MKS3

Summary

Gene Symbol: MKS3
Description: transmembrane protein 67
Alias: JBTS6, MECKELIN, MKS3, NPHP11, TNEM67, meckelin, meckel syndrome type 3 protein
Species: human

Top Publications

  1. pmc Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy
    Hee Gyung Kang
    Department of Pediatrics, Seoul National University Children s Hospital, Seoul, Republic of Korea
    Exp Mol Med 48:e251. 2016
  2. doi Molecular genetic analysis of 30 families with Joubert syndrome
    T Suzuki
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Clin Genet 90:526-535. 2016
  3. doi TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome
    Nils J Lambacher
    School of Biomolecular and Biomedical Science, UCD Conway Institute, University College Dublin, Belfield, Dublin 4, Ireland
    Nat Cell Biol 18:122-31. 2016
  4. pmc Superresolution Pattern Recognition Reveals the Architectural Map of the Ciliary Transition Zone
    T Tony Yang
    Institute of Atomic and Molecular Sciences, Academia Sinica, Taipei, 10617, Taiwan
    Sci Rep 5:14096. 2015
  5. pmc A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China
    Manli Zhang
    Department of Obstetrics and Gynecology, Chinese PLA General Hospital Beijing 100853, China
    Int J Clin Exp Pathol 8:5379-86. 2015
  6. pmc The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway
    Zakia A Abdelhamed
    Ciliopathy Research Group, Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK Department of Anatomy and Embryology, Faculty of Medicine, Al Azhar University, Cairo 11844, Egypt
    Dis Model Mech 8:527-41. 2015
  7. pmc Joubert syndrome: genotyping a Northern European patient cohort
    Hester Y Kroes
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Eur J Hum Genet 24:214-20. 2016
  8. doi Light-dependent transcriptional events during resting egg hatching of the rotifer Brachionus manjavacas
    Hee Jin Kim
    Graduate School of Fisheries Science and Environmental Studies, Nagasaki University, Bunkyo 1 14, Nagasaki 852 8521, Japan Electronic address
    Mar Genomics 20:25-31. 2015
  9. pmc The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells
    Sveva Romani
    Neurogenetics Unit, Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, FG, Italy Department of Molecular Medicine, Sapienza University, Rome, Italy
    Differentiation 87:134-46. 2014
  10. pmc Reduction of meckelin leads to general loss of cilia, ciliary microtubule misalignment and distorted cell surface organization
    Tyler Picariello
    Department of Biology, University of Vermont, 120A Marsh Life Science Bldg, Burlington, VT 05405, USA
    Cilia 3:2. 2014

Research Grants

  1. Joseph G Gleeson; Fiscal Year: 2016
  2. CHEMOSENSORY TRANSDUCTION
    JUDITH VAN HOUTEN; Fiscal Year: 2003
  3. GPI ANCHORED PROTEINS IN CHEMORESPONSE
    JUDITH VAN HOUTEN; Fiscal Year: 2004
  4. Plasma Membrane Ca-ATPases in Mouse Chemosensory Cells
    JUDITH VAN HOUTEN; Fiscal Year: 2005

Scientific Experts

  • DANIEL A DOHERTY
  • JUDITH VAN HOUTEN
  • Justyna Paprocka
  • K Aliferis
  • Meral Gunay-Aygun
  • P C Harris
  • Hester Y Kroes
  • Melissa A Parisi
  • Chih Ping Chen
  • Enza Maria Valente
  • Colin A Johnson
  • Joseph G Gleeson
  • Tania Attie-Bitach
  • Katarzyna Szymanska
  • Sophie Saunier
  • Vincent H Gattone
  • Zakia A Abdelhamed
  • Nicholas Katsanis
  • Helen R Dawe
  • Gabrielle Wheway
  • Lekbir Baala
  • Clare V Logan
  • Edgar A Otto
  • Cynthia J Hommerding
  • Vicente E Torres
  • Yanping Lu
  • Marie Claire Gubler
  • Arnold Munnich
  • Sophie Audollent
  • Ferechte Encha-Razavi
  • Michel Vekemans
  • Valeska Frank
  • Ursula M Smith
  • Amanda C Leightner
  • Matthew Adams
  • Peter G Czarnecki
  • Gayle B Collin
  • Friedhelm Hildebrandt
  • Susan A Cook
  • Miriam Iannicelli
  • Soumaya Mougou-Zerelli
  • Francesco Brancati
  • Keith Gull
  • F Hildebrandt
  • E A Otto
  • Mark B Consugar
  • Remi Salomon
  • M T F Wolf
  • Jelena Martinovic
  • Chantal Esculpavit
  • Joelle Roume
  • Nils J Lambacher
  • T Suzuki
  • Hee Gyung Kang
  • Stanislas Lyonnet
  • Catherine Ozilou
  • Rana Khaddour
  • Hee Jin Kim
  • Phillip Cox
  • Manli Zhang
  • T Tony Yang
  • Huijun Yuan
  • Carmel Toomes
  • Sveva Romani
  • Jing Cheng
  • Subaashini Natarajan
  • Yali Li
  • Tyler Picariello
  • Yu Lu
  • Oliver E Blacque
  • Sarika Tiwari
  • E Du
  • Yoshinori Tsurusaki
  • C Geoffrey Woods
  • Christopher P Bennett
  • Deirdre A Kelly
  • Laurence Faivre
  • Jianjun Chen
  • Stephen B Mason
  • Jennifer L Pluznick
  • Katharina Hopp
  • Francesc R Garcia-Gonzalo
  • Corey L Williams
  • Jeffrey L Salisbury
  • Gokul Ramaswami
  • H Kayserili
  • A Janecke
  • P Trnka
  • Jurgen K Naggert
  • Neil V Morgan

Detail Information

Publications63

  1. pmc Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy
    Hee Gyung Kang
    Department of Pediatrics, Seoul National University Children s Hospital, Seoul, Republic of Korea
    Exp Mol Med 48:e251. 2016
    ..mutations in 3 Senior-Løken syndrome patients, a CEP290/NPHP6 mutation in 1 Joubert syndrome patient, and TMEM67/MKS3 mutations in 4 Joubert syndrome patients with liver involvement...
  2. doi Molecular genetic analysis of 30 families with Joubert syndrome
    T Suzuki
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Clin Genet 90:526-535. 2016
    ..BBS1 is the causative gene in Bardet-Biedl syndrome. These concomitant mutations led to severe and/or complex clinical features in the patients, suggesting combined effects of different mutant genes...
  3. doi TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome
    Nils J Lambacher
    School of Biomolecular and Biomedical Science, UCD Conway Institute, University College Dublin, Belfield, Dublin 4, Ireland
    Nat Cell Biol 18:122-31. 2016
    ..This work expands the MKS module of ciliopathy-causing TZ proteins associated with diffusion barrier formation and provides insight into TZ subdomain architecture. ..
  4. pmc Superresolution Pattern Recognition Reveals the Architectural Map of the Ciliary Transition Zone
    T Tony Yang
    Institute of Atomic and Molecular Sciences, Academia Sinica, Taipei, 10617, Taiwan
    Sci Rep 5:14096. 2015
    ..Together, our results reveal an unprecedented structural framework of the TZ, facilitating our understanding in molecular screening and assembly at the ciliary base. ..
  5. pmc A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China
    Manli Zhang
    Department of Obstetrics and Gynecology, Chinese PLA General Hospital Beijing 100853, China
    Int J Clin Exp Pathol 8:5379-86. 2015
    ..1645C>T substitution in exon 16 of TMEM67, leading to a p.R549C substitution in meckelin. The R549 residue is highly conserved across human, rat, mouse, zebrafish, chicken, wolf and platypus genomes...
  6. pmc The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway
    Zakia A Abdelhamed
    Ciliopathy Research Group, Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK Department of Anatomy and Embryology, Faculty of Medicine, Al Azhar University, Cairo 11844, Egypt
    Dis Model Mech 8:527-41. 2015
    ..TMEM67 (meckelin) is essential for phosphorylation of the non-canonical Wnt receptor ROR2 (receptor-tyrosine-kinase-like orphan ..
  7. pmc Joubert syndrome: genotyping a Northern European patient cohort
    Hester Y Kroes
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Eur J Hum Genet 24:214-20. 2016
    ....
  8. doi Light-dependent transcriptional events during resting egg hatching of the rotifer Brachionus manjavacas
    Hee Jin Kim
    Graduate School of Fisheries Science and Environmental Studies, Nagasaki University, Bunkyo 1 14, Nagasaki 852 8521, Japan Electronic address
    Mar Genomics 20:25-31. 2015
    ..RT-PCR revealed that several transcripts such as encoding V-type H(+)-translocating pyrophosphatase (V-PPase) and Meckelin had prolonged expression levels when exposed to light for 4h...
  9. pmc The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells
    Sveva Romani
    Neurogenetics Unit, Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, FG, Italy Department of Molecular Medicine, Sapienza University, Rome, Italy
    Differentiation 87:134-46. 2014
    ..In the present study we show that mESCs express the ciliary proteins Meckelin and Jouberin in a developmentally-regulated manner, and that these proteins co-localize with acetylated tubulin ..
  10. pmc Reduction of meckelin leads to general loss of cilia, ciliary microtubule misalignment and distorted cell surface organization
    Tyler Picariello
    Department of Biology, University of Vermont, 120A Marsh Life Science Bldg, Burlington, VT 05405, USA
    Cilia 3:2. 2014
    b>Meckelin (MKS3), a conserved protein linked to Meckel Syndrome, assists in the migration of centrioles to the cell surface for ciliogenesis...
  11. pmc Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
    D Doherty
    University of Washington, Seattle, WA 98195 0320, USA
    J Med Genet 47:8-21. 2010
    ..To identify genetic causes of COACH syndrome..
  12. ncbi Comparative physical maps of the human and mouse Meckel syndrome critical regions
    Kathryn E Hentges
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Mamm Genome 15:252-64. 2004
    ..Finally, we have analyzed genes present in the other Meckel syndrome critical regions, MKS2 and MKS3, to determine whether any of the candidate genes for the three MKS loci have similar gene functions or are members ..
