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

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

Review and update of mutations causing Waardenburg syndrome

(2010) Véronique Pingault et al.   HUMAN MUTATION

Heterozygous SOX9 Mutations Allowing for Residual DNA-binding and Transcriptional Activation Lead to the Acampomelic Variant of Campomelic Dysplasia

(2010) Alex Staffler 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

Orphan Nuclear Bodies

(2010) M. Carmo-Fonseca 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

Nuclear Bodies: Random Aggregates of Sticky Proteins or Crucibles of Macromolecular Assembly?

(2009) A. Gregory Matera et al.   DEVELOPMENTAL CELL

Shuttling of SOX proteins

(2009) Safia Malki et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

SOX–partner code for cell specification: Regulatory target selection and underlying molecular mechanisms

(2009) Hisato Kondoh et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Krox20 Controls the Transcription of Its Various Targets in the Developing Hindbrain According to Multiple Modes

(2009) Anne Desmazières et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Structure of Sox17 Bound to DNA Reveals a Conserved Bending Topology but Selective Protein Interaction Platforms

(2009) Paaventhan Palasingam et al.   JOURNAL OF MOLECULAR BIOLOGY

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

Having it both ways: Sox protein function between conservation and innovation

(2008) S. I. E. Guth et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Human SRY inhibits β-catenin-mediated transcription

(2008) Pascal Bernard et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

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

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

Boys, girls and shuttling of SRY and SOX9

(2008) Helena Sim et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM