Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations

Phenotypic similarities and differences in patients with a p.Met112Ile mutation inSOX10

(2014) Veronique Pingault et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SOX10mutations mimic isolated hearing loss

(2014) V. Pingault et al.   CLINICAL GENETICS

Long Noncoding RNA NEAT1-Dependent SFPQ Relocation from Promoter Region to Paraspeckle Mediates IL8 Expression upon Immune Stimuli

(2014) Katsutoshi Imamura et al.   MOLECULAR CELL

Double-strand break repair deficiency in NONO knockout murine embryonic fibroblasts and compensation by spontaneous upregulation of the PSPC1 paralog

(2014) Shuyi Li et al.   NUCLEIC ACIDS RESEARCH

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

(2013) Veronique Pingault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sox appeal – Sox10 attracts epigenetic and transcriptional regulators in myelinating glia

(2013) Matthias Weider et al.   BIOLOGICAL CHEMISTRY

The role of SOX10 during enteric nervous system development

(2013) Nadege Bondurand et al.   DEVELOPMENTAL BIOLOGY

Compromised paraspeckle formation as a pathogenic factor in FUSopathies

(2013) Tatyana A. Shelkovnikova et al.   HUMAN MOLECULAR GENETICS

The transcription-splicing protein NonO/p54nrb and three NonO-interacting proteins bind to distal enhancer region and augment rhodopsin expression

(2013) Sharda P. Yadav et al.   HUMAN MOLECULAR GENETICS

An Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung Disease

(2013) Laure Lecerf et al.   HUMAN MUTATION

NEAT1 long noncoding RNA regulates transcription via protein sequestration within subnuclear bodies

(2013) Tetsuro Hirose et al.   MOLECULAR BIOLOGY OF THE CELL

A NONO-gate times the cell cycle

(2013) B. Maier et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Paraspeckle formation during the biogenesis of long non-coding RNAs

(2013) Takao Naganuma et al.   RNA Biology

The developmental etiology and pathogenesis of Hirschsprung disease

(2013) Naomi E. Butler Tjaden et al.   Translational Research

The long non-coding RNA nuclear-enriched abundant transcript 1_2 induces paraspeckle formation in the motor neuron during the early phase of amyotrophic lateral sclerosis

(2013) Yoshinori Nishimoto et al.   Molecular Brain

Olfactory ensheathing glia are required for embryonic olfactory axon targeting and the migration of gonadotropin-releasing hormone neurons

(2013) P. Barraud et al.   Biology Open

Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome andSOX10Mutations

(2012) M. Elmaleh-Bergès et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Paraspeckle nuclear bodies—useful uselessness?

(2012) Shinichi Nakagawa et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Building a brain in the gut: development of the enteric nervous system

(2012) AM Goldstein et al.   CLINICAL GENETICS

Alternative 3′-end processing of long noncoding RNA initiates construction of nuclear paraspeckles

(2012) Takao Naganuma et al.   EMBO JOURNAL

The RNA-binding protein Xp54nrb isolated from a Ca2+-dependent screen is expressed in neural structures during Xenopus laevis development

(2012) Isabelle Neant et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

Distinct Roles of DBHS Family Members in the Circadian Transcriptional Feedback Loop

(2012) E. Kowalska et al.   MOLECULAR AND CELLULAR BIOLOGY

NonO binds to the CpG island of oct4 promoter and functions as a transcriptional activator of oct4 gene expression

(2012) Yoojin Park et al.   MOLECULES AND CELLS

p54nrb is a new regulator of progression of malignant melanoma

(2011) S. Schiffner et al.   CARCINOGENESIS

Identification and functional analysis ofSOX10missense mutations in different subtypes of waardenburg syndrome

(2011) Asma Chaoui et al.   HUMAN MUTATION

Long non-coding RNAs in Huntington's disease neurodegeneration

(2011) Rory Johnson   NEUROBIOLOGY OF DISEASE

Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

(2010) Eileen Sproat Emison et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization

(2010) Tangui Le Guen et al.   HUMAN MUTATION

Review and update of mutations causing Waardenburg syndrome

(2010) Véronique Pingault et al.   HUMAN MUTATION

Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient

(2010) Avencia Sánchez-Mejías et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Sox proteins in melanocyte development and melanoma

(2010) Melissa L. Harris et al.   Pigment Cell & Melanoma Research

Nuclear Speckles

(2010) D. L. Spector et al.   Cold Spring Harbor Perspectives in Biology

Paraspeckles

(2010) A. H. Fox et al.   Cold Spring Harbor Perspectives in Biology

Aplasia of cochlear nerves and olfactory bulbs in association withSOX10mutation

(2009) C.P. Barnett et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Paraspeckles: nuclear bodies built on long noncoding RNA

(2009) Charles S. Bond et al.   JOURNAL OF CELL BIOLOGY

Altered Nuclear Retention of mRNAs Containing Inverted Repeats in Human Embryonic Stem Cells: Functional Role of a Nuclear Noncoding RNA

(2009) Ling-Ling Chen et al.   MOLECULAR CELL

Frequent mutations in the MITF pathway in melanoma

(2009) Julia C. Cronin et al.   Pigment Cell & Melanoma Research

A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

(2008) Matías Morín et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Paraspeckle protein p54nrb links Sox9-mediated transcription with RNA processing during chondrogenesis in mice

(2008) Kenji Hata et al.   JOURNAL OF CLINICAL INVESTIGATION