Ciliary disorder of the skeleton (Q38026010)

27 August 2017

Ciliary disorder of the skeleton (English)

1 reference

27 August 2017

Celine Huber

1

0 references

Valérie Cormier-Daire

object named as

Valerie Cormier-Daire

series ordinal

2

0 references

publication date

12 July 2012

1 reference

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

27 August 2017

1 reference

27 August 2017

160C

1 reference

27 August 2017

3

1 reference

27 August 2017

165-174

1 reference

Ocular Findings in Thoracic-Pelvic-Phalangeal Dystrophy

27 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

The Ciliopathies: An Emerging Class of Human Genetic Disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Retinal Involvement in Thoracic-Pelvic-Phalangeal Dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

A new short rib syndrome: report of two cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

The roles of cilia in developmental disorders and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Short rib-polydactyly syndrome, Majewski type

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

New findings in short rib syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

The intraflagellar transport machinery of Chlamydomonas reinhardtii

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

SnapShot: Intraflagellar transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Vertebrate Smoothened functions at the primary cilium

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

The dynamic cilium in human diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

An incredible decade for the primary cilium: a look at a once-forgotten organelle

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Microtubule polymerization dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Diagnostic dilemmas in the short rib-polydactyly syndrome group.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

The primary cilium: a signalling centre during vertebrate development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Intraflagellar transport is essential for endochondral bone formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Short rib syndrome--Beemer type in sibs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Evidence of Oligogenic Inheritance in Nephronophthisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Cilia and Hedgehog responsiveness in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Retrograde intraflagellar transport mutants identify complex A proteins with multiple genetic interactions in Chlamydomonas reinhardtii

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Polysyndactyly, short limbs, and genital malformations--a new syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Short rib-polydactyly syndrome type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Modeling human disease in humans: the ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Complex interactions between genes controlling trafficking in primary cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Chlamydomonas shortens its flagella by activating axonemal disassembly, stimulating IFT particle trafficking, and blocking anterograde cargo loading

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Distinct mutants of retrograde intraflagellar transport (IFT) share similar morphological and molecular defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

The differential distribution of acetylated and detyrosinated alpha-tubulin in the microtubular cytoskeleton and primary cilia of hyaline cartilage chondrocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Patched1 regulates hedgehog signaling at the primary cilium

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Overview of structure and function of mammalian cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

The mammalian Nek1 kinase is involved in primary cilium formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Development of the post-natal growth plate requires intraflagellar transport proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Architecture and function of IFT complex proteins in ciliogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

NEK1 mutations cause short-rib polydactyly syndrome type majewski

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Nosology and classification of genetic skeletal disorders: 2010 revision.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Kinetics of hedgehog-dependent full-length Gli3 accumulation in primary cilia and subsequent degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

The NIMA-family kinase, Nek1 affects the stability of centrosomes and ciliogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Cilia of adult canine articular chondrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Retinal dystrophy in Jeune's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Dynein cleavage and microtubule accumulation in okadaic acid-treated neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Functional modules, mutational load and human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

Flagellum elongation is required for correct structure, orientation and function of the flagellar pocket in Trypanosoma brucei

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31336

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31336

1 reference

27 August 2017

1 reference

PubMed ID

22791528