The nonmotile ciliopathies (Q27967648)

PubMed

PubMed publication ID

12 December 2016

1 reference

Europe PubMed Central

title

The nonmotile ciliopathies (English)

1 reference

Role of primary cilia in the pathogenesis of polycystic kidney disease

PubMed

PubMed publication ID

12 December 2016

Jonathan L Tobin

1

0 references

Philip L Beales

0 references

language of work or name

English

0 references

publication date

June 2009

0 references

1 reference

11

0 references

page(s)

386-402

0 references

cites work

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Polycystic kidney disease: cell division without a c(l)ue?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Nephronophthisis-associated ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Identification of ciliary localization sequences within the third intracellular loop of G protein-coupled receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Urographic findings in the Bardet-Biedl syndrome, formerly the Laurence-Moon-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Alstrom syndrome (OMIM 203800): a case report and literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Proteomic characterization of the human centrosome by protein correlation profiling

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Alms1-disrupted mice recapitulate human Alström syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Fat aussie--a new Alström syndrome mouse showing a critical role for ALMS1 in obesity, diabetes, and spermatogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

The Meckel syndrome: clinicopathological findings in 67 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Genetic basis of Joubert syndrome and related disorders of cerebellar development

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Analysis of mouse embryonic patterning and morphogenesis by forward genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

The graded response to Sonic Hedgehog depends on cilia architecture

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Ellis-van Creveld syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Identification of the gene for oral-facial-digital type I syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Fine structure of mammalian renal cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

21 January 2018

Intraflagellar transport

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

The Oak Ridge Polycystic Kidney mouse: modeling ciliopathies of mice and men

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Hedgehog signalling in the mouse requires intraflagellar transport proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Vertebrate Smoothened functions at the primary cilium

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Patched1 regulates hedgehog signaling at the primary cilium

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Ftm is a novel basal body protein of cilia involved in Shh signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Defective planar cell polarity in polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Dishevelled controls apical docking and planar polarization of basal bodies in ciliated epithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

How flies get their size: genetics meets physiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Ciliary syndromes and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Cilia are at the heart of vertebrate left-right asymmetry

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

FGF-induced vesicular release of Sonic hedgehog and retinoic acid in leftward nodal flow is critical for left-right determination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Two populations of node monocilia initiate left-right asymmetry in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

The left-right determinant Inversin is a component of node monocilia and other 9+0 cilia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Regulation of primary cilia formation and left-right patterning in zebrafish by a noncanonical Wnt signaling mediator, duboraya

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Effect of gene therapy on visual function in Leber's congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Conditional Kif3a ablation causes abnormal hedgehog signaling topography, growth plate dysfunction, and excessive bone and cartilage formation during mouse skeletogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Intraflagellar transport is essential for endochondral bone formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Transplanting the enteric nervous system: a step closer to treatment for aganglionosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Does Bardet-Biedl syndrome have a characteristic face?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Mutations in MKKS cause Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Evidence of Oligogenic Inheritance in Nephronophthisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Screening of the eight BBS genes in Tunisian families: no evidence of triallelism

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

The intraflagellar transport protein IFT20 is associated with the Golgi complex and is required for cilia assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Analysis of xbx genes in C. elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Jouberin localizes to collecting ducts and interacts with nephrocystin-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Functional coordination of intraflagellar transport motors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Conserved left-right asymmetry of nodal expression and alterations in murine situs inversus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Cloning of inv, a gene that controls left/right asymmetry and kidney development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Restoration of renal function in zebrafish models of ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882

Mouse Rab23 regulates hedgehog signaling from smoothened to Gli proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A02882