NovelKIF7missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome

The kinesin-4 protein Kif7 regulates mammalian Hedgehog signalling by organizing the cilium tip compartment

(2014) Mu He et al.   NATURE CELL BIOLOGY

Kif7 keeps cilia tips in shape

(2014) Lotte B. Pedersen et al.   NATURE CELL BIOLOGY

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

A de novoGLI3mutation in a patient with acrocallosal syndrome

(2013) Leonie Speksnijder et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Kif7 is required for the patterning and differentiation of the diaphragm in a model of syndromic congenital diaphragmatic hernia

(2013) G. L. Coles et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Positive and Negative Regulation of Gli Activity by Kif7 in the Zebrafish Embryo

(2013) Ashish Kumar Maurya et al.   PLoS Genetics

Structural insights into human Kif7, a kinesin involved in Hedgehog signalling

(2012) Marta Klejnot et al.   ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY

Acrocallosal syndrome: Identification of a novel KIF7 mutation and evidence for oligogenic inheritance

(2012) Diana M. Walsh et al.   European Journal of Medical Genetics

NovelKIF7mutations extend the phenotypic spectrum of acrocallosal syndrome

(2012) Audrey Putoux et al.   JOURNAL OF MEDICAL GENETICS

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

(2012) Bassam R Ali et al.   Orphanet Journal of Rare Diseases

Antagonistic and Cooperative Actions of Kif7 and Sufu Define Graded Intracellular Gli Activities in Hedgehog Signaling

(2012) Kelvin King Lo Law et al.   PLoS One

Kif7 promotes hedgehog signaling in growth plate chondrocytes by restricting the inhibitory function of Sufu

(2011) S.-H. C. Hsu et al.   DEVELOPMENT

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

(2011) Claudia Dafinger et al.   JOURNAL OF CLINICAL INVESTIGATION

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

(2011) Audrey Putoux et al.   NATURE GENETICS

The Mammalian Cos2 Homolog Kif7 Plays an Essential Role in Modulating Hh Signal Transduction during Development

(2009) Setsu Endoh-Yamagami et al.   CURRENT BIOLOGY

Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling

(2009) K. F. Liem et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Kinesin Protein Kif7 Is a Critical Regulator of Gli Transcription Factors in Mammalian Hedgehog Signaling

(2009) H. O.-L. Cheung et al.   Science Signaling