- Home
- Publications
- Publication Search
- Publication Details
Title
Ciliary disorder of the skeleton
Authors
Keywords
-
Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 160C, Issue 3, Pages 165-174
Publisher
Wiley
Online
2012-07-14
DOI
10.1002/ajmg.c.31336
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- NEK1andDYNC2H1are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases
- (2012) Joyce El Hokayem et al. JOURNAL OF MEDICAL GENETICS
- Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis
- (2011) Pleasantine Mill et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- Nosology and classification of genetic skeletal disorders: 2010 revision
- (2011) Matthew L. Warman et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus
- (2011) Helen J Blair et al. BMC BIOLOGY
- Modeling Human Disease in Humans: The Ciliopathies
- (2011) Gaia Novarino et al. CELL
- Architecture and function of IFT complex proteins in ciliogenesis
- (2011) Michael Taschner et al. DIFFERENTIATION
- An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia
- (2011) Suzanne Rix et al. HUMAN MOLECULAR GENETICS
- 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
- Complex interactions between genes controlling trafficking in primary cilia
- (2011) Polloneal Jymmiel R Ocbina et al. NATURE GENETICS
- Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components
- (2011) J. Qin et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- 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
- Weyers acrodental dysostosis in a family
- (2010) Martin Roubicek et al. CLINICAL GENETICS
- Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals
- (2010) Sabine Janssen et al. HUMAN GENETICS
- The Intraflagellar Transport Protein Ift80 Is Essential for Photoreceptor Survival in a Zebrafish Model of Jeune Asphyxiating Thoracic Dystrophy
- (2010) L. M. Hudak et al. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
- Kinetics of Hedgehog-Dependent Full-Length Gli3 Accumulation in Primary Cilia and Subsequent Degradation
- (2010) X. Wen et al. MOLECULAR AND CELLULAR BIOLOGY
- 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
- Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome
- (2009) Amy E. Merrill et al. AMERICAN JOURNAL OF HUMAN GENETICS
- DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III
- (2009) Nathalie Dagoneau et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Connective tissue involvement in two patients with features of cranioectodermal dysplasia
- (2009) Andrew E. Fry et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands
- (2009) Victor L. Ruiz-Perez et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- The NIMA-related kinase NEK1 cycles through the nucleus
- (2009) Laura K. Hilton et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- SnapShot: Intraflagellar Transport
- (2009) Douglas G. Cole et al. CELL
- Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain
- (2009) R.W. Stottmann et al. DEVELOPMENTAL BIOLOGY
- Retrograde Intraflagellar Transport Mutants Identify Complex A Proteins With Multiple Genetic Interactions in Chlamydomonas reinhardtii
- (2009) C. Iomini et al. GENETICS
- Widening the mutation spectrum ofEVCandEVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling
- (2009) Maria Valencia et al. HUMAN MUTATION
- Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum
- (2009) D. P. Cavalcanti et al. JOURNAL OF MEDICAL GENETICS
- The NIMA-family kinase, Nek1 affects the stability of centrosomes and ciliogenesis
- (2008) Mark C White et al. BMC CELL 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
- Primary cilia in osteoarthritic chondrocytes: From chondrons to clusters
- (2008) S.R. McGlashan et al. DEVELOPMENTAL DYNAMICS
- The mammalian Nek1 kinase is involved in primary cilium formation
- (2008) Ohad Shalom et al. FEBS LETTERS
- Flagellum elongation is required for correct structure, orientation and function of the flagellar pocket in Trypanosoma brucei
- (2008) S. Absalon et al. JOURNAL OF CELL SCIENCE
- THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia
- (2008) Pamela V Tran et al. NATURE GENETICS
- Dynein cleavage and microtubule accumulation in okadaic acid-treated neurons
- (2008) Seung Yong Yoon et al. NEUROSCIENCE LETTERS
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started