Strain-specific differences in brain gene expression in a hydrocephalic mouse model with motile cilia dysfunction

[1]  L. Al-Gazali,et al.  Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus , 2018, BMC Medical Genetics.

[2]  Kunihiko Takahashi,et al.  Daple Coordinates Planar Polarized Microtubule Dynamics in Ependymal Cells and Contributes to Hydrocephalus. , 2017, Cell reports.

[3]  C. Thompson,et al.  Arl3 and RP2 regulate the trafficking of ciliary tip kinesins , 2017, Human molecular genetics.

[4]  Q. Jiang,et al.  DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle* , 2016, The Journal of Biological Chemistry.

[5]  T. Toda,et al.  Regulation of centriolar satellite integrity and its physiology , 2016, Cellular and Molecular Life Sciences.

[6]  Xiumin Yan,et al.  Production of Basal Bodies in bulk for dense multicilia formation , 2016, F1000Research.

[7]  R. Patel-King,et al.  A prefoldin-associated WD-repeat protein (WDR92) is required for the correct architectural assembly of motile cilia , 2016, Molecular biology of the cell.

[8]  S. Dutcher,et al.  Genetics and biology of primary ciliary dyskinesia. , 2016, Paediatric respiratory reviews.

[9]  Kristopher T Kahle,et al.  Hydrocephalus in children , 2016, The Lancet.

[10]  Junmin Pan,et al.  Mechanism of ciliary disassembly , 2016, Cellular and Molecular Life Sciences.

[11]  Zhijian Wu,et al.  Arf-like Protein 3 (ARL3) Regulates Protein Trafficking and Ciliogenesis in Mouse Photoreceptors* , 2016, The Journal of Biological Chemistry.

[12]  T. Stearns,et al.  MDM1 is a microtubule-binding protein that negatively regulates centriole duplication , 2015, Molecular biology of the cell.

[13]  G. Witman,et al.  CFAP54 is required for proper ciliary motility and assembly of the central pair apparatus in mice , 2015, Molecular biology of the cell.

[14]  Alexander W. Johnson,et al.  Neuroanatomical and behavioral deficits in mice haploinsufficient for Pericentriolar material 1 (Pcm1) , 2015, Neuroscience Research.

[15]  Saranya Wyles,et al.  Systems biology surveillance decrypts pathological transcriptome remodeling , 2015, BMC Systems Biology.

[16]  Jason M. Brown,et al.  Assembly of IFT Trains at the Ciliary Base Depends on IFT74 , 2015, Current Biology.

[17]  H. Rauvala,et al.  Association of brain immune genes with social behavior of inbred mouse strains , 2015, Journal of Neuroinflammation.

[18]  O. Ronneberger,et al.  The Rac1 regulator ELMO controls basal body migration and docking in multiciliated cells through interaction with Ezrin , 2015, Development.

[19]  B. Wickstead,et al.  CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies. , 2015, Human molecular genetics.

[20]  P. Mathur,et al.  Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities. , 2015, Biochimica et biophysica acta.

[21]  U. Baxa,et al.  Early steps in primary cilium assembly require EHD1- and EHD3-dependent ciliary vesicle formation , 2015, Nature Cell Biology.

[22]  O. Ronneberger,et al.  The Rac1 regulator ELMO controls basal body migration and docking in multiciliated cells through interaction with Ezrin , 2015, Development.

[23]  G. Germino,et al.  Ciliary membrane proteins traffic through the Golgi via a Rabep1/GGA1/Arl3-dependent mechanism , 2014, Nature Communications.

[24]  D. Kong,et al.  Centriole maturation requires regulated Plk1 activity during two consecutive cell cycles , 2014, The Journal of cell biology.

[25]  R. Finn,et al.  Strain-dependent brain defects in mouse models of primary ciliary dyskinesia with mutations in Pcdp1 and Spef2 , 2014, Neuroscience.

[26]  G. Head,et al.  Identification of genes with altered expression in male and female Schlager hypertensive mice , 2014, BMC Medical Genetics.

[27]  S. Shi,et al.  SDCCAG8 Regulates Pericentriolar Material Recruitment and Neuronal Migration in the Developing Cortex , 2014, Neuron.

[28]  W. Dobyns,et al.  Infantile hydrocephalus: a review of epidemiology, classification and causes. , 2014, European journal of medical genetics.

[29]  Joseph G. Gleeson,et al.  Primary Cilia in the Developing and Mature Brain , 2014, Neuron.

[30]  Nektarios Tavernarakis,et al.  The nucleotide-binding proteins Nubp1 and Nubp2 are negative regulators of ciliogenesis , 2014, Cellular and Molecular Life Sciences.