  13. pmc 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
    Zakia A Abdelhamed
    Ciliopathy Research Group, Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK
    Hum Mol Genet 22:1358-72. 2013
    ..mutations in TMEM67 (also known as MKS3) cause both MKS and JBTS, with TMEM67 encoding the orphan receptor meckelin (TMEM67) that localizes to the ciliary transition zone...
  14. pmc The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity
    Amanda C Leightner
    Department of Biochemistry and Molecular Biology, Division of Nephrology and Hypertension, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Hum Mol Genet 22:2024-40. 2013
    ..TMEM67 mutation (MKS3) is a major cause of MKS and the related ciliopathy Joubert syndrome, although the complete etiology of the disease ..
  15. pmc Evidence that TMEM67 causes polycystic kidney disease through activation of JNK/ERK-dependent pathways
    E Du
    Tianjin Institute of Urology, The Second Hospital of Tianjin Medical University, Tianjin 300211, China
    Cell Biol Int 37:694-702. 2013
    ..Based on these in vitro and in vivo observations, we propose that TMEM67 mutations cause PKD through ERK- and JNK-dependent signalling pathways, which may provide novel insight into the therapy of polycystic kidney diseases...
  16. pmc Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3)
    Yanping Lu
    Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, China
    PLoS ONE 8:e73245. 2013
    ..study, we have identified a homozygous TMEM67 mutation in a Chinese family exhibiting clinical characteristics of MKS3, which provided a ground for further PGD procedure...
  17. pmc Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome
    Sarika Tiwari
    Department of Biology, Indiana University Purdue University Indianapolis, Indianapolis, Indiana, United States of America
    PLoS ONE 8:e59306. 2013
    ..The present study evaluated meckelin (MKS3) expression during outer segment genesis and determined the consequences of mutant meckelin on ..
  18. pmc A meckelin-filamin A interaction mediates ciliogenesis
    Matthew Adams
    Ciliopathy Research Group, Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK
    Hum Mol Genet 21:1272-86. 2012
    MKS3, encoding the transmembrane receptor meckelin, is mutated in Meckel-Gruber syndrome (MKS), an autosomal-recessive ciliopathy. Meckelin localizes to the primary cilium, basal body and elsewhere within the cell...
  19. pmc Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis
    Gayle B Collin
    Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    Invest Ophthalmol Vis Sci 53:967-74. 2012
    ..b>Meckelin is a component of ciliary and cell membranes and is encoded by Tmem67 (Mks3)...
  20. ncbi [Joubert syndrome and related disorders]
    Justyna Paprocka
    Justyna Paprocka, Child Neurology Department, Medical University of Silesia, Katowice, Poland
    Neurol Neurochir Pol 46:379-83. 2012
    ..The identification of seven causal genes (NPHP1, AHI1, CEP290, RPGRIP1L, TMEM67/MKS3, ARL13B, CC2D2A) has led to substantial progress in the understanding of the genetic basis of Joubert syndrome...
  21. doi The diagnostic utility of exome sequencing in Joubert syndrome and related disorders
    Yoshinori Tsurusaki
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    J Hum Genet 58:113-5. 2013
    ..Compared with conventional Sanger sequencing, WES appears to be advantageous with regard to speed and cost, supporting its potential utility in molecular diagnosis...
  22. ncbi Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis
    M T F Wolf
    Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan 48109 0646, USA
    Kidney Int 72:1520-6. 2007
    ..Mutations in four separate genes (AHI1, NPHP1, CEP290/NPHP6, and MKS3) are linked to JS. However, missense mutations in a new ciliary gene (RPGRIP1L) were found in type B patients...
  23. pmc B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis
    Katharina Hopp
    Department of Biochemistry and Molecular Biology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Hum Mol Genet 20:2524-34. 2011
    ..The fetus inherited an additional likely pathogenic novel missense change to a second MKS gene, CEP290; p.R2210C, suggesting oligogenic inheritance in this disorder...
  24. ncbi Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome
    Valeska Frank
    Department of Human Genetics, RWTH Aachen University, Aachen, Germany
    Hum Mutat 29:45-52. 2008
