| review article | Q7318358 |
| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1048662366 |
| P356 | DOI | 10.1038/NRG1727 |
| P698 | PubMed publication ID | 16341073 |
| P50 | author | Edgar A. Otto | Q30348357 |
| P2093 | author name string | Friedhelm Hildebrandt | |
| P2860 | cites work | The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton | Q22253865 |
| The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein | Q24292750 | ||
| Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation | Q24293752 | ||
| Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin | Q24295284 | ||
| Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome | Q24296493 | ||
| PIGEA-14, a novel coiled-coil protein affecting the intracellular distribution of polycystin-2 | Q24296682 | ||
| Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity | Q24297187 | ||
| Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes | Q24300795 | ||
| Proteomic characterization of the human centrosome by protein correlation profiling | Q24301045 | ||
| A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution | Q24305835 | ||
| Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm | Q24305942 | ||
| The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin | Q24307506 | ||
| Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis | Q24310102 | ||
| Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2 | Q24311425 | ||
| ATP-2 interacts with the PLAT domain of LOV-1 and is involved in Caenorhabditis elegans polycystin signaling | Q24316943 | ||
| Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation | Q24317412 | ||
| A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis | Q24324812 | ||
| The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains | Q24336814 | ||
| The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression | Q24337908 | ||
| Inversin forms a complex with catenins and N-cadherin in polarized epithelial cells. | Q24530026 | ||
| Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. | Q24531954 | ||
| Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. | Q24532836 | ||
| Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3) | Q24533582 | ||
| Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria | Q24534179 | ||
| Identification of the gene for oral-facial-digital type I syndrome | Q24536160 | ||
| A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping | Q24539611 | ||
| Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree | Q24540483 | ||
| Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2 | Q24555759 | ||
| Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36 | Q24563846 | ||
| Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport | Q24564553 | ||
| Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice | Q24648390 | ||
| Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy | Q24672705 | ||
| Homozygosity mapping of a third Joubert syndrome locus to 6q23 | Q24675670 | ||
| Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome | Q27919661 | ||
| Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes | Q28119088 | ||
| Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells | Q28140138 | ||
| Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination | Q28188363 | ||
| Biochemical and molecular characterization of diseases linked to motor proteins | Q28209818 | ||
| Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2) | Q28210285 | ||
| A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 | Q28250958 | ||
| Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome | Q28278080 | ||
| PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein | Q28280639 | ||
| Renal effects of Tamm-Horsfall protein (uromodulin) deficiency in mice | Q28291423 | ||
| Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin | Q28292806 | ||
| Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse | Q28504917 | ||
| Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells | Q28505110 | ||
| Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene | Q28507278 | ||
| Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome | Q28509916 | ||
| Progressive kidney degeneration in mice lacking tensin | Q28513644 | ||
| PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2 | Q28585618 | ||
| Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly | Q28585659 | ||
| Bcl-2-deficient mice demonstrate fulminant lymphoid apoptosis, polycystic kidneys, and hypopigmented hair | Q28586758 | ||
| Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome | Q28589433 | ||
| Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene | Q28590359 | ||
| Hedgehog signalling in the mouse requires intraflagellar transport proteins | Q28593010 | ||
| Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella | Q28593253 | ||
| Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse | Q28593460 | ||
| The Caenorhabditis elegans autosomal dominant polycystic kidney disease gene homologs lov-1 and pkd-2 act in the same pathway | Q28611304 | ||
| A map of the interactome network of the metazoan C. elegans | Q29547482 | ||
| Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways | Q29614619 | ||
| Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis | Q29614824 | ||
| The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia | Q29615732 | ||
| Two populations of node monocilia initiate left-right asymmetry in the mouse | Q29617071 | ||
| The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance | Q29620386 | ||
| A proteomic analysis of human cilia: identification of novel components | Q30841923 | ||
| The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome | Q33909988 | ||
| Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome | Q33916592 | ||
| Genome-wide transcriptional analysis of flagellar regeneration in Chlamydomonas reinhardtii identifies orthologs of ciliary disease genes | Q33928536 | ||
| Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. | Q33948913 | ||
| Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder | Q34092150 | ||
| Polycystin-1 activation of c-Jun N-terminal kinase and AP-1 is mediated by heterotrimeric G proteins | Q34120390 | ||
| Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome | Q34138883 | ||
| Genetics and pathogenesis of polycystic kidney disease. | Q34145624 | ||
| Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity | Q34146365 | ||
| Intraflagellar transport and cilia-dependent diseases. | Q34166357 | ||
| OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells | Q34178550 | ||
| Joubert syndrome: a review | Q34241001 | ||
| Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. | Q34341740 | ||
| OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis. | Q34355896 | ||
| Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome | Q34522307 | ||
| Polycystic kidney disease: new understanding in the pathogenesis | Q34548724 | ||
| Tubulogenesis in the developing mammalian kidney | Q34793328 | ||
| Beyond Mendel: an evolving view of human genetic disease transmission | Q34932051 | ||
| Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease | Q34982718 | ||
| The vertebrate primary cilium is a sensory organelle | Q35041118 | ||
| The renal cell primary cilium functions as a flow sensor | Q35200478 | ||
| Establishing a connection between cilia and Bardet-Biedl Syndrome | Q35754967 | ||
| PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). | Q35755781 | ||
| PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats | Q35764727 | ||
| The centrosome in human genetic disease | Q36058438 | ||
| Molecular pathogenesis of ADPKD: the polycystin complex gets complex | Q36075772 | ||
| Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration | Q36322452 | ||
| Positional cloning of jcpk/bpk locus of the mouse | Q38355709 | ||
| Siah-1 interacts with the intracellular region of polycystin-1 and affects its stability via the ubiquitin-proteasome pathway | Q40530152 | ||
| Calcium restriction allows cAMP activation of the B-Raf/ERK pathway, switching cells to a cAMP-dependent growth-stimulated phenotype | Q40533652 | ||
| Beta1-integrins in the primary cilium of MDCK cells potentiate fibronectin-induced Ca2+ signaling | Q40540421 | ||
| Bending the MDCK cell primary cilium increases intracellular calcium | Q40771361 | ||
| Polycystin-1 transforms the cAMP growth-responsive phenotype of M-1 cells | Q40789860 | ||
| Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells | Q40838856 | ||
| The polycystic kidney disease 1 gene product modulates Wnt signaling | Q40973635 | ||
| Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). | Q42691857 | ||
| New Alström syndrome phenotypes based on the evaluation of 182 cases | Q43495083 | ||
| Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle | Q44241922 | ||
| Analysis of xbx genes in C. elegans | Q47069052 | ||
| A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney | Q47074132 | ||
| A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype | Q47816764 | ||
| Cloning of inv, a gene that controls left/right asymmetry and kidney development. | Q48021550 | ||
| The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. | Q48056738 | ||
| Distinguishing the four genetic causes of Jouberts syndrome-related disorders | Q48957209 | ||
| Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype. | Q49105252 | ||
| Medullary cystic kidney disease type 2. | Q49222311 | ||
| Expression and phenotype analysis of the nephrocystin-1 and nephrocystin-4 homologs in Caenorhabditis elegans. | Q50780254 | ||
| Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. | Q52093171 | ||
| Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease. | Q53667326 | ||
| Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations. | Q53879309 | ||
