLOGY