Nicholas Katsanis

Center for Human Disease Modeling, Duke University Medical Center

Affiliated withDuke University Medical Center

Research Area

Biology

Biography

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JoVE Journal Publications

Article Total : 1	Year
Publication title	2013

Other Publications

Article	Year
Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. American journal of human genetics\| PubMed ID: 11868161	2002
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. American journal of human genetics\| PubMed ID: 12016587	2002
Beyond Mendel: an evolving view of human genetic disease transmission. Nature reviews. Genetics\| PubMed ID: 12360236	2002
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\| PubMed ID: 12391299	2002
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. American journal of human genetics\| PubMed ID: 12567324	2003
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. American journal of human genetics\| PubMed ID: 12677556	2003
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\| PubMed ID: 12837689	2003
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature\| PubMed ID: 14520415	2003
The oligogenic properties of Bardet-Biedl syndrome. Human molecular genetics\| PubMed ID: 14976158	2004
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Nature genetics\| PubMed ID: 15107855	2004
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell\| PubMed ID: 15137946	2004
Triallelic inheritance: a bridge between Mendelian and multifactorial traits. Annals of medicine\| PubMed ID: 15224652	2004
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes & development\| PubMed ID: 15231740	2004
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Nature genetics\| PubMed ID: 15314642	2004
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nature genetics\| PubMed ID: 15322545	2004
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\| PubMed ID: 15637713	2005
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\| PubMed ID: 15731008	2005
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nature genetics\| PubMed ID: 15731757	2005
The centrosome in human genetic disease. Nature reviews. Genetics\| PubMed ID: 15738963	2005
A manually curated functional annotation of the human X chromosome. Nature genetics\| PubMed ID: 15800640	2005
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nature genetics\| PubMed ID: 16170314	2005
Small molecule intervention in microtubule-associated human disease. Human molecular genetics\| PubMed ID: 16244328	2005
Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature\| PubMed ID: 16327777	2006
Ciliary proteins and exencephaly. Nature genetics\| PubMed ID: 16444248	2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nature genetics\| PubMed ID: 16582908	2006
The ciliopathies: an emerging class of human genetic disorders. Annual review of genomics and human genetics\| PubMed ID: 16722803	2006
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. Human genetics\| PubMed ID: 16794820	2006
Life without centrioles: cilia in the spotlight. Cell\| PubMed ID: 16814708	2006
The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle. Developmental cell\| PubMed ID: 16824949	2006
The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia. Nature genetics\| PubMed ID: 16940995	2006
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\| PubMed ID: 17160889	2007
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Human molecular genetics\| PubMed ID: 17185389	2007
An age-old problem. PLoS genetics\| PubMed ID: 17319751	2007
Bardet-Biedl Syndrome in an African-American patient: should the diagnostic criteria be expanded to include hydrometrocolpos? Ophthalmic genetics\| PubMed ID: 17558852	2007
Cell polarization defects in early heart development. Circulation research\| PubMed ID: 17641235	2007
Population bottlenecks as a potential major shaping force of human genome architecture. PLoS genetics\| PubMed ID: 17658953	2007
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nature genetics\| PubMed ID: 17906624	2007
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\| PubMed ID: 17959775	2007
Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome. Vision research\| PubMed ID: 18022666	2007
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nature genetics\| PubMed ID: 18327255	2008
An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes. PLoS genetics\| PubMed ID: 18369462	2008
Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. The New England journal of medicine\| PubMed ID: 18753640	2008
Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses. Archives of general psychiatry\| PubMed ID: 18762586	2008
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. American journal of human genetics\| PubMed ID: 18950740	2008
Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. Human heredity\| PubMed ID: 19077438	2009
Ciliary function and Wnt signal modulation. Current topics in developmental biology\| PubMed ID: 19147006	2008
Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. Journal of cell science\| PubMed ID: 19208769	2009
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. The Journal of clinical investigation\| PubMed ID: 19252258	2009
From association to causality: the new frontier for complex traits. Genome medicine\| PubMed ID: 19341494	2009
The vertebrate primary cilium in development, homeostasis, and disease. Cell\| PubMed ID: 19345185	2009
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nature genetics\| PubMed ID: 19430481	2009
Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2. Investigative ophthalmology & visual science\| PubMed ID: 19608540	2009
Progression of Fuchs corneal dystrophy in a family linked to the FCD1 locus. Investigative ophthalmology & visual science\| PubMed ID: 19608546	2009
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\| PubMed ID: 19666486	2009
Thermosensory and mechanosensory perception in human genetic disease. Human molecular genetics\| PubMed ID: 19808790	2009
Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network. Investigative ophthalmology & visual science\| PubMed ID: 19959638	2010
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. American journal of human genetics\| PubMed ID: 20036349	2010
Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration. PLoS genetics\| PubMed ID: 20140183	2010
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. The Journal of clinical investigation\| PubMed ID: 20179356	2010
Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling. The Journal of biological chemistry\| PubMed ID: 20207729	2010
Functional modules, mutational load and human genetic disease. Trends in genetics : TIG\| PubMed ID: 20226561	2010