    ..Recently, genes for MKS1 and MKS3 were identified, putting MKS on the list of ciliary disorders (ciliopathies)...
  25. pmc Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
    Lekbir Baala
    Université René Descartes et INSERM U 781, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Am J Hum Genet 81:170-9. 2007
    ..Three loci have been mapped (MKS1-MKS3), and two genes have been identified (MKS1/FLJ20345 and MKS3/TMEM67), whereas the gene at the MKS2 locus remains ..
  26. ncbi Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome
    Valeska Frank
    Department of Human Genetics, RWTH Aachen University, Aachen, Germany
    Hum Mutat 28:638-9. 2007
    ..Three MKS loci have been mapped and recently, two genes were identified: MKS1 on 17q22 in Caucasian kindreds and MKS3 on 8q22 in Omani and Pakistani families, putting MKS on the growing list of ciliary disorders ("ciliopathies")...
  27. ncbi Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online
    Rana Khaddour
    INSERM U 781, Hopital Necker Enfants Malades, Universite Rene Descartes, Paris, France
    Hum Mutat 28:523-4. 2007
    ..is genetically heterogeneous and three loci have been mapped respectively on 17q23 (MKS1), 11q13 (MKS2), and 8q24 (MKS3)...
  28. ncbi Meckel syndrome: genetics, perinatal findings, and differential diagnosis
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 46:9-14. 2007
    ..MKS3 encodes a seven-transmembrane receptor protein, meckelin. The identification of the MKS3 gene as well as the MKS1 gene enables molecular genetic testing for at-risk ..
  29. ncbi Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3
    Mark B Consugar
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
    Hum Genet 121:591-9. 2007
    ..MKS is genetically heterogeneous with three loci mapped and two identified; MKS1 (17q23) and MKS3 (8q22.1)...
  30. ncbi The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation
    Helen R Dawe
    Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford OX1 3RE, UK
    Hum Mol Genet 16:173-86. 2007
    ..study describes the cellular, sub-cellular and functional characterization of the novel proteins, MKS1 and meckelin, encoded by these genes...
  31. pmc The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
    Lekbir Baala
    INSERM U 781, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 80:186-94. 2007
    ..of patients with JS (n=22), we identified MKS3 mutations in four patients with JS, thus defining MKS3 as the sixth JS locus (JBTS6). No MKS1 mutations were identified in this series, suggesting that the allelism is restricted to MKS3.
  32. ncbi The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
    Ursula M Smith
    Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham Medical School, Birmingham B15 2TT, UK
    Nat Genet 38:191-6. 2006
    ..It encodes a 995-amino acid seven-transmembrane receptor protein of unknown function that we have called meckelin.
  33. doi Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing
    K Aliferis
    Centre de Référence pour les Affections Rares en Génétique Ophtalmologique, CARGO, Hopitaux Universitaires de Strasbourg, Strasbourg, France
    Ophthalmic Genet 33:18-22. 2012
    ..To date, 16 genes are known to be associated with BBS (BBS1-16) and only one gene has been identified for Alström syndrome (ALMS1)...
  34. pmc A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
    Francesc R Garcia-Gonzalo
    Department of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, California, USA
    Nat Genet 43:776-84. 2011
    ..Thus, a transition zone complex of Meckel and Joubert syndrome proteins regulates ciliary assembly and trafficking, suggesting that transition zone dysfunction is the cause of these ciliopathies...
  35. pmc Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes
    Jianjun Chen
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20852, USA
    Invest Ophthalmol Vis Sci 52:5317-24. 2011
    ..The aim of our study was to define further the spectrum of BBS mutations in a cohort of 44 European-derived American, 8 Tunisian, 1 Arabic, and 2 Pakistani families (55 families in total) with BBS...
  36. pmc Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C
    Mei Wang
    Division of Pulmonary Biology, Cincinnati Children s Research Foundation, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229 3039, USA
    J Biol Chem 284:33377-83. 2009
    ..Microarray screens for genes involved in SP-C ER-associated degradation identified MKS3/TMEM67, a locus previously linked to the ciliopathy Meckel-Gruber syndrome...
  37. pmc CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290