| From cilia to cyst. | Q55036761 | ||
| Polycystic kidney disease: The complete structure of the PKD1 gene and its protein | Q56535688 | ||
| Kinesin Family Member 12 Is a Candidate Polycystic Kidney Disease Modifier in the cpk Mouse | Q57314438 | ||
| Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD) | Q57908853 | ||
| Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in theBBS4Gene | Q58519451 | ||
| Renal abnormalities in mutant mice | Q59054516 | ||
| Taxol inhibits progression of congenital polycystic kidney disease | Q59062062 | ||
| Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1 | Q59416427 | ||
| Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity? | Q69578688 | ||
| Juvenile cystic kidneys (jck): a new mouse mutation which causes polycystic kidneys | Q70758568 | ||
| Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium) | Q71953299 | ||
| Delayed cystogenesis and increased ciliogenesis associated with the re-expression of polaris in Tg737 mutant mice | Q73112291 | ||
| The polycystic kidney disease 1 gene product mediates protein kinase C alpha-dependent and c-Jun N-terminal kinase-dependent activation of the transcription factor AP-1 | Q74299216 | ||
| Somatic inactivation of Pkd2 results in polycystic kidney disease | Q74502174 | ||
| Genetics. The land between Mendelian and multifactorial inheritance | Q74538609 | ||
| Identification of a gene for nephronophthisis | Q74704346 | ||
| Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease | Q76390332 | ||
| Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects | Q77105186 | ||
| Genetic modifiers of polycystic kidney disease in intersubspecific KAT2J mutants | Q77874101 | ||
| Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist | Q79075547 | ||
| Linking cilia to Wnts | Q81695265 | ||
| P433 | issue | 12 | |
| P304 | page(s) | 928-940 | |
| P577 | publication date | 2005-12-01 | |
| P1433 | published in | Nature Reviews Genetics | Q1071824 |
| P1476 | title | Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? | |
| P478 | volume | 6 |
| Q27309265 | A Point Mutation in p190A RhoGAP Affects Ciliogenesis and Leads to Glomerulocystic Kidney Defects |
| Q24682354 | A novel Crumbs3 isoform regulates cell division and ciliogenesis via importin beta interactions |
| Q34539684 | A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome |
| Q41919860 | A novel domain suggests a ciliary function for ASPM, a brain size determining gene |
| Q31085376 | A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8 |
| Q21145017 | A systematic approach to mapping recessive disease genes in individuals from outbred populations |
| Q33646379 | Advances in the pathogenesis and treatment of polycystic kidney disease |
| Q37109279 | An Integrative Review of Mechanotransduction in Endothelial, Epithelial (Renal) and Dendritic Cells (Osteocytes). |
| Q38255292 | An approach to cystic kidney diseases: the clinician's view |
| Q27313933 | An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes |
| Q50025735 | Arl3 and RP2 regulate the trafficking of ciliary tip kinesins |
| Q26996405 | Axonemal positioning and orientation in three-dimensional space for primary cilia: what is known, what is assumed, and what needs clarification |
| Q28506905 | Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia |
| Q38558495 | Bardet-Biedl syndrome: Is it only cilia dysfunction? |
| Q22001530 | Basal body stability and ciliogenesis requires the conserved component Poc1 |
| Q41787735 | CDK inhibitors R-roscovitine and S-CR8 effectively block renal and hepatic cystogenesis in an orthologous model of ADPKD. |
| Q24310530 | CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium |
| Q24676633 | CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders |
| Q26862236 | Cell polarisation and the immunological synapse |
| Q35694638 | Centrin depletion causes cyst formation and other ciliopathy-related phenotypes in zebrafish |
| Q34541509 | Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1. |
| Q37415464 | Centrosomal abnormalities characterize human and rodent cystic cholangiocytes and are associated with Cdc25A overexpression. |
| Q28305398 | Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis |
| Q37435101 | Chapter 3: acquisition of membrane polarity in epithelial tube formation patterns, signaling pathways, molecular mechanisms, and disease. |
| Q34687442 | Childhood course of renal insufficiency in a family with a uromodulin gene mutation |
| Q37317821 | Cholangiociliopathies: genetics, molecular mechanisms and potential therapies |
| Q37372591 | Ciliar functions in the nephron |
| Q51093238 | Ciliary Mechanisms of Cyst Formation in Polycystic Kidney Disease. |
| Q37175323 | Ciliary dysfunction in polycystic kidney disease: an emerging model with polarizing potential |
| Q48668721 | Ciliary proteins and exencephaly |
| Q29614821 | Ciliopathies |
| Q35764547 | Ciliopathies: the central role of cilia in a spectrum of pediatric disorders |
| Q34133175 | Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience |
| Q34020140 | Computational modelling elucidates the mechanism of ciliary regulation in health and disease. |
| Q35655072 | Congenital hepatic fibrosis in autosomal recessive polycystic kidney disease |
| Q36806446 | Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms |
| Q27967664 | Cystin localizes to primary cilia via membrane microdomains and a targeting motif |
| Q34735000 | Defects in ciliary localization of Nek8 is associated with cystogenesis. |
| Q36505469 | Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease |
| Q90088885 | Disease Modeling To Understand the Pathomechanisms of Human Genetic Kidney Disorders |
| Q50286581 | EGF receptor kinase suppresses ciliogenesis through activation of USP8 deubiquitinase. |
| Q55738668 | Early presentation of cystic kidneys in a family with a homozygousINVSmutation |
| Q47437137 | Ectopic Phosphorylated Creb Marks Dedifferentiated Proximal Tubules in Cystic Kidney Disease |
| Q28118131 | Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex |
| Q24310078 | Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins |
| Q36631120 | Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis |
| Q90655817 | Functions and dysfunctions of the mammalian centrosome in health, disorders, disease, and aging |
| Q43406365 | Gene mutation analysis in Iranian children with nephronophthisis: a two-center study |
| Q33968487 | Genetic kidney diseases |
| Q38155839 | Genetics and the nephron |
| Q41238162 | Genetics of kidney development: pathogenesis of renal anomalies |
| Q50000205 | Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model. |
| Q36651169 | Human ADPKD primary cyst epithelial cells with a novel, single codon deletion in the PKD1 gene exhibit defective ciliary polycystin localization and loss of flow-induced Ca2+ signaling. |
| Q34431996 | Hypertension in Autosomal Dominant Polycystic Kidney Disease: A Clinical and Basic Science Perspective |
| Q36023714 | Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons |
| Q35269398 | IFT46 plays an essential role in cilia development |
| Q36277070 | Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy |
| Q38439569 | Identification of FOXJ1 effectors during ciliogenesis in the foetal respiratory epithelium and embryonic left-right organiser of the mouse |
| Q40015719 | Identification of ciliary localization sequences within the third intracellular loop of G protein-coupled receptors |
| Q33759877 | Imbalance between IL-17A-producing cells and regulatory T cells during ischemic stroke. |
| Q37111966 | Impaired IGF1-GH axis and new therapeutic options in Alström Syndrome patients: a case series |
| Q46753643 | Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas |
| Q37050915 | Inversin modulates the cortical actin network during mitosis |
| Q57200216 | Is ciliary Hedgehog signalling dispensable in the kidneys? |
| Q24314517 | Jouberin localizes to collecting ducts and interacts with nephrocystin-1 |
| Q33947853 | Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway |
| Q34436755 | Kidney: polycystic kidney disease. |
| Q28513727 | Knockdown of ttc26 disrupts ciliogenesis of the photoreceptor cells and the pronephros in zebrafish |
| Q51953017 | Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease. |
| Q28586772 | Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis |
| Q24315070 | Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia |
| Q24302034 | Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways |
| Q24634201 | Mechanisms of Nephronophthisis and Related Ciliopathies |
| Q33395144 | Microarray-based approach identifies microRNAs and their target functional patterns in polycystic kidney disease |
| Q28589546 | Midbody and primary cilium of neural progenitors release extracellular membrane particles enriched in the stem cell marker prominin-1 |
| Q27025216 | Molecular pathways regulating mitotic spindle orientation in animal cells |
| Q28114957 | Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP). |
| Q38295404 | Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing |
| Q37552382 | Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy |
| Q57200230 | Mutational analysis in 119 families with nephronophthisis |
| Q28239026 | Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome |
| Q57908821 | Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome |
| Q24306642 | NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis |
| Q79799378 | Nephrocystin and ciliary defects not only in the kidney? |
| Q24601139 | Nephronophthisis |
| Q84587590 | Nephronophthisis |
| Q28081939 | Nephronophthisis and related syndromes |
| Q52653183 | Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-Løken syndrome? |