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\| PubMed ID: 20385819	2010
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\| PubMed ID: 20385826	2010
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. American journal of human genetics\| PubMed ID: 20451172	2010
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\| PubMed ID: 20498079	2010
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nature genetics\| PubMed ID: 20512146	2010
Pitchfork regulates primary cilia disassembly and left-right asymmetry. Developmental cell\| PubMed ID: 20643351	2010
Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. Science (New York, N.Y.)\| PubMed ID: 20671153	2010
Age-severity relationships in families linked to FCD2 with retroillumination photography. Investigative ophthalmology & visual science\| PubMed ID: 20811064	2010
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nature genetics\| PubMed ID: 20835237	2010
Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy. Human mutation\| PubMed ID: 20848555	2010
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. American journal of human genetics\| PubMed ID: 20850105	2010
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Human genetics\| PubMed ID: 21052717	2011
Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms. Pediatric nephrology (Berlin, Germany)\| PubMed ID: 21113628	2011
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\| PubMed ID: 21131972	2011
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and AlstrÃ¶m syndrome. European journal of human genetics : EJHG\| PubMed ID: 21157496	2011
Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus. Investigative ophthalmology & visual science\| PubMed ID: 21245398	2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature genetics\| PubMed ID: 21258341	2011
Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry. Nature cell biology\| PubMed ID: 21394081	2011
DISC1-dependent switch from progenitor proliferation to migration in the developing cortex. Nature\| PubMed ID: 21471969	2011
Ciliopathies. The New England journal of medicine\| PubMed ID: 21506742	2011
Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. PloS one\| PubMed ID: 21533127	2011
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nature genetics\| PubMed ID: 21552264	2011
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. Investigative ophthalmology & visual science\| PubMed ID: 21642631	2011
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\| PubMed ID: 21646512	2011
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Human molecular genetics\| PubMed ID: 21665990	2011
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nature genetics\| PubMed ID: 21725307	2011
Understanding cargo specificity in intraflagellar transport. The EMBO journal\| PubMed ID: 21731048	2011
Disruption of a ciliary B9 protein complex causes Meckel syndrome. American journal of human genetics\| PubMed ID: 21763481	2011
Neuroscience: Imprinting in the brain. Nature\| PubMed ID: 21776070	2011
Zebrafish assays of ciliopathies. Methods in cell biology\| PubMed ID: 21951534	2011
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nature genetics\| PubMed ID: 22019782	2011
Ectopic overexpression of Sonic Hedgehog (Shh) induces stromal expansion and metaplasia in the adult murine pancreas. Neoplasia (New York, N.Y.)\| PubMed ID: 22028618	2011
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\| PubMed ID: 22152675	2011
Cilia in vertebrate development and disease. Development (Cambridge, England)\| PubMed ID: 22223675	2012
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science (New York, N.Y.)\| PubMed ID: 22282472	2012
Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation. Journal of cell science\| PubMed ID: 22302990	2012
Prevalence and severity of fuchs corneal dystrophy in Tangier Island. American journal of ophthalmology\| PubMed ID: 22321803	2012
Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. American journal of human genetics\| PubMed ID: 22341973	2012
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nature genetics\| PubMed ID: 22366786	2012
OTX2 mutations contribute to the otocephaly-dysgnathia complex. Journal of medical genetics\| PubMed ID: 22577225	2012
Endoglin regulates PI3-kinase/Akt trafficking and signaling to alter endothelial capillary stability during angiogenesis. Molecular biology of the cell\| PubMed ID: 22593212	2012
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature\| PubMed ID: 22596160	2012
The ciliopathies: a transitional model into systems biology of human genetic disease. Current opinion in genetics & development\| PubMed ID: 22632799	2012
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. Ophthalmology\| PubMed ID: 22705344	2012
Extremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes. Molecular vision\| PubMed ID: 22815629	2012
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell\| PubMed ID: 22863007	2012
Endoglin mediates fibronectin/Î±5Î²1 integrin and TGF-Î² pathway crosstalk in endothelial cells. The EMBO journal\| PubMed ID: 22940691	2012
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nature medicine\| PubMed ID: 22941275	2012
Context-dependent regulation of Wnt signaling through the primary cilium. Journal of the American Society of Nephrology : JASN\| PubMed ID: 23123400	2013
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. American journal of human genetics\| PubMed ID: 23159249	2012
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\| PubMed ID: 23332918	2013
Seven new loci associated with age-related macular degeneration. Nature genetics\| PubMed ID: 23455636	2013
Next-generation sequencing of the human olfactory receptors. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 23585039	2013
Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes. Molecular vision\| PubMed ID: 23592912	2013
Mutations in LRRC50 predispose zebrafish and humans to seminomas. PLoS genetics\| PubMed ID: 23599692	2013
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. The New England journal of medicine\| PubMed ID: 23656588	2013
Molecular genetic testing and the future of clinical genomics. Nature reviews. Genetics\| PubMed ID: 23681062	2013
A functional variant in the CFI gene confers a high risk of age-related macular degeneration. Nature genetics\| PubMed ID: 23685748	2013
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\| PubMed ID: 23727834	2013
Genetic architecture of reciprocal CNVs. Current opinion in genetics & development\| PubMed ID: 23747035	2013
TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities. American journal of human genetics\| PubMed ID: 23810381	2013
ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry. American journal of human genetics\| PubMed ID: 23849778	2013