Center for Human Disease Modeling,
Department of Cell Biology,
Center for Human Disease Modeling, Department of Cell Biology
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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
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
Beyond Mendel: an evolving view of human genetic disease transmission.
Nature reviews. Genetics Oct, 2002 | Pubmed ID: 12360236
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
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
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
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
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.
Nature Oct, 2003 | Pubmed ID: 14520415
The oligogenic properties of Bardet-Biedl syndrome.
Human molecular genetics Apr, 2004 | Pubmed ID: 14976158
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
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.
Cell May, 2004 | Pubmed ID: 15137946
Triallelic inheritance: a bridge between Mendelian and multifactorial traits.
Annals of medicine , 2004 | Pubmed ID: 15224652
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
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 BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.
Nature genetics Sep, 2004 | Pubmed ID: 15322545
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
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
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
Nature genetics Mar, 2005 | Pubmed ID: 15731757
The centrosome in human genetic disease.
Nature reviews. Genetics Mar, 2005 | Pubmed ID: 15738963
A manually curated functional annotation of the human X chromosome.
Nature genetics Apr, 2005 | Pubmed ID: 15800640
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
Nature genetics Oct, 2005 | Pubmed ID: 16170314
Small molecule intervention in microtubule-associated human disease.
Human molecular genetics Oct, 2005 | Pubmed ID: 16244328
Dissection of epistasis in oligogenic Bardet-Biedl syndrome.
Nature Jan, 2006 | Pubmed ID: 16327777
Ciliary proteins and exencephaly.
Nature genetics Feb, 2006 | Pubmed ID: 16444248
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
Nature genetics May, 2006 | Pubmed ID: 16582908
The ciliopathies: an emerging class of human genetic disorders.
Annual review of genomics and human genetics , 2006 | Pubmed ID: 16722803
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.
Human genetics Sep, 2006 | Pubmed ID: 16794820
Life without centrioles: cilia in the spotlight.
Cell Jun, 2006 | Pubmed ID: 16814708
The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle.
Developmental cell Jul, 2006 | Pubmed ID: 16824949
The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia.
Nature genetics Sep, 2006 | Pubmed ID: 16940995
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 Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
Human molecular genetics Jan, 2007 | Pubmed ID: 17185389
An age-old problem.
PLoS genetics Feb, 2007 | Pubmed ID: 17319751
Bardet-Biedl Syndrome in an African-American patient: should the diagnostic criteria be expanded to include hydrometrocolpos?
Ophthalmic genetics Jun, 2007 | Pubmed ID: 17558852
Cell polarization defects in early heart development.
Circulation research Jul, 2007 | Pubmed ID: 17641235
Population bottlenecks as a potential major shaping force of human genome architecture.
PLoS genetics Jul, 2007 | Pubmed ID: 17658953
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response.
Nature genetics Nov, 2007 | Pubmed ID: 17906624
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
Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome.
Vision research Dec, 2007 | Pubmed ID: 18022666
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
Nature genetics Apr, 2008 | Pubmed ID: 18327255
An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes.
PLoS genetics Mar, 2008 | Pubmed ID: 18369462
Toll-like receptor 3 and geographic atrophy in age-related macular degeneration.
The New England journal of medicine Oct, 2008 | Pubmed ID: 18753640
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
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
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
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
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.
The Journal of clinical investigation Mar, 2009 | Pubmed ID: 19252258
From association to causality: the new frontier for complex traits.
Genome medicine , 2009 | Pubmed ID: 19341494
The vertebrate primary cilium in development, homeostasis, and disease.
Cell Apr, 2009 | Pubmed ID: 19345185
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Nature genetics Jun, 2009 | Pubmed ID: 19430481
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
Progression of Fuchs corneal dystrophy in a family linked to the FCD1 locus.
Investigative ophthalmology & visual science Dec, 2009 | Pubmed ID: 19608546
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
Thermosensory and mechanosensory perception in human genetic disease.
Human molecular genetics Oct, 2009 | Pubmed ID: 19808790
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
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
Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration.
PLoS genetics Feb, 2010 | Pubmed ID: 20140183
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
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
Functional modules, mutational load and human genetic disease.
Trends in genetics : TIG Apr, 2010 | Pubmed ID: 20226561
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
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
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
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
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
Nature genetics Jul, 2010 | Pubmed ID: 20512146
Pitchfork regulates primary cilia disassembly and left-right asymmetry.
Developmental cell Jul, 2010 | Pubmed ID: 20643351
Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.
Science (New York, N.Y.) Sep, 2010 | Pubmed ID: 20671153
Age-severity relationships in families linked to FCD2 with retroillumination photography.