| Q46823391 | Nephronophthisis complicated with hepatic fibrosis: an autopsy case with rupture of the splenic artery after renal transplantation. |
| Q48450633 | Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association |
| Q41908151 | Nephronophthisis: a genetically diverse ciliopathy |
| Q33594278 | Nephronophthisis: disease mechanisms of a ciliopathy |
| Q38856011 | Origins of the cytolytic synapse |
| Q57987559 | Orphan Kidney Diseases |
| Q48526682 | Outcome of kidney transplantation in type I oral-facial-digital syndrome. |
| Q41643474 | Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation. |
| Q33615110 | Pericentrin in cellular function and disease |
| Q37829931 | Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney |
| Q26778955 | Photoreceptor Sensory Cilium: Traversing the Ciliary Gate |
| Q38052130 | Planar cell polarity signaling: coordination of cellular orientation across tissues |
| Q28749129 | Planar cell polarity signaling: from fly development to human disease |
| Q33483340 | Polycystic kidney disease in the medaka (Oryzias latipes) pc mutant caused by a mutation in the Gli-Similar3 (glis3) gene. |
| Q34544069 | Polycystic kidney disease: cell division without a c(l)ue? |
| Q34194508 | Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment |
| Q36988173 | Polycystic kidney diseases: from molecular discoveries to targeted therapeutic strategies |
| Q37772076 | Polycystins and renovascular mechanosensory transduction |
| Q34961094 | Population genomic analysis of ALMS1 in humans reveals a surprisingly complex evolutionary history |
| Q37994180 | Primary cilia: highly sophisticated biological sensors |
| Q48332025 | Protective cardiorenal effects of spironolactone in a rodent model of polycystic kidney disease |
| Q35929079 | Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion |
| Q36299499 | RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction |
| Q41333751 | Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype |
| Q38978449 | Recent Trends in ADPKD Research |
| Q36528595 | Renal cystic diseases: diverse phenotypes converge on the cilium/centrosome complex |
| Q37400584 | Renal involvement in tuberous sclerosis complex and von Hippel-Lindau disease: shared disease mechanisms? |
| Q97587570 | Ribosome profiling reveals a functional role for autophagy in mRNA translational control |
| Q42556886 | Role of extracellular ATP and P2 receptor signaling in regulating renal cyst growth and interstitial inflammation in polycystic kidney disease |
| Q35072790 | Sensory roles of neuronal cilia: cilia development, morphogenesis, and function in C. elegans |
| Q24294715 | Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations |
| Q37419990 | Six2creFrs2α knockout mice are a novel model of renal cystogenesis |
| Q90451238 | Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease |
| Q27024881 | Spectrum of clinical diseases caused by disorders of primary cilia |
| Q35845360 | Stem cells and fluid flow drive cyst formation in an invertebrate excretory organ |
| Q37223757 | Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy |
| Q28571736 | Targeting of beta-arrestin2 to the centrosome and primary cilium: role in cell proliferation control |
| Q57243913 | The Expanding Joubert Spectrum |
| Q50026055 | The HIF and other quandaries in VHL disease |
| Q30850728 | The Light Intermediate Chain 2 Subpopulation of Dynein Regulates Mitotic Spindle Orientation |
| Q24337819 | The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation |
| Q30505167 | The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis |
| Q29147515 | The cAMP Signaling Pathway and Direct Protein Kinase A Phosphorylation Regulate Polycystin-2 (TRPP2) Channel Function |
| Q24336477 | The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 |
| Q30499405 | The cilia protein IFT88 is required for spindle orientation in mitosis |
| Q37276781 | The diagnostic value of ultrasound in cystic kidney diseases. |
| Q37741696 | The immunological synapse: a focal point for endocytosis and exocytosis |
| Q36951820 | The retinal ciliopathies. |
| Q24297630 | The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium |
| Q27026481 | The role of the cilium in normal and abnormal cell cycles: emphasis on renal cystic pathologies |
| Q37899288 | The significant role of centrosomes in stem cell division and differentiation |
| Q28073873 | Type 3 adenylyl cyclase: a key enzyme mediating the cAMP signaling in neuronal cilia |
| Q46959770 | Type III adenylyl cyclase localizes to primary cilia throughout the adult mouse brain |
| Q24300384 | Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression |
| Q60920671 | Using zebrafish to study the function of nephronophthisis and related ciliopathy genes |
| Q29547198 | When cilia go bad: cilia defects and ciliopathies |
| Q55689509 | Zebrafish as a Model for Drug Screening in Genetic Kidney Diseases. |
Search more.