[31]  C. McKenzie,et al.  Enhanced response to pulmonary Streptococcus pneumoniae infection is associated with primary ciliary dyskinesia in mice lacking Pcdp1 and Spef2 , 2013, Cilia.

[32]  T. Tang Centriole biogenesis in multiciliated cells , 2013, Nature Cell Biology.

[33]  L. A. Daniels,et al.  Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. , 2013, American journal of respiratory and critical care medicine.

[34]  Emily H Turner,et al.  Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. , 2013, American journal of human genetics.

[35]  J. Praetorius,et al.  Cerebrospinal fluid secretion by the choroid plexus. , 2013, Physiological reviews.

[36]  E. Rodríguez,et al.  Disruption of CDH2/N-cadherin-based adherens junctions leads to apoptosis of ependymal cells and denudation of brain ventricular walls. , 2013, Journal of neuropathology and experimental neurology.

[37]  Lance Lee Riding the wave of ependymal cilia: Genetic susceptibility to hydrocephalus in primary ciliary dyskinesia , 2013, Journal of neuroscience research.

[38]  E. Nigg,et al.  Molecular Basis of Tubulin Transport Within the Cilium by IFT74 and IFT81 , 2013, Science.

[39]  J. Asara,et al.  CEP162 is an axoneme-recognition protein promoting ciliary transition zone assembly at the cilia base , 2013, Nature Cell Biology.

[40]  Jiang Chang,et al.  Genetic deletion of Rnd3 results in aqueductal stenosis leading to hydrocephalus through up-regulation of Notch signaling , 2013, Proceedings of the National Academy of Sciences.

[41]  Boyan Zhang,et al.  PCM1 recruits Plk1 to the pericentriolar matrix to promote primary cilia disassembly before mitotic entry , 2013, Journal of Cell Science.

[42]  T. Stearns,et al.  FOP Is a Centriolar Satellite Protein Involved in Ciliogenesis , 2013, PloS one.

[43]  T. Stearns,et al.  Transcriptional Program of Ciliated Epithelial Cells Reveals New Cilium and Centrosome Components and Links to Human Disease , 2012, PloS one.

[44]  Tariq Ahmad Masoodi,et al.  Mutation in MPDZ causes severe congenital hydrocephalus , 2012, Journal of Medical Genetics.

[45]  N. Simonis,et al.  Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus , 2012, Journal of Medical Genetics.

[46]  J. McAllister Pathophysiology of congenital and neonatal hydrocephalus. , 2012, Seminars in fetal & neonatal medicine.

[47]  M. Zhou,et al.  Identification of a novel Wnt5a–CK1ε–Dvl2–Plk1‐mediated primary cilia disassembly pathway , 2012, The EMBO journal.

[48]  B. Schermer,et al.  The Centrosomal Kinase Plk1 Localizes to the Transition Zone of Primary Cilia and Induces Phosphorylation of Nephrocystin-1 , 2012, PloS one.

[49]  C. Downing,et al.  Gene expression changes in C57BL/6J and DBA/2J mice following prenatal alcohol exposure. , 2012, Alcoholism, clinical and experimental research.

[50]  S. Jacobson,et al.  Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. , 2012, The Journal of clinical investigation.

[51]  M. Pisano,et al.  Strain-specific modifier genes governing craniofacial phenotypes. , 2012, Birth defects research. Part A, Clinical and molecular teratology.

[52]  Wei Zhang,et al.  Identification of Candidate Susceptibility and Resistance Genes of Mice Infected with Streptococcus suis Type 2 , 2012, PloS one.

[53]  M. Fleming,et al.  Loss of SPEF2 Function in Mice Results in Spermatogenesis Defects and Primary Ciliary Dyskinesia1 , 2011, Biology of reproduction.

[54]  S. Temple,et al.  SPARC/osteonectin, an endogenous mechanism for targeting albumin to the blood–cerebrospinal fluid interface during brain development , 2011, European Journal of Neuroscience.

[55]  H. Rekate A consensus on the classification of hydrocephalus: its utility in the assessment of abnormalities of cerebrospinal fluid dynamics , 2011, Child's Nervous System.

[56]  Shuo Lin,et al.  A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo , 2011, Cell Research.

[57]  Lance Lee Mechanisms of mammalian ciliary motility: Insights from primary ciliary dyskinesia genetics. , 2011, Gene.

[58]  A. Ekici,et al.  Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum , 2010, Molecular Syndromology.

[59]  L. Tsai,et al.  Hook3 Interacts with PCM1 to Regulate Pericentriolar Material Assembly and the Timing of Neurogenesis , 2010, Neuron.

[60]  V. Sheffield,et al.  BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly , 2010, Proceedings of the National Academy of Sciences.

