List of works - Nicholas Katsanis

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

scientific article

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis

scientific article

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

scientific article

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus

scientific article

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

scientific article (publication date: 23 May 2013)

Cilia in vertebrate development and disease

scientific article

Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

scientific article

The ciliopathies: a transitional model into systems biology of human genetic disease

scientific article

Disruption of a ciliary B9 protein complex causes Meckel syndrome

scientific journal article

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

scientific article

A functional variant in the CFI gene confers a high risk of age-related macular degeneration

scientific article published on 19 May 2013

Paralogy mapping: identification of a region in the human MHC triplicated onto human chromosomes 1 and 9 allows the prediction and isolation of novel PBX and NOTCH loci

scientific article

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes

scientific article

Pitchfork regulates primary cilia disassembly and left-right asymmetry

scientific article

Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy

scientific article published on 16 February 2012

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

scientific article

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

scientific article

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

scientific article

The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle

scientific article published on July 2006

A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa

scientific article published on 14 May 2010

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

scientific article published on 17 January 2013

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity

scientific journal article

Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy

scientific article

Functional modules, mutational load and human genetic disease

scientific article published on 11 March 2010

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

scientific article published on 16 September 2013

Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome

scientific article

Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling

scientific article

Loss of δ-catenin function in severe autism

scientific article

Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting

scientific journal article

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins

scientific article published in March 2009

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

scientific article published on 23 February 2010

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration

scientific article

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model

scientific article

Epigenetic control of intestinal barrier function and inflammation in zebrafish

scientific article

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

scientific article

Endoglin mediates fibronectin/α5β1 integrin and TGF-β pathway crosstalk in endothelial cells

scientific article

Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci

scientific article

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

scientific article

Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy

scientific article

Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators

scientific article published on April 2014

Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes

scientific journal article

Context-dependent regulation of Wnt signaling through the primary cilium

scientific article

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

scientific article

Ciliary function and Wnt signal modulation

scientific article published on January 2008

Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus

scientific article

Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function

scientific article

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

scientific article

Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2.

scientific article published on 15 July 2009

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

scientific article

List of works by Nicholas Katsanis

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

Cilia in vertebrate development and disease

Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

The ciliopathies: a transitional model into systems biology of human genetic disease

Disruption of a ciliary B9 protein complex causes Meckel syndrome

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

A functional variant in the CFI gene confers a high risk of age-related macular degeneration

Paralogy mapping: identification of a region in the human MHC triplicated onto human chromosomes 1 and 9 allows the prediction and isolation of novel PBX and NOTCH loci

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes

Pitchfork regulates primary cilia disassembly and left-right asymmetry

Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle

A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity

Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy

Functional modules, mutational load and human genetic disease

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome

Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling

Loss of δ-catenin function in severe autism

Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model

Epigenetic control of intestinal barrier function and inflammation in zebrafish

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

Endoglin mediates fibronectin/α5β1 integrin and TGF-β pathway crosstalk in endothelial cells

Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy

Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators

Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes

Context-dependent regulation of Wnt signaling through the primary cilium

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Ciliary function and Wnt signal modulation

Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus

Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2.

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies