Nicholas Katsanis

Summary

Affiliation: Johns Hopkins University
Country: USA

Publications

  1. ncbi request reprint Dissection of epistasis in oligogenic Bardet-Biedl syndrome
    Jose L Badano
    McKusick Nathans Institute of Genetic Medicine, Baltimore, Maryland 21205, USA
    Nature 439:326-30. 2006
  2. pmc BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance
    Nicholas Katsanis
    Department of Molecular Genetics, Baylor College of Medicine, Houston, USA
    Am J Hum Genet 71:22-9. 2002
  3. ncbi request reprint The oligogenic properties of Bardet-Biedl syndrome
    Nicholas Katsanis
    Institute of Genetic Medicine and Wilmer Eye Institute, Johns Hopkins University, 600 North Wolfe Street, Baltimore, MD 21287, USA
    Hum Mol Genet 13:R65-71. 2004
  4. pmc From association to causality: the new frontier for complex traits
    Nicholas Katsanis
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Genome Med 1:23. 2009
  5. doi request reprint 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
  6. pmc Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome
    Norann A Zaghloul
    McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 107:10602-7. 2010
  7. pmc Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses
    Atsushi Kamiya
    Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, 600 N Wolfe St, Baltimore, MD 21287, USA
    Arch Gen Psychiatry 65:996-1006. 2008
  8. pmc Age-severity relationships in families linked to FCD2 with retroillumination photography
    Elyse J McGlumphy
    Center for Corneal Genetics, Cornea and External Disease Service, The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
    Invest Ophthalmol Vis Sci 51:6298-302. 2010
  9. pmc Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy
    S Amer Riazuddin
    The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Am J Hum Genet 90:533-9. 2012
  10. pmc Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2
    Jose L Badano
    Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA
    Am J Hum Genet 72:650-8. 2003

Detail Information

Publications64

  1. ncbi request reprint Dissection of epistasis in oligogenic Bardet-Biedl syndrome
    Jose L Badano
    McKusick Nathans Institute of Genetic Medicine, Baltimore, Maryland 21205, USA
    Nature 439:326-30. 2006
    ..Our data demonstrate how the combined use of biochemical, genetic and in vivo tools can facilitate the dissection of epistatic phenomena, and enhance our appreciation of the genetic basis of phenotypic variability...
  2. pmc BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance
    Nicholas Katsanis
    Department of Molecular Genetics, Baylor College of Medicine, Houston, USA
    Am J Hum Genet 71:22-9. 2002
    ..Establishment of the loci pairing in triallelism is likely to be important for the elucidation of the functional relationships among the different BBS proteins...
  3. ncbi request reprint The oligogenic properties of Bardet-Biedl syndrome
    Nicholas Katsanis
    Institute of Genetic Medicine and Wilmer Eye Institute, Johns Hopkins University, 600 North Wolfe Street, Baltimore, MD 21287, USA
    Hum Mol Genet 13:R65-71. 2004
    ..Here, I will review and discuss recent advances in elucidating both genetic and cellular aspects of this phenotype and their potential application in understanding the genetic basis of phenotypic variability and oligogenic inheritance...
  4. pmc From association to causality: the new frontier for complex traits
    Nicholas Katsanis
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Genome Med 1:23. 2009
    ..Here I will discuss these issues and highlight how additional sequencing and genotyping of ever-increasing cohort sizes without functional interpretation is unlikely to improve our ability to dissect the genetic basis of complex traits...
  5. doi request reprint 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
    ..These data extend the genetic stratification of ciliopathies and suggest that BBS and MKS, although distinct clinically, are allelic forms of the same molecular spectrum...
  6. pmc Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome
    Norann A Zaghloul
    McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 107:10602-7. 2010
    ..Importantly, superimposition of these results to human genetics data suggests a previously underappreciated complexity in disease architecture that might be shared among diverse clinical phenotypes...
  7. pmc Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses
    Atsushi Kamiya
    Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, 600 N Wolfe St, Baltimore, MD 21287, USA
    Arch Gen Psychiatry 65:996-1006. 2008
    ..A role for the centrosome has been suggested in the pathology of major mental illnesses, especially schizophrenia (SZ)...
  8. pmc Age-severity relationships in families linked to FCD2 with retroillumination photography
    Elyse J McGlumphy
    Center for Corneal Genetics, Cornea and External Disease Service, The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
    Invest Ophthalmol Vis Sci 51:6298-302. 2010
    ..The present study was undertaken to investigate the age-severity relationship of the FCD2-linked disease phenotype using retroillumination photography and to compare it with the characteristics of FCD1...
  9. pmc Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy
    S Amer Riazuddin
    The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Am J Hum Genet 90:533-9. 2012
    ..All together, our data implicate rare alleles in LOXHD1 in the pathogenesis of FCD and highlight how different mutations in the same locus can potentially produce diverse phenotypes...
  10. pmc Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2
    Jose L Badano
    Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA
    Am J Hum Genet 72:650-8. 2003
    ....
  11. pmc DISC1-dependent switch from progenitor proliferation to migration in the developing cortex
    Koko Ishizuka
    Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
    Nature 473:92-6. 2011
    ..These data highlight a dual role for DISC1 in corticogenesis and indicate that phosphorylation of this protein at S710 activates a key developmental switch...
  12. ncbi request reprint Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
    Stephen J Ansley
    Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA
    Nature 425:628-33. 2003
    ....
  13. ncbi request reprint Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response
    Jantje M Gerdes
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Nat Genet 39:1350-60. 2007
    ....
  14. pmc A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa
    S Amer Riazuddin
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Am J Hum Genet 86:805-12. 2010
    ..Understanding the role of this additional sequence might therefore inform the mechanism of retinal degeneration in patients with syndromic BBS or other related ciliopathies...
  15. ncbi request reprint Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus
    Jose L Badano
    Institute of Genetic Medicine, Johns Hopkins University, 600 North Wolfe Street, Baltimore, MD 21287, USA
    Hum Mol Genet 12:1651-9. 2003
    ....
  16. pmc Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus
    S Amer Riazuddin
    Wilmer Eye Institute, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA
    Invest Ophthalmol Vis Sci 52:2825-9. 2011
    ..The present study was undertaken to examine this association in our cohort of FCD patients, to assess the significance of this finding, and to investigate the candidacy of TCF4 in the context of the mapped FCD2 locus...
  17. ncbi request reprint Triallelic inheritance: a bridge between Mendelian and multifactorial traits
    Erica R Eichers
    Departments of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, Texas 77030, USA
    Ann Med 36:262-72. 2004
    ..Modeling the cooperative ability of alleles of different genes at distinct loci to give rise to a particular phenotype will facilitate the understanding of complex multifactorial and polygenic traits...
  18. pmc Prevalence and severity of fuchs corneal dystrophy in Tangier Island
    Allen O Eghrari
    Wilmer Eye Institute, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA
    Am J Ophthalmol 153:1067-72. 2012
    ..To investigate the clinical and genetic features of late-onset Fuchs corneal dystrophy (FCD) on Tangier, an island in the Chesapeake Bay with an isolated population of approximately 500 individuals...
  19. ncbi request reprint Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
    Heather M Kulaga
    Howard Hughes Medical Institute and Department of Molecular Biology and Genetics, 533 Broadway Street Building, Johns Hopkins University, 733 N Broadway, Baltimore, Maryland 21205, USA
    Nat Genet 36:994-8. 2004
    ..Our data indicate that BBS proteins have a role in the microtubule organization of mammalian ciliated cells and that anosmia might be a useful determinant of other pleiotropic disorders with a suspected ciliary involvement...
  20. pmc Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy
    Norann A Zaghloul
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    J Clin Invest 119:428-37. 2009
    ....
  21. pmc Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome
    Muhammad M Abd-El-Barr
    Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA
    Vision Res 47:3394-407. 2007
    ..Additionally, we show defects in synaptic transmission from the photoreceptors to secondary neurons of the visual system, demonstrating multiple functions for BBS4 in photoreceptors...
  22. pmc Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy
    S Amer Riazuddin
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Hum Mutat 31:1261-8. 2010
    ..Taken together with a recent model between FCD and yet another early onset corneal dystrophy, PPCD, our data suggest a shared pathomechanism and genetic overlap across several corneal dystrophies...
  23. doi request reprint Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2
    S Amer Riazuddin
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Invest Ophthalmol Vis Sci 50:5667-71. 2009
    ..To identify the disease locus associated with autosomal dominant Fuchs corneal dystrophy (FCD) in a large family and to compare the progression of severity in families mapped to the FCD1 and FCD2 loci...
  24. pmc Zebrafish assays of ciliopathies
    Norann A Zaghloul
    Department of Medicine, Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland, USA
    Methods Cell Biol 105:257-72. 2011
    ..The techniques presented here provide a basic toolkit for in vivo investigation of both the biological and genetic mechanisms underlying a growing class of human diseases...
  25. pmc Population bottlenecks as a potential major shaping force of human genome architecture
    Adrian Gherman
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, United States of America
    PLoS Genet 3:e119. 2007
    ....
  26. pmc Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting
    Abigail L D Tadenev
    Center for Sensory Biology, Department of Molecular Biology and Genetics, School of Medicine, The Johns Hopkins University, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 108:10320-5. 2011
    ....
  27. ncbi request reprint Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity
    Erica R Eichers
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza Room 604B, Houston, TX 77030, USA
    Hum Genet 120:211-26. 2006
    ..Evaluations of these null mice have uncovered phenotypic features with age-dependent penetrance and variable expressivity, partially recapitulating the human BBS phenotype...
  28. pmc Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4
    S Amer Riazuddin
    The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Am J Hum Genet 93:758-64. 2013
    ....
  29. pmc Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function
    Perciliz L Tan
    Department of Biological Chemistry, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 104:17524-9. 2007
    ..Our findings suggest a hitherto unrecognized, but essential, role for mammalian basal body proteins in the acquisition of mechano- and thermosensory stimuli and highlight potentially clinical features of ciliopathies in humans...
  30. ncbi request reprint Beyond Mendel: an evolving view of human genetic disease transmission
    Jose L Badano
    Institute of Genetic Medicine, Johns Hopkins University, 2 127 Jefferson Street Building, Baltimore, Maryland 21287, USA
    Nat Rev Genet 3:779-89. 2002
    ....
  31. doi request reprint Progression of Fuchs corneal dystrophy in a family linked to the FCD1 locus
    Danielle N Meadows
    Center for Corneal Genetics, Cornea and External Disease Service, The Wilmer Eye Institute, Baltimore, MD 21287, USA
    Invest Ophthalmol Vis Sci 50:5662-6. 2009
    ..This study was undertaken to quantitatively assess disease progression in a cohort of individuals with late-onset FCD linked to chromosome 13...
  32. ncbi request reprint The centrosome in human genetic disease
    Jose L Badano
    McKusick Nathans Institute of Genetic Medicine, John Hopkins University, 533 Broadway Research Building, 733 N Broadway, Baltimore, Maryland 21205, USA
    Nat Rev Genet 6:194-205. 2005
    ..Here, we review the mechanistic relationship between human disease phenotypes and the function of the centrosome, and describe some of the newly-appreciated functions of this organelle in animal cells...
  33. pmc The vertebrate primary cilium in development, homeostasis, and disease
    Jantje M Gerdes
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Cell 137:32-45. 2009
    ..Here, we highlight properties of vertebrate cilia, with particular emphasis on their relationship with other subcellular structures, and explore the physiological consequences of ciliary dysfunction...
  34. pmc Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p
    S Amer Riazuddin
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Am J Hum Genet 86:45-53. 2010
    ..Our data suggest that PPCD and FCD are allelic variants of the same disease continuum and that genetic interaction between genes that cause corneal dystrophies can modulate the expressivity of the phenotype...
  35. ncbi request reprint The ciliopathies: an emerging class of human genetic disorders
    Jose L Badano
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21205, USA
    Annu Rev Genomics Hum Genet 7:125-48. 2006
    ....
  36. pmc TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities
    Wojciech Wiszniewski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 93:197-210. 2013
    ....
  37. pmc Thermosensory and mechanosensory perception in human genetic disease
    Perciliz L Tan
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Hum Mol Genet 18:R146-55. 2009
    ....
  38. ncbi request reprint A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
    Bart L Loeys
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Nat Genet 37:275-81. 2005
    ....
  39. ncbi request reprint Small molecule intervention in microtubule-associated human disease
    Jantje M Gerdes
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
    Hum Mol Genet 14:R291-300. 2005
    ....
