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

Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model

(2013) Maria M. Alves et al.   DEVELOPMENTAL BIOLOGY

The role of SOX10 during enteric nervous system development

(2013) Nadege Bondurand et al.   DEVELOPMENTAL BIOLOGY

Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients

(2013) Berta Luzón-Toro et al.   PLoS One

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4

(2012) Nadége Bondurand et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Development and developmental disorders of the enteric nervous system

(2012) Florian Obermayr et al.   Nature Reviews Gastroenterology & Hepatology

Comprehensive Analysis of NRG1 Common and Rare Variants in Hirschsprung Patients

(2012) Berta Luzón-Toro et al.   PLoS One

Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2

(2012) Viviane Baral et al.   PLoS One

Genomically integrated transgenes are stably and conditionally expressed in neural crest cell-specific lineages

(2011) Yasuhiro Yokota et al.   DEVELOPMENTAL BIOLOGY

Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung’s disease

(2011) Macarena Ruiz-Ferrer et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Transcription factor Sox10 orchestrates activity of a neural crest-specific enhancer in the vicinity of its gene

(2011) M. Wahlbuhl et al.   NUCLEIC ACIDS RESEARCH

Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCR

(2011) Macarena Ruiz-Ferrer et al.   PLoS One

Disruption of long-distance highly conserved noncoding elements in neurocristopathies

(2010) Jeanne Amiel et al.   Annals of the New York Academy of Sciences

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

Genomic code for Sox10 activation reveals a key regulatory enhancer for cranial neural crest

(2010) Paola Betancur et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of Neural Crest and Glial Enhancers at the Mouse Sox10 Locus through Transgenesis in Zebrafish

(2008) Anthony Antonellis et al.   PLoS Genetics