Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development
出版年份 2013 全文链接
标题
Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development
作者
关键词
-
出版物
Organogenesis
Volume 10, Issue 1, Pages 96-107
出版商
Informa UK Limited
发表日期
2013-12-10
DOI
10.4161/org.27375
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- The Cilium Secretes Bioactive Ectosomes
- (2013) Christopher R. Wood et al. CURRENT BIOLOGY
- Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel–Gruber syndrome
- (2013) Gabrielle Wheway et al. DEVELOPMENTAL BIOLOGY
- The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity
- (2013) Amanda C. Leightner et al. HUMAN MOLECULAR GENETICS
- Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects
- (2013) Zakia A. Abdelhamed et al. HUMAN MOLECULAR GENETICS
- Mutations inTMEM231cause Meckel–Gruber syndrome
- (2013) Ranad Shaheen et al. JOURNAL OF MEDICAL GENETICS
- Shaping Our Minds: Stem and Progenitor Cell Diversity in the Mammalian Neocortex
- (2013) Santos J. Franco et al. NEURON
- Signaling mechanisms regulating adult neural stem cells and neurogenesis
- (2012) Roland Faigle et al. BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
- CDK inhibitors R-roscovitine and S-CR8 effectively block renal and hepatic cystogenesis in an orthologous model of ADPKD
- (2012) Nikolay O. Bukanov et al. CELL CYCLE
- Arl13b in Primary Cilia Regulates the Migration and Placement of Interneurons in the Developing Cerebral Cortex
- (2012) Holden Higginbotham et al. DEVELOPMENTAL CELL
- A truncating mutation of Alms1 reduces the number of hypothalamic neuronal cilia in obese mice
- (2012) Déborah Heydet et al. Developmental Neurobiology
- Mouse models of ciliopathies: the state of the art
- (2012) D. P. Norris et al. Disease Models & Mechanisms
- Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes
- (2012) Ranad Shaheen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity
- (2012) Alexia Mahuzier et al. JOURNAL OF CELL BIOLOGY
- Scoring a backstage pass: Mechanisms of ciliogenesis and ciliary access
- (2012) Francesc R. Garcia-Gonzalo et al. JOURNAL OF CELL BIOLOGY
- The future of ciliary and flagellar membrane research
- (2012) Robert A. Bloodgood MOLECULAR BIOLOGY OF THE CELL
- A size-exclusion permeability barrier and nucleoporins characterize a ciliary pore complex that regulates transport into cilia
- (2012) Hooi Lynn Kee et al. NATURE CELL BIOLOGY
- A role for primary cilia in glutamatergic synaptic integration of adult-born neurons
- (2012) Natsuko Kumamoto et al. NATURE NEUROSCIENCE
- Tangentially Migrating Neurons Assemble a Primary Cilium that Promotes Their Reorientation to the Cortical Plate
- (2012) Jean-Pierre Baudoin et al. NEURON
- The Tangled Web of Non-Canonical Wnt Signalling in Neural Migration
- (2012) Charlotte E.J. Clark et al. NEUROSIGNALS
- The role of primary cilia in the pathophysiology of neural tube defects
- (2012) Timothy W. Vogel et al. Neurosurgical Focus
- Wnt/Ca2+ signaling pathway: a brief overview
- (2011) Antara De ACTA BIOCHIMICA ET BIOPHYSICA SINICA
- Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome
- (2011) William E. Dowdle et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Putative roles of cilia in polycystic kidney disease
- (2011) Paul Winyard et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- A Role for the Primary Cilium in Notch Signaling and Epidermal Differentiation during Skin Development
- (2011) Ellen J. Ezratty et al. CELL
- Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
- (2011) Liyun Sang et al. CELL
- Primary cilia control telencephalic patterning and morphogenesis via Gli3 proteolytic processing
- (2011) L. Besse et al. DEVELOPMENT
- Basolateral rather than apical primary cilia on neuroepithelial cells committed to delamination
- (2011) M. Wilsch-Brauninger et al. DEVELOPMENT
- Calcium/NFAT signalling promotes early nephrogenesis
- (2011) S.F. Burn et al. DEVELOPMENTAL BIOLOGY
- PCP effector proteins inturned and fuzzy play nonredundant roles in the patterning but not convergent extension of mammalian neural tube
- (2011) Westley Heydeck et al. DEVELOPMENTAL DYNAMICS
- Planar polarity of ependymal cilia
- (2011) Norihito Kishimoto et al. DIFFERENTIATION
- Cilia and Hedgehog: When and how was their marriage solemnized?
- (2011) Sudipto Roy DIFFERENTIATION
- Hedgehog trafficking, cilia and brain functions
- (2011) Martial Ruat et al. DIFFERENTIATION
- Strange as it may seem: the many links between Wnt signaling, planar cell polarity, and cilia
- (2011) J. B. Wallingford et al. GENES & DEVELOPMENT
- A meckelin–filamin A interaction mediates ciliogenesis
- (2011) Matthew Adams et al. HUMAN MOLECULAR GENETICS
- B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis
- (2011) Katharina Hopp et al. HUMAN MOLECULAR GENETICS
- The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking
- (2011) Ruxandra Bachmann-Gagescu et al. HUMAN MOLECULAR GENETICS
- A TCTN2 mutation defines a novel Meckel Gruber syndrome locus
- (2011) Ranad Shaheen et al. HUMAN MUTATION
- A hierarchy of signals regulates entry of membrane proteins into the ciliary membrane domain in epithelial cells
- (2011) Stephen S. Francis et al. JOURNAL OF CELL BIOLOGY
- MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis
- (2011) Corey L. Williams et al. JOURNAL OF CELL BIOLOGY
- Localization of retinitis pigmentosa 2 to cilia is regulated by Importin 2
- (2011) T. W. Hurd et al. JOURNAL OF CELL SCIENCE
- Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease
- (2011) Guy Keryer et al. JOURNAL OF CLINICAL INVESTIGATION
- Development and distribution of neuronal cilia in mouse neocortex
- (2011) Jon I. Arellano et al. JOURNAL OF COMPARATIVE NEUROLOGY
- Primary Cilia Regulate Proliferation of Amplifying Progenitors in Adult Hippocampus: Implications for Learning and Memory
- (2011) A. Amador-Arjona et al. JOURNAL OF NEUROSCIENCE
- The canonical Wnt signaling pathway is not involved in renal cyst development in the kidneys of inv mutant mice
- (2011) Noriyuki Sugiyama et al. KIDNEY INTERNATIONAL
- A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain
- (2011) Ben Chih et al. NATURE CELL BIOLOGY
- Subcellular spatial regulation of canonical Wnt signalling at the primary cilium
- (2011) Madeline A. Lancaster et al. NATURE CELL BIOLOGY
- TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
- (2011) Erica E Davis et al. NATURE GENETICS
- A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
- (2011) Francesc R Garcia-Gonzalo et al. NATURE GENETICS
- Ciliogenesis: building the cell's antenna
- (2011) Hiroaki Ishikawa et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Cilia in the CNS: The Quiet Organelle Claims Center Stage
- (2011) Angeliki Louvi et al. NEURON
- Neural Stem Cells: Historical Perspective and Future Prospects
- (2011) Joshua J. Breunig et al. NEURON
- Ciliopathies: an expanding disease spectrum
- (2011) Aoife M. Waters et al. PEDIATRIC NEPHROLOGY
- Renal Cystic Disease Proteins Play Critical Roles in the Organization of the Olfactory Epithelium
- (2011) Jennifer L. Pluznick et al. PLoS One
- 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
- An Updated Overview on Wnt Signaling Pathways
- (2010) Tata Purushothama Rao et al. CIRCULATION RESEARCH
- Prospects for mTOR Inhibitor Use in Patients with Polycystic Kidney Disease and Hamartomatous Diseases
- (2010) V. E. Torres et al. Clinical Journal of the American Society of Nephrology
- Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome
- (2010) C. Cui et al. Disease Models & Mechanisms
- 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
- Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway
- (2010) Alessandro Zullo et al. HUMAN MOLECULAR GENETICS
- CEP290, a gene with many faces: mutation overview and presentation of CEP290base
- (2010) Frauke Coppieters et al. HUMAN MUTATION
- 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
- The cell biology of polycystic kidney disease
- (2010) Hannah C. Chapin et al. JOURNAL OF CELL BIOLOGY