  40. pmc Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1
    Erica R Eichers
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Am J Hum Genet 70:955-64. 2002
    ..This difference may account for the severe phenotype in these families and exemplifies the molecular continuum that underlies clinically distinct but genetically related entities...
  41. pmc Neuroanatomical and behavioral deficits in mice haploinsufficient for Pericentriolar material 1 (Pcm1)
    Sandra Zoubovsky
    Department of Psychiatry, Johns Hopkins University School of Medicine, 600 N Wolfe St, Baltimore, MD 21287, United States
    Neurosci Res 98:45-9. 2015
    ..Together, our results suggest that haploinsufficiency at the Pcm1 locus can induce a range of neuroanatomical and behavioral phenotypes that support the candidacy of this locus in neuropsychiatric disorders. ..
  42. pmc Ectopic overexpression of Sonic Hedgehog (Shh) induces stromal expansion and metaplasia in the adult murine pancreas
    Volker Fendrich
    Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Neoplasia 13:923-30. 2011
    ..This autochthonous model serves as a platform for studying epithelial stromal interactions in pancreatic carcinogenesis...
  43. doi request reprint Ciliary function and Wnt signal modulation
    Jantje M Gerdes
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Curr Top Dev Biol 85:175-95. 2008
    ..In addition, we will discuss aberrant Wnt signaling could contribute to phenotypes common to most ciliopathies and why these phenotypes might be driven by loss of noncanonical rather than gain of noncanonical Wnt signaling...
  44. ncbi request reprint Life without centrioles: cilia in the spotlight
    Jose L Badano
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
    Cell 125:1228-30. 2006
    ..New work, including a study in this issue (), highlights the unexpected finding that lack of centrioles does not impede development in the fruit fly. Rather, flies reach maturity but then die because their sensory neurons lack cilia...
  45. pmc Functional modules, mutational load and human genetic disease
    Norann A Zaghloul
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Trends Genet 26:168-76. 2010
    ....
  46. pmc A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes
    Nicholas Katsanis
    Department of Molecular and Human Genetics, Texas Children s Hospital, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 99:14326-31. 2002
    ....
  47. pmc Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction
    Matthew N Bainbridge
    From the Human Genome Sequencing Center M N B, M W, H D, D M, E B, R G, Department Pediatrics Cardiology, Baylor College of Medicine, Houston, TX H R M, R P, J L J Codified Genomics, LLC, Houston, TX M N B Center for Human Disease Modeling, Duke University Medical Center, Durham, NC E E D, N K and Department of Cell Biology, Duke University, Durham, NC W Y C, A D
    Circ Cardiovasc Genet 8:544-52. 2015
    ..Left ventricular noncompaction (LVNC) is an autosomal-dominant, genetically heterogeneous cardiomyopathy with variable severity, which may co-occur with cardiac hypertrophy...
  48. pmc De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
    Lindsay C Burrage
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA Department of Pediatrics, Texas Children s Hospital, Houston, TX 77030, USA
    Am J Hum Genet 97:904-13. 2015
    ....
  49. pmc Loss of δ-catenin function in severe autism
    Tychele N Turner
    1 Center for Complex Disease Genomics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA 2 Predoctoral Training Program in Human Genetics and Molecular Biology, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA 3 National Institute of Mental Health NIMH Autism Centers of Excellence ACE Genetics Consortium at the University of California, Los Angeles, Los Angeles, California 90095, USA
    Nature 520:51-6. 2015
    ..Our data contribute to the understanding of the genetic architecture of autism and suggest that genetic analyses of phenotypic extremes, such as female-enriched multiplex families, are of innate value in multifactorial disorders. ..
  50. ncbi request reprint The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle
    Erica E Davis
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Dev Cell 11:9-19. 2006
    ..Here, we review advances in deciphering the functional components of cilia, and we explore emerging trends that implicate ciliary proteins in signal transduction and morphogenetic pathways...
  51. ncbi request reprint Bardet-Biedl Syndrome in an African-American patient: should the diagnostic criteria be expanded to include hydrometrocolpos?
    Hassanain S Toma
    The Wilmer Eye Institute, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
    Ophthalmic Genet 28:95-9. 2007
    ....
