GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis–van Creveld syndrome

Hedgehog signalling

(2016) Raymond Teck Ho Lee et al.   DEVELOPMENT

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

(2016) Dennis Lal et al.   PLoS One

Morphogen rules: design principles of gradient-mediated embryo patterning

(2015) J. Briscoe et al.   DEVELOPMENT

FGF signaling enhances a sonic hedgehog negative feedback loop at the initiation of spinal cord ventral patterning

(2015) Aixa V. Morales et al.   Developmental Neurobiology

Generation ofEvc2/Limbinglobal and conditional KO mice and its roles during mineralized tissue formation

(2015) Honghao Zhang et al.   GENESIS

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

(2015) José A. Caparrós-Martín et al.   HUMAN MOLECULAR GENETICS

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

SOX9 inhibits  -TrCP-mediated protein degradation to promote nuclear GLI1 expression and cancer stem cell properties

(2015) W. Deng et al.   JOURNAL OF CELL SCIENCE

Role of GLI2 in hypopituitarism phenotype

(2015) I. J. P. Arnhold et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex

(2014) Michael Volodarsky et al.   BMC Medical Genetics

Roles for Hedgehog signaling in adult organ homeostasis and repair

(2014) R. Petrova et al.   DEVELOPMENT

Gli1 Haploinsufficiency Leads to Decreased Bone Mass with an Uncoupling of Bone Metabolism in Adult Mice

(2014) Yoshiaki Kitaura et al.   PLoS One

Context-dependent signal integration by the GLI code: The oncogenic load, pathways, modifiers and implications for cancer therapy

(2014) Fritz Aberger et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Functional Characterization of a Heterozygous GLI2 Missense Mutation in Patients With Multiple Pituitary Hormone Deficiency

(2013) G. M. C. Flemming et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Ciliary disorder of the skeleton

(2012) Celine Huber et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Smoothened transduces Hedgehog signal by forming a complex with Evc/Evc2

(2012) Cuiping Yang et al.   CELL RESEARCH

Mechanistic Differences in the Transcriptional Interpretation of Local and Long-Range Shh Morphogen Signaling

(2012) Tony Oosterveen et al.   DEVELOPMENTAL CELL

A Smoothened-Evc2 Complex Transduces the Hedgehog Signal at Primary Cilia

(2012) Karolin V. Dorn et al.   DEVELOPMENTAL CELL

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis

(2012) Maria Cecilia D'Asdia et al.   European Journal of Medical Genetics

Neural-specific Sox2 input and differential Gli-binding affinity provide context and positional information in Shh-directed neural patterning

(2012) K. A. Peterson et al.   GENES & DEVELOPMENT

The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia

(2012) Jose A. Caparrós-Martín et al.   HUMAN MOLECULAR GENETICS

Gli Proteins in Development and Disease

(2011) Chi-chung Hui et al.   Annual Review of Cell and Developmental Biology

Polydactyly: How many disorders and how many genes? 2010 update

(2011) Leslie G. Biesecker   DEVELOPMENTAL DYNAMICS

Clinical findings in patients with GLI2 mutations - phenotypic variability

(2010) CDP Bertolacini et al.   CLINICAL GENETICS

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

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A mechanism for vertebrate Hedgehog signaling: recruitment to cilia and dissociation of SuFu–Gli protein complexes

(2010) Hanna Tukachinsky et al.   JOURNAL OF CELL BIOLOGY

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

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

(2009) Daniel C. Koboldt et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Widening the mutation spectrum ofEVCandEVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling

(2009) Maria Valencia et al.   HUMAN MUTATION

A novel missense mutation in theEVCgene underlies Ellis-van Creveld syndrome in a Pakistani family

(2009) Umm-e-Kalsoom et al.   PEDIATRICS INTERNATIONAL

Small-molecule inhibitors reveal multiple strategies for Hedgehog pathway blockade

(2009) J. M. Hyman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVCgene

(2008) Hakan Ulucan et al.   BMC Medical Genetics