[61]  B. Yoder,et al.  The Primary Cilium as a Complex Signaling Center , 2009, Current Biology.

[62]  O. Ichii,et al.  Strain differences of cerebral ventricles in mice: can the MRL/MpJ mouse be a model for hydrocephalus? , 2009, The Japanese journal of veterinary research.

[63]  M. Zorzetto,et al.  Early response of gene clusters is associated with mouse lung resistance or sensitivity to cigarette smoke. , 2009, American journal of physiology. Lung cellular and molecular physiology.

[64]  R. Klein,et al.  Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene. , 2008, Human molecular genetics.

[65]  J. Gleeson,et al.  CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium. , 2008, Human molecular genetics.

[66]  J. Goto,et al.  Loss of Fyn tyrosine kinase on the C57BL/6 genetic background causes hydrocephalus with defects in oligodendrocyte development , 2008, Molecular and Cellular Neuroscience.

[67]  G. Pinkus,et al.  Primary Ciliary Dyskinesia in Mice Lacking the Novel Ciliary Protein Pcdp1 , 2007, Molecular and Cellular Biology.

[68]  T. Stearns,et al.  Molecular characterization of centriole assembly in ciliated epithelial cells , 2007, The Journal of cell biology.

[69]  Yan Liu,et al.  The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 , 2006, Nature Genetics.

[70]  B. Yoder,et al.  Dysfunctional cilia lead to altered ependyma and choroid plexus function, and result in the formation of hydrocephalus , 2005, Development.

[71]  J. J. Sharp,et al.  Identification of a ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells , 2005, Nature Genetics.

[72]  V. Sheffield,et al.  Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. , 2005, Human molecular genetics.

[73]  J. García-Verdugo,et al.  Adult Ependymal Cells Are Postmitotic and Are Derived from Radial Glial Cells during Embryogenesis , 2005, The Journal of Neuroscience.

[74]  M. Ringuette,et al.  Interaction between SPARC and tubulin in Xenopus , 2004, Cell and Tissue Research.

[75]  M. R. Bigio,et al.  Cellular Damage and Prevention in Childhood Hydrocephalus , 2004 .

[76]  P. Altevogt,et al.  Brain development in mice lacking L1–L1 homophilic adhesion , 2004, The Journal of cell biology.

[77]  P. Sanberg,et al.  Mouse model of Sanfilippo syndrome type B: relation of phenotypic features to background strain. , 2003, Comparative medicine.

[78]  Bernhard Schermer,et al.  Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis , 2003, Nature Genetics.

[79]  R. Kaufman,et al.  All roads lead to ATF4. , 2003, Developmental cell.

[80]  Karen P. Steel,et al.  Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice , 2002, Hearing Research.

[81]  C. Mahaffey,et al.  Fierce: a new mouse deletion of Nr2e1; violent behaviour and ocular abnormalities are background-dependent , 2002, Behavioural Brain Research.

[82]  M. Pfaffl,et al.  A new mathematical model for relative quantification in real-time RT-PCR. , 2001, Nucleic acids research.

[83]  W. Sale,et al.  Flagellar Radial Spoke Protein 3 Is an a-Kinase Anchoring Protein (Akap) , 2001, The Journal of cell biology.

[84]  E. Rodríguez,et al.  Subcommissural organ, cerebrospinal fluid circulation, and hydrocephalus , 2001, Microscopy research and technique.

[85]  M. Ringuette,et al.  Association of SPARC (osteonectin, BM-40) with extracellular and intracellular components of the ciliated surface ectoderm of Xenopus embryos. , 2000, Cell motility and the cytoskeleton.

[86]  J Sijbers,et al.  L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns. , 1998, Human molecular genetics.

[87]  K. Steel,et al.  Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. , 1998, Development.

[88]  M. Schachner,et al.  Disruption of the mouse L1 gene leads to malformations of the nervous system , 1997, Nature Genetics.

[89]  A. Rosenthal,et al.  A missense mutation confirms the L1 defect in X–linked hydrocephalus (HSAS) , 1993, Nature Genetics.

[90]  E. Kandel,et al.  Impaired long-term potentiation, spatial learning, and hippocampal development in fyn mutant mice. , 1992, Science.

[91]  C. DomingoRibas,et al.  Chapter 50 – Primary Ciliary Dyskinesia , 1991 .

[92]  Michael G. Anderson,et al.  Microarray analysis of iris gene expression in mice with mutations influencing pigmentation. , 2011, Investigative ophthalmology & visual science.

[93]  B. Gumbiner,et al.  Molecular and functional analysis of cadherin-based adherens junctions. , 1997, Annual review of cell and developmental biology.