Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

Skeletal Dysplasias Caused by Sulfation Defects

(2020) Chiara Paganini et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Ubiquitin links smoothened to intraflagellar transport to regulate Hedgehog signaling

(2020) Paurav B. Desai et al.   JOURNAL OF CELL BIOLOGY

Fibroblast growth factor receptor influences primary cilium length through an interaction with intestinal cell kinase

(2019) Michaela Kunova Bosakova et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Oct4-mediated reprogramming induces embryonic-like microRNA expression signatures in human fibroblasts

(2019) Lucie Peskova et al.   Scientific Reports

Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies

(2018) Michaela Kunova Bosakova et al.   HUMAN MOLECULAR GENETICS

G protein–coupled receptors control the sensitivity of cells to the morphogen Sonic Hedgehog

(2018) Ganesh V. Pusapati et al.   Science Signaling

G protein–coupled receptors control the sensitivity of cells to the morphogen Sonic Hedgehog

(2018) Ganesh V. Pusapati et al.   Science Signaling

Dishevelled enables casein kinase 1–mediated phosphorylation of Frizzled 6 required for cell membrane localization

(2018) Katerina Strakova et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies

(2017) Wenjuan Zhang et al.   HUMAN MUTATION

An essential role for Grk2 in Hedgehog signalling downstream of Smoothened

(2016) Zhonghua Zhao et al.   EMBO REPORTS

An inactivating mutation in intestinal cell kinase,ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome

(2016) S. Paige Taylor et al.   HUMAN MOLECULAR GENETICS

IFT52mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome

(2016) Wenjuan Zhang et al.   HUMAN MOLECULAR GENETICS

Smoothened determines β-arrestin–mediated removal of the G protein–coupled receptor Gpr161 from the primary cilium

(2016) Kasturi Pal et al.   JOURNAL OF CELL BIOLOGY

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

(2016) Michinori Toriyama et al.   NATURE GENETICS

Regulation of Smoothened Phosphorylation and High-Level Hedgehog Signaling Activity by a Plasma Membrane Associated Kinase

(2016) Shuangxi Li et al.   PLOS BIOLOGY

hMYH and hMTH1 cooperate for survival in mismatch repair defective T-cell acute lymphoblastic leukemia

(2016) S Eshtad et al.   Oncogenesis

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome

(2016) Ivan Duran et al.   Scientific Reports

miRNAsong: a web-based tool for generation and testing of miRNA sponge constructs in silico

(2016) Tomas Barta et al.   Scientific Reports

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

(2015) Caroline Alby et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

(2015) S. Paige Taylor et al.   Nature Communications

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

(2015) Miriam Schmidts et al.   Nature Communications

Effect of FGFR inhibitors on chicken limb development

(2014) Dana Horakova et al.   DEVELOPMENT GROWTH & DIFFERENTIATION

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

(2014) Ranad Shaheen et al.   HUMAN MOLECULAR GENETICS

Gli Protein Activity Is Controlled by Multisite Phosphorylation in Vertebrate Hedgehog Signaling

(2014) Pawel Niewiadomski et al.   Cell Reports

A Broadly Conserved G-Protein-Coupled Receptor Kinase Phosphorylation Mechanism Controls Drosophila Smoothened Activity

(2014) Dominic Maier et al.   PLoS Genetics

WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

(2013) Céline Huber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

(2013) Aideen M. McInerney-Leo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

(2013) Jan Halbritter et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Ciliary G-Protein-Coupled Receptor Gpr161 Negatively Regulates the Sonic Hedgehog Pathway via cAMP Signaling

(2013) Saikat Mukhopadhyay et al.   CELL

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport GeneIFT140in Skeletal Ciliopathies with Early Progressive Kidney Disease

(2013) Miriam Schmidts et al.   HUMAN MUTATION

WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

(2013) Christine M. Laine et al.   NEW ENGLAND JOURNAL OF MEDICINE

Paroxetine Is a Direct Inhibitor of G Protein-Coupled Receptor Kinase 2 and Increases Myocardial Contractility

