Nicholas Katsanis Center for Human Disease Modeling, Department of Cell Biology Duke University Medical Center Biography Publications Institution JoVE Articles Nicholas Katsanis has not added a biography. If you are Nicholas Katsanis and would like to personalize this page please email our Author Liaison for assistance. Publications ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry American Journal of Human Genetics. Jul, 2013 | Pubmed ID: 23849778 TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities American Journal of Human Genetics. Jun, 2013 | Pubmed ID: 23810381 Genetic Architecture of Reciprocal CNVs Current Opinion in Genetics & Development. Jun, 2013 | Pubmed ID: 23747035 The Bardet-Biedl Syndrome-related Protein CCDC28B Modulates MTORC2 Function and Interacts with SIN1 to Control Cilia Length Independently of the MTOR Complex Human Molecular Genetics. Jun, 2013 | Pubmed ID: 23727834 A Functional Variant in the CFI Gene Confers a High Risk of Age-related Macular Degeneration Nature Genetics. Jul, 2013 | Pubmed ID: 23685748 Molecular Genetic Testing and the Future of Clinical Genomics Nature Reviews. Genetics. Jun, 2013 | Pubmed ID: 23681062 Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination The New England Journal of Medicine. May, 2013 | Pubmed ID: 23656588 Mutations in LRRC50 Predispose Zebrafish and Humans to Seminomas PLoS Genetics. Apr, 2013 | Pubmed ID: 23599692 Mutation in Collagen II Alpha 1 Isoforms Delineates Stickler and Wagner Syndrome Phenotypes Molecular Vision. 2013 | Pubmed ID: 23592912 Next-generation Sequencing of the Human Olfactory Receptors Methods in Molecular Biology (Clifton, N.J.). 2013 | Pubmed ID: 23585039 Seven New Loci Associated with Age-related Macular Degeneration Nature Genetics. Apr, 2013 | Pubmed ID: 23455636 Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus American Journal of Human Genetics. Feb, 2013 | Pubmed ID: 23332918 Context-dependent Regulation of Wnt Signaling Through the Primary Cilium Journal of the American Society of Nephrology : JASN. Jan, 2013 | Pubmed ID: 23123400 Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-neural-crest Migration and Define a Recognizable Intellectual-disability Syndrome American Journal of Human Genetics. Dec, 2012 | Pubmed ID: 23159249 Gene Therapy Rescues Cilia Defects and Restores Olfactory Function in a Mammalian Ciliopathy Model Nature Medicine. Sep, 2012 | Pubmed ID: 22941275 Endoglin Mediates Fibronectin/α5β1 Integrin and TGF-β Pathway Crosstalk in Endothelial Cells The EMBO Journal. Oct, 2012 | Pubmed ID: 22940691 Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling Cell. Aug, 2012 | Pubmed ID: 22863007 Extremely Varied Phenotypes in Granular Corneal Dystrophy Type 2 Heterozygotes Molecular Vision. 2012 | Pubmed ID: 22815629 Heritability and Genome-wide Association Study to Assess Genetic Differences Between Advanced Age-related Macular Degeneration Subtypes Ophthalmology. Sep, 2012 | Pubmed ID: 22705344 The Ciliopathies: a Transitional Model into Systems Biology of Human Genetic Disease Current Opinion in Genetics & Development. Jun, 2012 | Pubmed ID: 22632799 KCTD13 is a Major Driver of Mirrored Neuroanatomical Phenotypes of the 16p11.2 Copy Number Variant Nature. May, 2012 | Pubmed ID: 22596160 Endoglin Regulates PI3-kinase/Akt Trafficking and Signaling to Alter Endothelial Capillary Stability During Angiogenesis Molecular Biology of the Cell. Jul, 2012 | Pubmed ID: 22593212 OTX2 Mutations Contribute to the Otocephaly-dysgnathia Complex Journal of Medical Genetics. Jun, 2012 | Pubmed ID: 22577225 Mutations Affecting the Cytoplasmic Functions of the Co-chaperone DNAJB6 Cause Limb-girdle Muscular Dystrophy Nature Genetics. Apr, 2012 | Pubmed ID: 22366786 Mutations in LOXHD1, a Recessive-deafness Locus, Cause Dominant Late-onset Fuchs Corneal Dystrophy American Journal of Human Genetics. Mar, 2012 | Pubmed ID: 22341973 Prevalence and Severity of Fuchs Corneal Dystrophy in Tangier Island American Journal of Ophthalmology. Jun, 2012 | Pubmed ID: 22321803 Direct Role of Bardet-Biedl Syndrome Proteins in Transcriptional Regulation Journal of Cell Science. Jan, 2012 | Pubmed ID: 22302990 Evolutionarily Assembled Cis-regulatory Module at a Human Ciliopathy Locus Science (New York, N.Y.). Feb, 2012 | Pubmed ID: 22282472 Cilia in Vertebrate Development and Disease Development (Cambridge, England). Feb, 2012 | Pubmed ID: 22223675 TMEM237 is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone American Journal of Human Genetics. Dec, 2011 | Pubmed ID: 22152675 Ectopic Overexpression of Sonic Hedgehog (Shh) Induces Stromal Expansion and Metaplasia in the Adult Murine Pancreas Neoplasia (New York, N.Y.). Oct, 2011 | Pubmed ID: 22028618 A Rare Penetrant Mutation in CFH Confers High Risk of Age-related Macular Degeneration Nature Genetics. Dec, 2011 | Pubmed ID: 22019782 Zebrafish Assays of Ciliopathies Methods in Cell Biology. 2011 | Pubmed ID: 21951534 Neuroscience: Imprinting in the Brain Nature. Jul, 2011 | Pubmed ID: 21776070 Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome American Journal of Human Genetics. Jul, 2011 | Pubmed ID: 21763481 Understanding Cargo Specificity in Intraflagellar Transport The EMBO Journal. Jul, 2011 | Pubmed ID: 21731048 A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition Nature Genetics. Aug, 2011 | Pubmed ID: 21725307 Common Variants Near FRK/COL10A1 and VEGFA Are Associated with Advanced Age-related Macular Degeneration Human Molecular Genetics. Sep, 2011 | Pubmed ID: 21665990 Loss of Bardet-Biedl Syndrome Protein-8 (BBS8) Perturbs Olfactory Function, Protein Localization, and Axon Targeting Proceedings of the National Academy of Sciences of the United States of America. Jun, 2011 | Pubmed ID: 21646512 Molecular Analysis of Bardet-Biedl Syndrome Families: Report of 21 Novel Mutations in 10 Genes Investigative Ophthalmology & Visual Science. Jul, 2011 | Pubmed ID: 21642631 KIF7 Mutations Cause Fetal Hydrolethalus and Acrocallosal Syndromes Nature Genetics. Jun, 2011 | Pubmed ID: 21552264 Replication of TCF4 Through Association and Linkage Studies in Late-onset Fuchs Endothelial Corneal Dystrophy PloS One. 2011 | Pubmed ID: 21533127 Ciliopathies The New England Journal of Medicine. Apr, 2011 | Pubmed ID: 21506742 DISC1-dependent Switch from Progenitor Proliferation to Migration in the Developing Cortex Nature. May, 2011 | Pubmed ID: 21471969 Nde1-mediated Inhibition of Ciliogenesis Affects Cell Cycle Re-entry Nature Cell Biology. Apr, 2011 | Pubmed ID: 21394081 TTC21B Contributes Both Causal and Modifying Alleles Across the Ciliopathy Spectrum Nature Genetics. Mar, 2011 | Pubmed ID: 21258341 Replication of the TCF4 Intronic Variant in Late-onset Fuchs Corneal Dystrophy and Evidence of Independence from the FCD2 Locus Investigative Ophthalmology & Visual Science. Apr, 2011 | Pubmed ID: 21245398 Arrayed Primer Extension Technology Simplifies Mutation Detection in Bardet-Biedl and Alström Syndrome European Journal of Human Genetics : EJHG. Apr, 2011 | Pubmed ID: 21157496 CCDC39 is Required for Assembly of Inner Dynein Arms and the Dynein Regulatory Complex and for Normal Ciliary Motility in Humans and Dogs Nature Genetics. Jan, 2011 | Pubmed ID: 21131972 Cystic Diseases of the Kidney: Ciliary Dysfunction and Cystogenic Mechanisms Pediatric Nephrology (Berlin, Germany). Aug, 2011 | Pubmed ID: 21113628 Mutation Analysis in Bardet-Biedl Syndrome by DNA Pooling and Massively Parallel Resequencing in 105 Individuals Human Genetics. Jan, 2011 | Pubmed ID: 21052717 A Mutation in SLC24A1 Implicated in Autosomal-recessive Congenital Stationary Night Blindness American Journal of Human Genetics. Oct, 2010 | Pubmed ID: 20850105 Missense Mutations in the Sodium Borate Cotransporter SLC4A11 Cause Late-onset Fuchs Corneal Dystrophy Human Mutation. Nov, 2010 | Pubmed ID: 20848555 Candidate Exome Capture Identifies Mutation of SDCCAG8 As the Cause of a Retinal-renal Ciliopathy Nature Genetics. Oct, 2010 | Pubmed ID: 20835237 Age-severity Relationships in Families Linked to FCD2 with Retroillumination Photography Investigative Ophthalmology & Visual Science. Dec, 2010 | Pubmed ID: 20811064 Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis Science (New York, N.Y.). Sep, 2010 | Pubmed ID: 20671153 Pitchfork Regulates Primary Cilia Disassembly and Left-right Asymmetry Developmental Cell. Jul, 2010 | Pubmed ID: 20643351 Mutations in TMEM216 Perturb Ciliogenesis and Cause Joubert, Meckel and Related Syndromes Nature Genetics. Jul, 2010 | Pubmed ID: 20512146 Functional Analyses of Variants Reveal a Significant Role for Dominant Negative and Common Alleles in Oligogenic Bardet-Biedl Syndrome Proceedings of the National Academy of Sciences of the United States of America. Jun, 2010 | Pubmed ID: 20498079 A Splice-site Mutation in a Retina-specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa American Journal of Human Genetics. May, 2010 | Pubmed ID: 20451172 Genome-wide Association Study of Advanced Age-related Macular Degeneration Identifies a Role of the Hepatic Lipase Gene (LIPC) Proceedings of the National Academy of Sciences of the United States of America. Apr, 2010 | Pubmed ID: 20385826 Genetic Variants Near TIMP3 and High-density Lipoprotein-associated Loci Influence Susceptibility to Age-related Macular Degeneration Proceedings of the National Academy of Sciences of the United States of America. Apr, 2010 | Pubmed ID: 20385819 Functional Modules, Mutational Load and Human Genetic Disease Trends in Genetics : TIG. Apr, 2010 | Pubmed ID: 20226561 Bardet-Biedl Syndrome-associated Small GTPase ARL6 (BBS3) Functions at or Near the Ciliary Gate and Modulates Wnt Signaling The Journal of Biological Chemistry. May, 2010 | Pubmed ID: 20207729 Individuals with Mutations in XPNPEP3, Which Encodes a Mitochondrial Protein, Develop a Nephronophthisis-like Nephropathy The Journal of Clinical Investigation. Mar, 2010 | Pubmed ID: 20179356 Genetic and Functional Dissection of HTRA1 and LOC387715 in Age-related Macular Degeneration PLoS Genetics. Feb, 2010 | Pubmed ID: 20140183 Missense Mutations in TCF8 Cause Late-onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p American Journal of Human Genetics. Jan, 2010 | Pubmed ID: 20036349 Association of Whirlin with Cav1.3 (alpha1D) Channels in Photoreceptors, Defining a Novel Member of the Usher Protein Network Investigative Ophthalmology & Visual Science. May, 2010 | Pubmed ID: 19959638 Thermosensory and Mechanosensory Perception in Human Genetic Disease Human Molecular Genetics. Oct, 2009 | Pubmed ID: 19808790 Epistasis Between RET and BBS Mutations Modulates Enteric Innervation and Causes Syndromic Hirschsprung Disease Proceedings of the National Academy of Sciences of the United States of America. Aug, 2009 | Pubmed ID: 19666486 Progression of Fuchs Corneal Dystrophy in a Family Linked to the FCD1 Locus Investigative Ophthalmology & Visual Science. Dec, 2009 | Pubmed ID: 19608546 Linkage of a Mild Late-onset Phenotype of Fuchs Corneal Dystrophy to a Novel Locus at 5q33.1-q35.2 Investigative Ophthalmology & Visual Science. Dec, 2009 | Pubmed ID: 19608540 A Common Allele in RPGRIP1L is a Modifier of Retinal Degeneration in Ciliopathies Nature Genetics. Jun, 2009 | Pubmed ID: 19430481 The Vertebrate Primary Cilium in Development, Homeostasis, and Disease Cell. Apr, 2009 | Pubmed ID: 19345185 From Association to Causality: the New Frontier for Complex Traits Genome Medicine. 2009 | Pubmed ID: 19341494 Mechanistic Insights into Bardet-Biedl Syndrome, a Model Ciliopathy The Journal of Clinical Investigation. Mar, 2009 | Pubmed ID: 19252258 Functional Interactions Between the Ciliopathy-associated Meckel Syndrome 1 (MKS1) Protein and Two Novel MKS1-related (MKSR) Proteins Journal of Cell Science. Mar, 2009 | Pubmed ID: 19208769 Analysis of 30 Genes (355 SNPS) Related to Energy Homeostasis for Association with Adiposity in European-American and Yup'ik Eskimo Populations Human Heredity. 2009 | Pubmed ID: 19077438 Ciliary Function and Wnt Signal Modulation Current Topics in Developmental Biology. 2008 | Pubmed ID: 19147006 CC2D2A is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-associated Basal Body Protein CEP290 American Journal of Human Genetics. Nov, 2008 | Pubmed ID: 18950740 Recruitment of PCM1 to the Centrosome by the Cooperative Action of DISC1 and BBS4: a Candidate for Psychiatric Illnesses Archives of General Psychiatry. Sep, 2008 | Pubmed ID: 18762586 Toll-like Receptor 3 and Geographic Atrophy in Age-related Macular Degeneration The New England Journal of Medicine. Oct, 2008 | Pubmed ID: 18753640 An Essential Role for DYF-11/MIP-T3 in Assembling Functional Intraflagellar Transport Complexes PLoS Genetics. Mar, 2008 | Pubmed ID: 18369462 Hypomorphic Mutations in Syndromic Encephalocele Genes Are Associated with Bardet-Biedl Syndrome Nature Genetics. Apr, 2008 | Pubmed ID: 18327255 Impaired Photoreceptor Protein Transport and Synaptic Transmission in a Mouse Model of Bardet-Biedl Syndrome Vision Research. Dec, 2007 | Pubmed ID: 18022666 Loss of Bardet Biedl Syndrome Proteins Causes Defects in Peripheral Sensory Innervation and Function Proceedings of the National Academy of Sciences of the United States of America. Oct, 2007 | Pubmed ID: 17959775 Disruption of the Basal Body Compromises Proteasomal Function and Perturbs Intracellular Wnt Response Nature Genetics. Nov, 2007 | Pubmed ID: 17906624 Population Bottlenecks As a Potential Major Shaping Force of Human Genome Architecture PLoS Genetics. Jul, 2007 | Pubmed ID: 17658953 Cell Polarization Defects in Early Heart Development Circulation Research. Jul, 2007 | Pubmed ID: 17641235 Bardet-Biedl Syndrome in an African-American Patient: Should the Diagnostic Criteria Be Expanded to Include Hydrometrocolpos? Ophthalmic Genetics. Jun, 2007 | Pubmed ID: 17558852 An Age-old Problem PLoS Genetics. Feb, 2007 | Pubmed ID: 17319751 The Meckel-Gruber Syndrome Proteins MKS1 and Meckelin Interact and Are Required for Primary Cilium Formation Human Molecular Genetics. Jan, 2007 | Pubmed ID: 17185389 Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-specific Branch of Chaperonin-related Proteins in Bardet-Biedl Syndrome American Journal of Human Genetics. Jan, 2007 | Pubmed ID: 17160889 The Ciliary Proteome Database: an Integrated Community Resource for the Genetic and Functional Dissection of Cilia Nature Genetics. Sep, 2006 | Pubmed ID: 16940995 The Emerging Complexity of the Vertebrate Cilium: New Functional Roles for an Ancient Organelle Developmental Cell. Jul, 2006 | Pubmed ID: 16824949 Life Without Centrioles: Cilia in the Spotlight Cell. Jun, 2006 | Pubmed ID: 16814708 Phenotypic Characterization of Bbs4 Null Mice Reveals Age-dependent Penetrance and Variable Expressivity Human Genetics. Sep, 2006 | Pubmed ID: 16794820 The Ciliopathies: an Emerging Class of Human Genetic Disorders Annual Review of Genomics and Human Genetics. 2006 | Pubmed ID: 16722803 BBS10 Encodes a Vertebrate-specific Chaperonin-like Protein and is a Major BBS Locus Nature Genetics. May, 2006 | Pubmed ID: 16582908 Ciliary Proteins and Exencephaly Nature Genetics. Feb, 2006 | Pubmed ID: 16444248 Dissection of Epistasis in Oligogenic Bardet-Biedl Syndrome Nature. Jan, 2006 | Pubmed ID: 16327777 Small Molecule Intervention in Microtubule-associated Human Disease Human Molecular Genetics. Oct, 2005 | Pubmed ID: 16244328 Disruption of Bardet-Biedl Syndrome Ciliary Proteins Perturbs Planar Cell Polarity in Vertebrates Nature Genetics. Oct, 2005 | Pubmed ID: 16170314 A Manually Curated Functional Annotation of the Human X