Discovery, Diagnosis, and Etiology of Craniofacial Ciliopathies

Primary cilia are critical for Sonic hedgehog-mediated dopaminergic neurogenesis in the embryonic midbrain

(2016) Mary Gazea et al.   DEVELOPMENTAL BIOLOGY

A Shh-Foxf-Fgf18-Shh Molecular Circuit Regulating Palate Development

(2016) Jingyue Xu et al.   PLoS Genetics

Signals from the brain induce variation in avian facial shape

(2015) Diane Hu et al.   DEVELOPMENTAL DYNAMICS

Sonic hedgehog from pharyngeal arch 1 epithelium is necessary for early mandibular arch cell survival and later cartilage condensation differentiation

(2015) Katherine Kretovich Billmyre et al.   DEVELOPMENTAL DYNAMICS

Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome

(2015) E. N. Schock et al.   Disease Models & Mechanisms

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway

(2015) Z. A. Abdelhamed et al.   Disease Models & Mechanisms

The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor

(2015) Christine Laclef et al.   HUMAN MOLECULAR GENETICS

The suture provides a niche for mesenchymal stem cells of craniofacial bones

(2015) Hu Zhao et al.   NATURE CELL BIOLOGY

The cellular and molecular etiology of the craniofacial defects in the avian ciliopathic mutant talpid2

(2014) C.-F. Chang et al.   DEVELOPMENT

The buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signaling

(2013) Roman H Khonsari et al.   BMC BIOLOGY

Fuz Mutant Mice Reveal Shared Mechanisms between Ciliopathies and FGF-Related Syndromes

(2013) Jacqueline M. Tabler et al.   DEVELOPMENTAL CELL

Signals and Switches in Mammalian Neural Crest Cell Differentiation

(2013) S. Bhatt et al.   Cold Spring Harbor Perspectives in Biology

A Critical Role for PDGFRα Signaling in Medial Nasal Process Development

(2013) Fenglei He et al.   PLoS Genetics

Context-Dependent Regulation of Wnt Signaling through the Primary Cilium

(2012) E. C. Oh et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Primary cilia control telencephalic patterning and morphogenesis via Gli3 proteolytic processing

(2011) L. Besse et al.   DEVELOPMENT

A Conserved Pbx-Wnt-p63-Irf6 Regulatory Module Controls Face Morphogenesis by Promoting Epithelial Apoptosis

(2011) Elisabetta Ferretti et al.   DEVELOPMENTAL CELL

Signaling by SHH rescues facial defects following blockade in the brain

(2011) H. Jonathan Chong et al.   DEVELOPMENTAL DYNAMICS

Inversin, Wnt signaling and primary cilia

(2011) Soeren Lienkamp et al.   DIFFERENTIATION

Strange as it may seem: the many links between Wnt signaling, planar cell polarity, and cilia

(2011) J. B. Wallingford et al.   GENES & DEVELOPMENT

The emerging face of primary cilia

(2011) Norann A. Zaghloul et al.   GENESIS

Primary Cilia Regulate Branching Morphogenesis during Mammary Gland Development

(2010) Kimberly M. McDermott et al.   CURRENT BIOLOGY

Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left–right asymmetry in zebrafish

(2010) Helen L. May-Simera et al.   DEVELOPMENTAL BIOLOGY

Ectodermal WNT/β-catenin signaling shapes the mouse face

(2010) Bethany S. Reid et al.   DEVELOPMENTAL BIOLOGY

A primary cilia-dependent etiology for midline facial disorders

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

Novel Heterozygous NonsenseGLI2Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly

(2010) Marcela M. França et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The primary cilium: a signalling centre during vertebrate development

(2010) Sarah C. Goetz et al.   NATURE REVIEWS GENETICS

Making sense of cilia in disease: The human ciliopathies

(2009) Kate Baker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Primary cilia regulate Shh activity in the control of molar tooth number

(2009) A. Ohazama et al.   DEVELOPMENT

Dampened Hedgehog signaling but normal Wnt signaling in zebrafish without cilia

(2009) P. Huang et al.   DEVELOPMENT

Lrp6-mediated canonical Wnt signaling is required for lip formation and fusion

(2009) L. Song et al.   DEVELOPMENT

Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain

(2009) R.W. Stottmann et al.   DEVELOPMENTAL BIOLOGY

Expression of WNT signalling pathway genes during chicken craniofacial development

(2009) Poongodi Geetha-Loganathan et al.   DEVELOPMENTAL DYNAMICS

Primary Cilia Are Not Required for Normal Canonical Wnt Signaling in the Mouse Embryo

(2009) Polloneal Jymmiel R. Ocbina et al.   PLoS One

C2cd3 is required for cilia formation and Hedgehog signaling in mouse

(2008) A. N. Hoover et al.   DEVELOPMENT

A SHH-responsive signaling center in the forebrain regulates craniofacial morphogenesis via the facial ectoderm

(2008) D. Hu et al.   DEVELOPMENT

FGF signals from the nasal pit are necessary for normal facial morphogenesis

(2008) Heather L. Szabo-Rogers et al.   DEVELOPMENTAL BIOLOGY

Unique organization of the frontonasal ectodermal zone in birds and mammals

(2008) Diane Hu et al.   DEVELOPMENTAL BIOLOGY

Intraflagellar transport protein 172 is essential for primary cilia formation and plays a vital role in patterning the mammalian brain

(2008) Marat Gorivodsky et al.   DEVELOPMENTAL BIOLOGY

Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate

(2008) Brett T. Chiquet et al.   HUMAN MOLECULAR GENETICS

A Crucial Role for Primary Cilia in Cortical Morphogenesis

(2008) M. A. Willaredt et al.   JOURNAL OF NEUROSCIENCE

THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia

(2008) Pamela V Tran et al.   NATURE GENETICS

Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells

(2008) Young-Goo Han et al.   NATURE NEUROSCIENCE

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

Primary cilia regulate hippocampal neurogenesis by mediating sonic hedgehog signaling

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