Investigative ophthalmology & visual science Dec, 2010 | Pubmed ID: 20811064
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
Nature genetics Oct, 2010 | Pubmed ID: 20835237
Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.
Human mutation Nov, 2010 | Pubmed ID: 20848555
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.
American journal of human genetics Oct, 2010 | Pubmed ID: 20850105
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
Human genetics Jan, 2011 | Pubmed ID: 21052717
Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms.
Pediatric nephrology (Berlin, Germany) Aug, 2011 | Pubmed ID: 21113628
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
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
European journal of human genetics : EJHG Apr, 2011 | Pubmed ID: 21157496
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
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Nature genetics Mar, 2011 | Pubmed ID: 21258341
Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry.
Nature cell biology Apr, 2011 | Pubmed ID: 21394081
DISC1-dependent switch from progenitor proliferation to migration in the developing cortex.
Nature May, 2011 | Pubmed ID: 21471969
Ciliopathies.
The New England journal of medicine Apr, 2011 | Pubmed ID: 21506742
Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.
PloS one , 2011 | Pubmed ID: 21533127
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
Nature genetics Jun, 2011 | Pubmed ID: 21552264
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
Investigative ophthalmology & visual science Jul, 2011 | Pubmed ID: 21642631
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
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
Human molecular genetics Sep, 2011 | Pubmed ID: 21665990
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
Nature genetics Aug, 2011 | Pubmed ID: 21725307
Understanding cargo specificity in intraflagellar transport.
The EMBO journal Jul, 2011 | Pubmed ID: 21731048
Disruption of a ciliary B9 protein complex causes Meckel syndrome.
American journal of human genetics Jul, 2011 | Pubmed ID: 21763481
Neuroscience: Imprinting in the brain.
Nature Jul, 2011 | Pubmed ID: 21776070
Zebrafish assays of ciliopathies.
Methods in cell biology , 2011 | Pubmed ID: 21951534
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
Nature genetics Dec, 2011 | Pubmed ID: 22019782
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
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
Cilia in vertebrate development and disease.
Development (Cambridge, England) Feb, 2012 | Pubmed ID: 22223675
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
Science (New York, N.Y.) Feb, 2012 | Pubmed ID: 22282472
Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation.
Journal of cell science Jan, 2012 | Pubmed ID: 22302990
Prevalence and severity of fuchs corneal dystrophy in Tangier Island.
American journal of ophthalmology Jun, 2012 | Pubmed ID: 22321803
Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.
American journal of human genetics Mar, 2012 | Pubmed ID: 22341973
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.
Nature genetics Apr, 2012 | Pubmed ID: 22366786
OTX2 mutations contribute to the otocephaly-dysgnathia complex.
Journal of medical genetics Jun, 2012 | Pubmed ID: 22577225
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
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.
Nature May, 2012 | Pubmed ID: 22596160
The ciliopathies: a transitional model into systems biology of human genetic disease.
Current opinion in genetics & development Jun, 2012 | Pubmed ID: 22632799
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
Ophthalmology Sep, 2012 | Pubmed ID: 22705344
Extremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes.
Molecular vision , 2012 | Pubmed ID: 22815629
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Cell Aug, 2012 | Pubmed ID: 22863007
Endoglin mediates fibronectin/α5β1 integrin and TGF-β pathway crosstalk in endothelial cells.
The EMBO journal Oct, 2012 | Pubmed ID: 22940691
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.
Nature medicine Sep, 2012 | Pubmed ID: 22941275
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
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
Seven new loci associated with age-related macular degeneration.
Nature genetics Apr, 2013 | Pubmed ID: 23455636
Next-generation sequencing of the human olfactory receptors.
Methods in molecular biology (Clifton, N.J.) , 2013 | Pubmed ID: 23585039
Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.
Molecular vision , 2013 | Pubmed ID: 23592912
Mutations in LRRC50 predispose zebrafish and humans to seminomas.
PLoS genetics Apr, 2013 | Pubmed ID: 23599692
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
The New England journal of medicine May, 2013 | Pubmed ID: 23656588
Molecular genetic testing and the future of clinical genomics.
Nature reviews. Genetics Jun, 2013 | Pubmed ID: 23681062
A functional variant in the CFI gene confers a high risk of age-related macular degeneration.
Nature genetics Jul, 2013 | Pubmed ID: 23685748
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
Genetic architecture of reciprocal CNVs.
Current opinion in genetics & development Jun, 2013 | Pubmed ID: 23747035
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
ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry.
American journal of human genetics Jul, 2013 | Pubmed ID: 23849778
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