| P2093 | author name string | Nicholas Katsanis | |
| | Brunella Franco | |
| P2860 | cites work | Canonical WNT/beta-catenin signaling is required for ureteric branching. | Q51961403 |
| | Differences in renal tubule primary cilia length in a mouse model of Bardet-Biedl syndrome. | Q53551189 |
| | Fibrocystic disease of liver and pancreas; under‐recognized features of the X‐linked ciliopathy oral‐facial‐digital syndrome type 1 (OFD I) | Q55053395 |
| | GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome | Q55670535 |
| | A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance | Q56592902 |
| | Oral–facial–digital syndromes: Review and diagnostic guidelines | Q58327644 |
| | Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function | Q21145277 |
| | The Ciliopathies: An Emerging Class of Human Genetic Disorders | Q22337032 |
| | TCTN3 mutations cause Mohr-Majewski syndrome | Q24295300 |
| | Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome | Q24296493 |
| | Dissection of epistasis in oligogenic Bardet-Biedl syndrome | Q24297989 |
| | BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response | Q24298309 |
| | Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy | Q24299464 |
| | Wnt-4 activates the canonical beta-catenin-mediated Wnt pathway and binds Frizzled-6 CRD: functional implications of Wnt/beta-catenin activity in kidney epithelial cells | Q24299786 |
| | BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes | Q24301377 |
| | Ofd1, a human disease gene, regulates the length and distal structure of centrioles | Q24303311 |
| | Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics | Q24305196 |
| | A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies | Q24309499 |
| | A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis | Q24311615 |
| | Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling | Q24317488 |
| | OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin | Q24320320 |
| | The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression | Q24337908 |
| | Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families | Q24517923 |
| | Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. | Q24531954 |
| | Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome | Q24532021 |
| | Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport | Q24532051 |
| | Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3) | Q24533582 |
| | Identification of the gene for oral-facial-digital type I syndrome | Q24536160 |
| | Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene | Q24538328 |
| | Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11) | Q24546392 |
| | Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes | Q24625476 |
| | Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome | Q24652543 |
| | Defective planar cell polarity in polycystic kidney disease | Q46845250 |
| | Cystic kidney gene seahorse regulates cilia-mediated processes and Wnt pathways | Q47073543 |
| | Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. | Q51792855 |
| | Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease. | Q51953017 |
| | Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study | Q24655227 |
| | Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome | Q24680972 |
| | Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform | Q27347938 |
| | Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome | Q27919661 |
| | Sensory ciliogenesis in Caenorhabditis elegans: assignment of IFT components into distinct modules based on transport and phenotypic profiles | Q27919709 |
| | Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex | Q28118131 |
| | Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2) | Q28210285 |
| | Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin | Q28292806 |
| | Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population | Q28296930 |
| | Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity | Q28505984 |
| | Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates | Q28506652 |
| | Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome | Q28509916 |
| | A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity | Q28513461 |
| | Glycogen synthase kinase-3 inactivation and stabilization of beta-catenin induce nephron differentiation in isolated mouse and rat kidney mesenchymes | Q28584354 |
| | Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly | Q28585659 |
| | Ftm is a novel basal body protein of cilia involved in Shh signalling | Q28588966 |
| | Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene | Q28590359 |
| | Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification | Q28591588 |
| | Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting | Q28591892 |
| | Deletion of IFT20 in the mouse kidney causes misorientation of the mitotic spindle and cystic kidney disease | Q28592609 |
| | Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse | Q28593460 |
| | Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis | Q28595018 |
| | Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms | Q29614613 |
| | Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways | Q29614619 |
| | Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome | Q29615746 |
| | Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response | Q29617051 |
| | A male with type I orofaciodigital syndrome | Q33597617 |
| | Regulation of Fto/Ftm gene expression in mice and humans | Q33599999 |
| | Orofaciodigital syndrome, type I: a phenotypic and genetic analysis | Q33790003 |
| | Reduced Notch signaling leads to renal cysts and papillary microadenomas | Q33834308 |
| | Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability | Q33872321 |
| | Mutations in MKKS cause Bardet-Biedl syndrome | Q33916574 |
| | Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome | Q33916592 |
| | Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome | Q33938671 |
| | Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder | Q34092150 |
| | KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes | Q34183496 |
| | Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. | Q34246303 |
| | Of mice and men: dissecting the genetic pathway that controls left-right asymmetry in mice and humans | Q34263589 |
| | A new Cre driver mouse line, Tcf21/Pod1-Cre, targets metanephric mesenchyme | Q34336506 |
| | OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis. | Q34355896 |
| | MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis | Q34397616 |
| | Exploring the molecular basis of Bardet-Biedl syndrome | Q34416734 |
| | The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. | Q34431885 |
| | BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus | Q34508395 |
| | A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome | Q34539684 |
| | Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome | Q34636894 |
| | The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome | Q34679496 |
| | TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum | Q34764702 |
| | Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia. | Q35148415 |
| | The oligogenic properties of Bardet-Biedl syndrome | Q35672039 |
| | Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23) | Q36122430 |
| | Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. | Q36433141 |
| | X-inactivation and human disease: X-linked dominant male-lethal disorders | Q36464858 |
| | Bardet-Biedl syndrome: beyond the cilium. | Q36759366 |
| | Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy | Q37111349 |
| | Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease | Q37310662 |
| | Making sense of cilia in disease: the human ciliopathies. | Q37624563 |
| | The molecular basis of oral-facial-digital syndrome, type 1. | Q37624566 |
| | Prospects for mTOR inhibitor use in patients with polycystic kidney disease and hamartomatous diseases | Q37760379 |
| | Prader–Willi syndrome and Angelman syndrome | Q37783981 |
| | X-linked dominant inherited diseases with lethality in hemizygous males | Q39109681 |
| | Oral-facial-digital syndrome type I in a newborn male | Q39414560 |
| | Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts | Q39688450 |
| | Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients | Q39849276 |
| | Restoration of renal function in zebrafish models of ciliopathies | Q39852315 |
| | Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing | Q39863239 |
| | Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. | Q39903409 |
| | Ofd1 is required in limb bud patterning and endochondral bone development | Q39953506 |
| | Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients | Q40033427 |
| P304 | page(s) | 90-112 | |
| P577 | publication date | 2013-03-01 | |
| P1476 | title | The Bardet–Biedl and orofacial digital type 1 ciliopathies | |