    Nicholas T Gorden
    Division of Genetics and Developmental Medicine, Department of Pediatrics, School of Medicine, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 83:559-71. 2008
    ..These observations extend the genetic spectrum of JSRD and provide a model system for studying extragenic modifiers in JSRD and other ciliopathies...
  38. pmc MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement
    Francesco Brancati
    IRCCS CSS Mendel Institute, Rome, Italy
    Hum Mutat 30:E432-42. 2009
    ..Recently, mutations in the MKS3 gene (approved symbol TMEM67), causative of about 7% MS cases, have been detected in few Meckel-like and pure JS ..
  39. pmc A mouse model for Meckel syndrome type 3
    Susan A Cook
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    J Am Soc Nephrol 20:753-64. 2009
    ..In humans, the underlying mutated gene, TMEM67, encodes transmembrane protein 67, also called meckelin (OMIM 609884), which is an integral protein of the renal epithelial cell and membrane of the primary cilium...
  40. doi 2008 Homer W. Smith Award: insights into the pathogenesis of polycystic kidney disease from gene discovery
    Peter C Harris
    Division of Nephrology and Hypertension, Mayo Clinic Rochester, 200 First Street SW, Rochester, MN 55905, USA
    J Am Soc Nephrol 20:1188-98. 2009
    ..cloning identified novel disease-associated protein families: The polycystins (ADPKD); fibrocystins (ARPKD); and meckelin. A common feature of pathogenesis in each disorder seems to be the primary cilia, implicating detection of fluid ..
  41. doi Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
    E A Otto
    Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109 5646, USA
    J Med Genet 46:663-70. 2009
    ..Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Løken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis...
  42. pmc Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3
    Rachaneekorn Tammachote
    Department of Biochemistry Molecular Biology, Mayo Clinic, Rochester, MN, USA
    Hum Mol Genet 18:3311-23. 2009
    ..However, limited data are available about the phenotypes associated with MKS1 and MKS3, and the published ciliary data are conflicting...
  43. pmc MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome
    Meral Gunay-Aygun
    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
    J Pediatr 155:386-92.e1. 2009
    To describe 3 children with mutations in a Meckel syndrome gene (MKS3), with features of autosomal recessive polycystic kidney disease (ARPKD), nephronophthisis, and Joubert syndrome (JS).
  44. ncbi DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands
    Hester Y Kroes
    Department of Medical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 AB Utrecht, The Netherlands
    Eur J Med Genet 51:24-34. 2008
    ..Five genes, AHI1, NPHP1, CEP290, MKS3, and RPGRIP1L, and two additional loci on chromosome 9 and 11 have been identified so far...
  45. pmc Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton
    Helen R Dawe
    Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford OX1 3RE, UK
    J Cell Sci 122:2716-26. 2009
    ..Here we show that two MKS proteins, MKS1 and meckelin, that are required for centrosome migration and ciliogenesis interact with actin-binding isoforms of nesprin-2 (..
  46. pmc CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation
    Soumaya Mougou-Zerelli
    INSERM U 781, Hopital Necker Enfants Malades, Paris, France
    Hum Mutat 30:1574-82. 2009
    ..Allelism of MKS and JBS has been reported for TMEM67/MKS3, CEP290/MKS4, and RPGRIP1L/MKS5...
  47. pmc Joubert syndrome: insights into brain development, cilium biology, and complex disease
    Dan Doherty
    University of Washington and Seattle Children s Hospital, Seattle, WA, USA
    Semin Pediatr Neurol 16:143-54. 2009
    ..of the genetic basis of JS, including identification of seven causal genes (NPHP1, AHI1, CEP290, RPGRIP1L, TMEM67/MKS3, ARL13B and CC2D2A)...
  48. pmc Renal cystic disease proteins play critical roles in the organization of the olfactory epithelium
    Jennifer L Pluznick
    Department of Cellular and Molecular Physiology, Yale School of Medicine New Haven, Connecticut, United States of America
    PLoS ONE 6:e19694. 2011
    ..associated with renal cystic diseases - polycystin 1 and 2 (PC1, PC2), and Meckel-Gruber syndrome 1 and 3 (MKS1, MKS3) - localize to the murine OE. PC1, PC2, MKS1 and MKS3 are all detected in the OE by RT-PCR...
  49. doi Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders
    Ian M Carr
    Division of Molecular and Translational Medicine, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom
    Hum Mutat 30:1642-9. 2009
    ..in three consanguineous families affected with Meckel-Gruber syndrome, to correctly infer the location of the MKS3/TMEM67 locus on chromosome 8q22.1...
  50. pmc Clinical and molecular features of Joubert syndrome and related disorders
    Melissa A Parisi
    Center for Developmental Biology and Perinatal Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, 6100 Executive Boulevard, Bethesda, MD 20892 7510, USA
    Am J Med Genet C Semin Med Genet 151:326-40. 2009
    ..cause JSRD, with some genotype-phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome...
  51. pmc Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
    Miriam Iannicelli
    Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Margherita 261, Rome, Italy
    Hum Mutat 31:E1319-31. 2010
    ..One of the most interesting gene is TMEM67, encoding the transmembrane protein meckelin. We performed mutation analysis of TMEM67 in 341 probands, including 265 JSRD representative of all clinical ..
  52. ncbi A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24
    Neil V Morgan
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham Medical School, Birmingham, B15 2TT, UK
    Hum Genet 111:456-61. 2002
    ..We report the localisation of a third MKS locus ( MKS3) to chromosome 8q24 in this cohort by a genome-wide linkage search using autozygosity mapping...
  53. pmc Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy
    A M Lehman
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
    Am J Med Genet A 152:1411-9. 2010
    ..The mechanisms by which certain organ systems are affected more than others in the spectrum of ciliary diseases remain largely unknown...
  54. pmc Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
    Enza Maria Valente
    Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
    Nat Genet 42:619-25. 2010
    ..TMEM216 formed a complex with Meckelin, which is encoded by a gene also mutated in JSRDs and MKS...
  55. pmc Differential expression of renal proteins in a rodent model of Meckel syndrome
    Stephen B Mason
    Department of Anatomy and Cell Biology, Indiana University School of Medicine, Indianapolis, USA
    Nephron Exp Nephrol 117:e31-8. 2011
    ..Renal protein misexpression was evaluated in the Wpk rat model of human MKS3 gene disease to identify biomarkers for the staging of renal cystic progression.
  56. pmc Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
    Edgar A Otto
    Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA
    J Med Genet 48:105-16. 2011
    ..To overcome the broad genetic locus heterogeneity, a strategy of DNA pooling with consecutive massively parallel resequencing (MPR) was devised...
  57. doi Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects
    Clare V Logan
    Section of Ophthalmology and Neurosciences, Wellcome Trust Brenner Building, Leeds Institute of Molecular Medicine, St James s University Hospital, Beckett Street, Leeds LS9 7TF, UK
    Mol Neurobiol 43:12-26. 2011
    ..MKS is genetically heterogeneous with six known disease genes: MKS1, MKS2/TMEM216, MKS3/TMEM67, RPGRIP1L, CEP290, and CC2D2A with the encoded proteins all implicated in the correct function of primary ..
  58. pmc MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis
    Corey L Williams
    Department of Cell Biology, University of Alabama, Birmingham, AL 35294, USA
    J Cell Biol 192:1023-41. 2011
    ....
  59. doi Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
    Carmen C Leitch
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N Broadway, Baltimore, Maryland 21205, USA
    Nat Genet 40:443-8. 2008
    ..Here we show that mutations in MKS1, MKS3 and CEP290 (also known as NPHP6) either can cause Bardet-Biedl syndrome (BBS) or may have a potential epistatic ..

Research Grants4

  1. Joseph G Gleeson; Fiscal Year: 2016
    ..8] Identified mutations in the JBTS6 gene in patients with liver involvement, 9] Identified and functionally validated the JBTS8 gene (ARL13B)...
  2. CHEMOSENSORY TRANSDUCTION
    JUDITH VAN HOUTEN; Fiscal Year: 2003
    ..These studies should inform the research of others who study sensory transduction in olfaction, taste, chemotaxis and other signaling stems. ..
  3. GPI ANCHORED PROTEINS IN CHEMORESPONSE
    JUDITH VAN HOUTEN; Fiscal Year: 2004
    ..abstract_text> ..
  4. Plasma Membrane Ca-ATPases in Mouse Chemosensory Cells
    JUDITH VAN HOUTEN; Fiscal Year: 2005
    ..The understanding of OSN and VSN function is important for understanding normal olfactory and VNO function in health and disease. ..