- Sensory reception is an attribute of both primary cilia and motile cilia
- (2010) R. A. Bloodgood JOURNAL OF CELL SCIENCE
- Normal Ciliogenesis Requires Synergy between the Cystic Kidney Disease Genes MKS-3 and NPHP-4
- (2010) C. L. Williams et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Intraflagellar Transport Proteins Are Essential for Cilia Formation and for Planar Cell Polarity
- (2010) Y. Cao et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Aberrant Regulation of Planar Cell Polarity in Polycystic Kidney Disease
- (2010) A. Luyten et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Molecular Genetics and Pathogenic Mechanisms for the Severe Ciliopathies: Insights into Neurodevelopment and Pathogenesis of Neural Tube Defects
- (2010) Clare V. Logan et al. MOLECULAR NEUROBIOLOGY
- Ciliary entry of the kinesin-2 motor KIF17 is regulated by importin-β2 and RanGTP
- (2010) John F. Dishinger et al. NATURE CELL BIOLOGY
- Primary cilia regulate mTORC1 activity and cell size through Lkb1
- (2010) Christopher Boehlke et al. NATURE CELL BIOLOGY
- Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
- (2010) Enza Maria Valente et al. NATURE GENETICS
- The primary cilium: a signalling centre during vertebrate development
- (2010) Sarah C. Goetz et al. NATURE REVIEWS GENETICS
- Sirolimus and Kidney Growth in Autosomal Dominant Polycystic Kidney Disease
- (2010) Andreas L. Serra et al. NEW ENGLAND JOURNAL OF MEDICINE
- Everolimus in Patients with Autosomal Dominant Polycystic Kidney Disease
- (2010) Gerd Walz et al. NEW ENGLAND JOURNAL OF MEDICINE
- Nephronophthisis
- (2010) Matthias T. F. Wolf et al. PEDIATRIC NEPHROLOGY
- Carboxy Terminal Tail of Polycystin-1 Regulates Localization of TSC2 to Repress mTOR
- (2010) Ruhee Dere et al. PLoS One
- Coordinated Translocation of Mammalian Gli Proteins and Suppressor of Fused to the Primary Cilium
- (2010) Huiqing Zeng et al. PLoS One
- A Septin Diffusion Barrier at the Base of the Primary Cilium Maintains Ciliary Membrane Protein Distribution
- (2010) Q. Hu et al. SCIENCE
- Ependymal cells: biology and pathology
- (2009) Marc R. Del Bigio ACTA NEUROPATHOLOGICA
- The Mammalian Cos2 Homolog Kif7 Plays an Essential Role in Modulating Hh Signal Transduction during Development
- (2009) Setsu Endoh-Yamagami et al. CURRENT BIOLOGY
- Towards an integrated view of Wnt signaling in development
- (2009) R. van Amerongen et al. DEVELOPMENT
- Suppressor of Fused inhibits mammalian Hedgehog signaling in the absence of cilia
- (2009) Jinping Jia et al. DEVELOPMENTAL BIOLOGY
- Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain
- (2009) R.W. Stottmann et al. DEVELOPMENTAL BIOLOGY
- Planar cell polarity effector geneFuzzyregulates cilia formation and Hedgehog signal transduction in mouse
- (2009) Westley Heydeck et al. DEVELOPMENTAL DYNAMICS
- Cilium-independent regulation of Gli protein function by Sufu in Hedgehog signaling is evolutionarily conserved
- (2009) M.-H. Chen et al. GENES & DEVELOPMENT
- A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling
- (2009) Scott D. Weatherbee et al. HUMAN MOLECULAR GENETICS
- Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3
- (2009) Rachaneekorn Tammachote et al. HUMAN MOLECULAR GENETICS
- Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling
- (2009) Seongjin Seo et al. HUMAN MOLECULAR GENETICS
- Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis
- (2009) Cleo S. Bonnet et al. HUMAN MOLECULAR GENETICS
- Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins
- (2009) N. J. Bialas et al. JOURNAL OF CELL SCIENCE
- Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton
- (2009) H. R. Dawe et al. JOURNAL OF CELL SCIENCE
- A Mouse Model for Meckel Syndrome Type 3
- (2009) S. A. Cook et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Loss of Oriented Cell Division Does not Initiate Cyst Formation
- (2009) S. Nishio et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Autosomal dominant polycystic kidney disease: the last 3 years
- (2009) Vicente E. Torres et al. KIDNEY INTERNATIONAL
- Polycystin-1 Regulates Extracellular Signal-Regulated Kinase-Dependent Phosphorylation of Tuberin To Control Cell Size through mTOR and Its Downstream Effectors S6K and 4EBP1
- (2009) G. Distefano et al. MOLECULAR AND CELLULAR BIOLOGY
- Intraflagellar transport is required for polarized recycling of the TCR/CD3 complex to the immune synapse
- (2009) Francesca Finetti et al. NATURE CELL BIOLOGY
- A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
- (2009) Hemant Khanna et al. NATURE GENETICS
- Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy
- (2009) Madeline A Lancaster et al. NATURE MEDICINE
- Dual and opposing roles of primary cilia in medulloblastoma development
- (2009) Young-Goo Han et al. NATURE MEDICINE
- Primary cilia can both mediate and suppress Hedgehog pathway–dependent tumorigenesis
- (2009) Sunny Y Wong et al. NATURE MEDICINE
- Gli2 trafficking links Hedgehog-dependent activation of Smoothened in the primary cilium to transcriptional activation in the nucleus
- (2009) J. Kim et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Multiple Primary Cilia Modulate the Fluid Transcytosis in Choroid Plexus Epithelium
- (2009) Keishi Narita et al. TRAFFIC
- Selective activation mechanisms of Wnt signaling pathways
- (2009) Akira Kikuchi et al. TRENDS IN CELL BIOLOGY
- CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa
- (2008) Abdul Noor et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia
- (2008) Carsten Bergmann et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle
- (2008) Jonna Tallila et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Polycystic Kidney Disease
- (2008) Peter C. Harris et al. Annual Review of Medicine
- Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool
- (2008) N. Spassky et al. DEVELOPMENTAL BIOLOGY
- Intraflagellar transport protein 172 is essential for primary cilia formation and plays a vital role in patterning the mammalian brain
- (2008) Marat Gorivodsky et al. DEVELOPMENTAL BIOLOGY
- Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia
- (2008) Vishal Patel et al. HUMAN MOLECULAR GENETICS
- CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium
- (2008) Joon Kim et al. HUMAN MOLECULAR GENETICS
- Polycystin-1 C-terminal tail associates with β-catenin and inhibits canonical Wnt signaling
- (2008) Mark Lal et al. HUMAN MOLECULAR GENETICS
- TRPP2 and TRPV4 form a polymodal sensory channel complex
- (2008) Michael Köttgen et al. JOURNAL OF CELL BIOLOGY
- A Crucial Role for Primary Cilia in Cortical Morphogenesis
- (2008) M. A. Willaredt et al. JOURNAL OF NEUROSCIENCE
- Molecular Architecture of the Centriole Proteome: The Conserved WD40 Domain Protein POC1 Is Required for Centriole Duplication and Length Control
- (2008) Lani C. Keller et al. MOLECULAR BIOLOGY OF THE CELL
- Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells
- (2008) Young-Goo Han et al. NATURE NEUROSCIENCE
- From individual Wnt pathways towards a Wnt signalling network
- (2008) H. A Kestler et al. PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
- Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome
- (2008) J. L. Tobin et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The stumpy gene is required for mammalian ciliogenesis
- (2008) T. Town et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Primary cilia regulate hippocampal neurogenesis by mediating sonic hedgehog signaling
- (2008) J. J. Breunig et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started