Chromosome Nature Genetics. Apr, 2005 | Pubmed ID: 15800640 The Centrosome in Human Genetic Disease Nature Reviews. Genetics. Mar, 2005 | Pubmed ID: 15738963 A Syndrome of Altered Cardiovascular, Craniofacial, Neurocognitive and Skeletal Development Caused by Mutations in TGFBR1 or TGFBR2 Nature Genetics. Mar, 2005 | Pubmed ID: 15731757 MKKS/BBS6, a Divergent Chaperonin-like Protein Linked to the Obesity Disorder Bardet-Biedl Syndrome, is a Novel Centrosomal Component Required for Cytokinesis Journal of Cell Science. Mar, 2005 | Pubmed ID: 15731008 Clinical and Genetic Epidemiology of Bardet-Biedl Syndrome in Newfoundland: a 22-year Prospective, Population-based, Cohort Study American Journal of Medical Genetics. Part A. Feb, 2005 | Pubmed ID: 15637713 Loss of BBS Proteins Causes Anosmia in Humans and Defects in Olfactory Cilia Structure and Function in the Mouse Nature Genetics. Sep, 2004 | Pubmed ID: 15322545 Mutations in a Member of the Ras Superfamily of Small GTP-binding Proteins Causes Bardet-Biedl Syndrome Nature Genetics. Sep, 2004 | Pubmed ID: 15314642 Loss of C. Elegans BBS-7 and BBS-8 Protein Function Results in Cilia Defects and Compromised Intraflagellar Transport Genes & Development. Jul, 2004 | Pubmed ID: 15231740 Triallelic Inheritance: a Bridge Between Mendelian and Multifactorial Traits Annals of Medicine. 2004 | Pubmed ID: 15224652 Comparative Genomics Identifies a Flagellar and Basal Body Proteome That Includes the BBS5 Human Disease Gene Cell. May, 2004 | Pubmed ID: 15137946 The Bardet-Biedl Protein BBS4 Targets Cargo to the Pericentriolar Region and is Required for Microtubule Anchoring and Cell Cycle Progression Nature Genetics. May, 2004 | Pubmed ID: 15107855 The Oligogenic Properties of Bardet-Biedl Syndrome Human Molecular Genetics. Apr, 2004 | Pubmed ID: 14976158 Basal Body Dysfunction is a Likely Cause of Pleiotropic Bardet-Biedl Syndrome Nature. Oct, 2003 | Pubmed ID: 14520415 Heterozygous Mutations in BBS1, BBS2 and BBS6 Have a Potential Epistatic Effect on Bardet-Biedl Patients with Two Mutations at a Second BBS Locus Human Molecular Genetics. Jul, 2003 | Pubmed ID: 12837689 Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome American Journal of Human Genetics. May, 2003 | Pubmed ID: 12677556 Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2 American Journal of Human Genetics. Mar, 2003 | Pubmed ID: 12567324 A Computational/functional Genomics Approach for the Enrichment of the Retinal Transcriptome and the Identification of Positional Candidate Retinopathy Genes Proceedings of the National Academy of Sciences of the United States of America. Oct, 2002 | Pubmed ID: 12391299 Beyond Mendel: an Evolving View of Human Genetic Disease Transmission Nature Reviews. Genetics. Oct, 2002 | Pubmed ID: 12360236 BBS4 is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance American Journal of Human Genetics. Jul, 2002 | Pubmed ID: 12016587 Newfoundland Rod-cone Dystrophy, an Early-onset Retinal Dystrophy, is Caused by Splice-junction Mutations in RLBP1 American Journal of Human Genetics. Apr, 2002 | Pubmed ID: 11868161 בדוגמנות Vivo של הגנום האנושי החולנית באמצעות Danio rerio Adrienne R. Niederriter1,2, Erica E. Davis1,3, Christelle Golzio1, Edwin C. Oh1, I-Chun Tsai1, Nicholas Katsanis1 1Center for Human Disease Modeling, Department of Cell Biology, Duke University Medical Center, 2Department of Evolutionary Anthropology, Duke University, 3Department of Pediatrics, Duke University Medical Center JoVE 50338 Biology
בדוגמנות Vivo של הגנום האנושי החולנית באמצעות Danio rerio Adrienne R. Niederriter1,2, Erica E. Davis1,3, Christelle Golzio1, Edwin C. Oh1, I-Chun Tsai1, Nicholas Katsanis1 1Center for Human Disease Modeling, Department of Cell Biology, Duke University Medical Center, 2Department of Evolutionary Anthropology, Duke University, 3Department of Pediatrics, Duke University Medical Center JoVE 50338 Biology