  52. ncbi request reprint BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
    Corinne Stoetzel
    Laboratoire de Génétique Médicale EA 3949, Faculté de médecine de Strasbourg, Universite Louis Pasteur, 67085 Strasbourg, France
    Nat Genet 38:521-4. 2006
    ..In zebrafish, mild suppression of bbs10 exacerbated the phenotypes of other bbs morphants...
  53. pmc Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome
    Philip L Beales
    Molecular Medicine Unit, Institute of Child Health, University College London, United Kingdom
    Am J Hum Genet 72:1187-99. 2003
    ....
  54. ncbi request reprint The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression
    Jun Chul Kim
    Department of Molecular Biology and Biochemistry, Simon Fraser University, 8888 University Dr, Burnaby BC, V5A 1S6, Canada
    Nat Genet 36:462-70. 2004
    ....
  55. ncbi request reprint Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene
    Jin Billy Li
    Department of Genetics, Washington University School of Medicine, St Louis, MO 63110, USA
    Cell 117:541-52. 2004
    ..We show that this novel protein localizes to basal bodies in mouse and C. elegans, is under the regulatory control of daf-19, and is necessary for the generation of both cilia and flagella...
  56. pmc Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study
    Susan J Moore
    Clinical Epidemiology Unit, Memorial University, St John s, Newfoundland, Canada
    Am J Med Genet A 132:352-60. 2005
    ..The features in this population do not support the notion that BBS and LMS are distinct. The lack of a genotype-phenotype correlation implies that BBS proteins interact and are necessary for the development of many organs...
  57. ncbi request reprint MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis
    Jun Chul Kim
    Department of Molecular Biology and Biochemistry, Simon Fraser University, 8888 University Drive, Burnaby, BC, V5A 1S6, Canada
    J Cell Sci 118:1007-20. 2005
    ..Our findings provide the first insight into the nature and cellular function of BBS6, and shed light on the potential causes of several ailments, including obesity, retinal degeneration, kidney dysfunction and congenital heart disease...
  58. ncbi request reprint Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
    Alison J Ross
    Molecular Medicine Unit, Institute of Child Health, University College London, WC1N 1EH, UK
    Nat Genet 37:1135-40. 2005
    ..We also show that Vangl2 localizes to the basal body and axoneme of ciliated cells, a pattern reminiscent of that of the BBS proteins. These data suggest that cilia are intrinsically involved in PCP processes...
  59. pmc Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome
    Corinne Stoetzel
    Laboratoire de Genetique Medicale, Faculte de Medecine, Hopitaux Universitaires de Strasbourg, Strasbourg, France
    Am J Hum Genet 80:1-11. 2007
    ....
  60. pmc Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport
    Oliver E Blacque
    Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, B C V5A 1S6, Canada
    Genes Dev 18:1630-42. 2004
    ..Our findings also suggest that some of the cardinal and secondary symptoms of BBS, such as obesity, diabetes, cardiomyopathy, and learning defects may result from cilia dysfunction...
  61. ncbi request reprint Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome
    Yanli Fan
    Department of Molecular Biology and Biochemistry, Simon Fraser University, 8888 University Drive, Burnaby, B C V5A 1S6, Canada
    Nat Genet 36:989-93. 2004
    ..These findings implicate a small GTP-binding protein in ciliary transport and the pathogenesis of a pleiotropic disorder...
  62. ncbi request reprint 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
    ..These results suggest that MKS proteins mediate a fundamental developmental stage of ciliary formation and epithelial morphogenesis...
  63. pmc An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes
    Chunmei Li
    Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada
    PLoS Genet 4:e1000044. 2008
    ..Our findings therefore implicate MIP-T3 in a previously unknown but critical role in cilium biogenesis and further highlight the emerging role of this organelle in vertebrate development...
  64. pmc Toll-like receptor 3 and geographic atrophy in age-related macular degeneration
    Zhenglin Yang
    Sichuan Academy of Medical Sciences and Sichuan Provincial People s Hospital, Chengdu, China
    N Engl J Med 359:1456-63. 2008
    ..Advanced age-related macular degeneration consists of geographic atrophy and choroidal neovascularization. The specific genetic variants that predispose patients to geographic atrophy are largely unknown...