(2012) David M. Thal et al.   ACS Chemical Biology

Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

(2012) Hane Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

(2012) Isabelle Perrault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cartilage-specific β-catenin signaling regulates chondrocyte maturation, generation of ossification centers, and perichondrial bone formation during skeletal development

(2012) Debbie Y Dao et al.   JOURNAL OF BONE AND MINERAL RESEARCH

GRK2: multiple roles beyond G protein-coupled receptor desensitization

(2012) Tama Evron et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

(2011) Christian Thiel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

(2011) Cecilie Bredrup et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Protein kinase A acts at the basal body of the primary cilium to prevent Gli2 activation and ventralization of the mouse neural tube

(2011) M. Tuson et al.   DEVELOPMENT

Growth Arrest Specific 8 (Gas8) and G Protein-coupled Receptor Kinase 2 (GRK2) Cooperate in the Control of Smoothened Signaling

(2011) Tama Evron et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

(2011) H. H. Arts et al.   JOURNAL OF MEDICAL GENETICS

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

G protein-coupled receptor kinases: More than just kinases and not only for GPCRs

(2011) Eugenia V. Gurevich et al.   PHARMACOLOGY & THERAPEUTICS

Sequential Phosphorylation of Smoothened Transduces Graded Hedgehog Signaling

(2011) Y. Su et al.   Science Signaling

Sonic Hedgehog Dependent Phosphorylation by CK1α and GRK2 Is Required for Ciliary Accumulation and Activation of Smoothened

(2011) Yongbin Chen et al.   PLOS BIOLOGY

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

(2010) Christian Gilissen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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 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

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

G protein-coupled receptor kinase 2 promotes high-level Hedgehog signaling by regulating the active state of Smo through kinase-dependent and kinase-independent mechanisms in Drosophila

(2010) Y. Chen et al.   GENES & DEVELOPMENT

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

Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling

(2010) Benedetta Gualeni et al.   MATRIX BIOLOGY

Kinetics of Hedgehog-Dependent Full-Length Gli3 Accumulation in Primary Cilia and Subsequent Degradation

(2010) X. Wen et al.   MOLECULAR AND CELLULAR BIOLOGY

Sulfation of chondroitin sulfate proteoglycans is necessary for proper Indian hedgehog signaling in the developing growth plate

(2009) M. Cortes et al.   DEVELOPMENT

G Protein-coupled Receptor Kinases Phosphorylate LRP6 in the Wnt Pathway

(2009) Minyong Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Inhibition of WNT Signaling by G Protein-Coupled Receptor (GPCR) Kinase 2 (GRK2)

(2009) Liming Wang et al.   MOLECULAR ENDOCRINOLOGY

The Wnt/β-Catenin Pathway Interacts Differentially with PTHrP Signaling to Control Chondrocyte Hypertrophy and Final Maturation

(2009) Xizhi Guo et al.   PLoS One

β-Arrestin links endothelin A receptor to β-catenin signaling to induce ovarian cancer cell invasion and metastasis

(2009) Laura Rosanò et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Establishing and Interpreting Graded Sonic Hedgehog Signaling during Vertebrate Neural Tube Patterning: The Role of Negative Feedback

(2009) V. Ribes et al.   Cold Spring Harbor Perspectives in Biology

Smoothened Signaling in Vertebrates Is Facilitated by a G Protein-coupled Receptor Kinase

(2008) Melanie Philipp et al.   MOLECULAR BIOLOGY OF THE CELL

LRP6 transduces a canonical Wnt signal independently of Axin degradation by inhibiting GSK3's phosphorylation of  -catenin

(2008) C. S. Cselenyi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

 -Arrestin-Mediated Localization of Smoothened to the Primary Cilium

(2008) J. J. Kovacs et al.   SCIENCE