The emerging face of primary cilia

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

(2010) Joanna Walczak-Sztulpa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Conserved Bardet-Biedl Syndrome Proteins Assemble a Coat that Traffics Membrane Proteins to Cilia

(2010) Hua Jin et al.   CELL

Directional Cell Migration and Chemotaxis in Wound Healing Response to PDGF-AA are Coordinated by the Primary Cilium in Fibroblasts

(2010) Linda Schneider et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Quantitative analyses link modulation of sonic hedgehog signaling to continuous variation in facial growth and shape

(2010) N. M. Young et al.   DEVELOPMENT

The output of Hedgehog signaling is controlled by the dynamic association between Suppressor of Fused and the Gli proteins

(2010) E. W. Humke et al.   GENES & DEVELOPMENT

A primary cilia-dependent etiology for midline facial disorders

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

The primary cilium: a signalling centre during vertebrate development

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

Functional modules, mutational load and human genetic disease

(2010) Norann A. Zaghloul et al.   TRENDS IN GENETICS

Cranioectodermal dysplasia: A probable ciliopathy

(2009) Anastasia E. Konstantinidou et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

The Vertebrate Primary Cilium in Development, Homeostasis, and Disease

(2009) Jantje M. Gerdes et al.   CELL

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

Zebrafishift57,ift88, andift172intraflagellar transport mutants disrupt cilia but do not affect hedgehog signaling

(2009) Shannon C. Lunt et al.   DEVELOPMENTAL DYNAMICS

Expression of WNT signalling pathway genes during chicken craniofacial development

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

A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling

(2009) Scott D. Weatherbee et al.   HUMAN MOLECULAR GENETICS

FGF signalling during embryo development regulates cilia length in diverse epithelia

(2009) Judith M. Neugebauer et al.   NATURE

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

(2009) Hemant Khanna et al.   NATURE GENETICS

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

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

The clinical atlas of Greig cephalopolysyndactyly syndrome

(2008) Katherine Balk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Essential role for PDGF signaling in ophthalmic trigeminal placode induction

(2008) K. L. McCabe 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

Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4

(2008) Salvatore Cortellino et al.   DEVELOPMENTAL BIOLOGY

Convergent extension movements and ciliary function are mediated by ofd1 , a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene

(2008) Maria I. Ferrante et al.   HUMAN MOLECULAR GENETICS

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

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

(2008) Joon Kim et al.   HUMAN MOLECULAR GENETICS

Identification of Ciliary Localization Sequences within the Third Intracellular Loop of G Protein-coupled Receptors

(2008) Nicolas F. Berbari et al.   MOLECULAR BIOLOGY OF THE CELL

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

(2008) Pamela V Tran et al.   NATURE GENETICS

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