Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development

Spatio-temporal expression of Sox genes in murine palatogenesis

(2016) Momoko Watanabe et al.   GENE EXPRESSION PATTERNS

Targeted resequencing identifiesPTCH1as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

(2016) Nicolas Chassaing et al.   GENOME RESEARCH

Transcription factors SOX4 and SOX9 cooperatively control development of bile ducts

(2015) Alexis Poncy et al.   DEVELOPMENTAL BIOLOGY

Identification of a novel MKS locus defined byTMEM107mutation

(2015) Ranad Shaheen et al.   HUMAN MOLECULAR GENETICS

TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome

(2015) Natalia A. Shylo et al.   HUMAN MUTATION

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

(2015) Nils J. Lambacher et al.   NATURE CELL BIOLOGY

The usefulness of whole-exome sequencing in routine clinical practice

(2014) Alejandro Iglesias et al.   GENETICS IN MEDICINE

A ciliopathy with hydrocephalus, isolated craniosynostosis, hypertelorism, and clefting caused by deletion of Kif3a

(2014) B. Liu et al.   REPRODUCTIVE TOXICOLOGY

Cleft Palate in a Mouse Model of SOX2 Haploinsufficiency

(2013) Lee Langer et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling

(2012) Kasey J. Christopher et al.   DEVELOPMENTAL BIOLOGY

Sox9 function in craniofacial development and disease

(2011) Young-Hoon Lee et al.   GENESIS

Fuz Regulates Craniofacial Development through Tissue Specific Responses to Signaling Factors

(2011) Zichao Zhang et al.   PLoS One

A systems-biology approach to understanding the ciliopathy disorders

(2011) Ji Eun Lee et al.   Genome Medicine

SOX9 Governs Differentiation Stage-Specific Gene Expression in Growth Plate Chondrocytes via Direct Concomitant Transactivation and Repression

(2011) Victor Y. L. Leung et al.   PLoS Genetics

The relationship between sonic Hedgehog signaling, cilia, and neural tube defects

(2010) Jennifer N. Murdoch et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

A primary cilia-dependent etiology for midline facial disorders

(2010) Samantha A. Brugmann et al.   HUMAN MOLECULAR GENETICS

A mouse knockout library for secreted and transmembrane proteins

(2010) Tracy Tang et al.   NATURE BIOTECHNOLOGY

Primary Cilia and Signaling Pathways in Mammalian Development, Health and Disease

(2009) Iben R. Veland et al.   NEPHRON PHYSIOLOGY

Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome

(2008) J. L. Tobin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA