(Q36337939)

13 August 2017

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title

Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? (English)

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13 August 2017

2

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13 August 2017

Friedhelm Hildebrandt

series ordinal

1

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13 August 2017

1 December 2005

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13 August 2017

Nature Reviews Genetics

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13 August 2017

6

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13 August 2017

928-940

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13 August 2017

12

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https://scigraph.springernature.com/pub.10.1038/nrg1727

13 August 2017

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cites work

Polycystic kidney disease: The complete structure of the PKD1 gene and its protein

1 reference

Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in theBBS4Gene

21 January 2018

1 reference

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

21 January 2018

1 reference

The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

31 March 2020

1 reference

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

31 March 2020

1 reference

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)

31 March 2020

1 reference

PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2

31 March 2020

1 reference

Polycystic kidney disease: new understanding in the pathogenesis

31 March 2020

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Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice.

31 March 2020

1 reference

Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella

31 March 2020

1 reference

The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia

31 March 2020

1 reference

Genetics and pathogenesis of polycystic kidney disease.

31 March 2020

1 reference

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

31 March 2020

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31 March 2020

1 reference

Beyond Mendel: an evolving view of human genetic disease transmission

31 March 2020

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Genetics. The land between Mendelian and multifactorial inheritance

31 March 2020

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

31 March 2020

1 reference

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

31 March 2020

1 reference

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

31 March 2020

1 reference

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

31 March 2020

1 reference

The centrosome in human genetic disease

31 March 2020

1 reference

The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.

31 March 2020

1 reference

Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1

31 March 2020

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Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.

31 March 2020

1 reference

Somatic inactivation of Pkd2 results in polycystic kidney disease

31 March 2020

1 reference

Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation

31 March 2020

1 reference

Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects

31 March 2020

1 reference

The polycystic kidney disease 1 gene product modulates Wnt signaling

31 March 2020

1 reference

A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype.

31 March 2020

1 reference

Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene

31 March 2020

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Molecular pathogenesis of ADPKD: the polycystin complex gets complex

31 March 2020

1 reference

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

31 March 2020

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PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

31 March 2020

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Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

31 March 2020

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The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

31 March 2020

1 reference

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

31 March 2020

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Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm

31 March 2020

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Polycystin-1 transforms the cAMP growth-responsive phenotype of M-1 cells

31 March 2020

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Calcium restriction allows cAMP activation of the B-Raf/ERK pathway, switching cells to a cAMP-dependent growth-stimulated phenotype

31 March 2020

1 reference

Bcl-2-deficient mice demonstrate fulminant lymphoid apoptosis, polycystic kidneys, and hypopigmented hair

31 March 2020

1 reference

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis

31 March 2020

1 reference

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

31 March 2020

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Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2

31 March 2020

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Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells

31 March 2020

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Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity

31 March 2020

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Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes

31 March 2020

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Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?

31 March 2020

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A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping

31 March 2020

1 reference

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

31 March 2020

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Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse

31 March 2020

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Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

31 March 2020

1 reference

Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree

31 March 2020

1 reference

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36

31 March 2020

1 reference

Joubert syndrome: a review

31 March 2020

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Distinguishing the four genetic causes of Jouberts syndrome-related disorders.

31 March 2020

1 reference

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

31 March 2020

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The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome

31 March 2020

1 reference

Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity

31 March 2020

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Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

31 March 2020

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Homozygosity mapping of a third Joubert syndrome locus to 6q23

31 March 2020

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Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.

31 March 2020

1 reference

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

31 March 2020

1 reference

Establishing a connection between cilia and Bardet-Biedl Syndrome

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

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Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

31 March 2020

1 reference

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

31 March 2020

1 reference

New Alström syndrome phenotypes based on the evaluation of 182 cases

31 March 2020

1 reference

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

31 March 2020

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Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

31 March 2020

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Proteomic characterization of the human centrosome by protein correlation profiling

31 March 2020

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

31 March 2020

1 reference

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

31 March 2020

1 reference

OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

31 March 2020

1 reference

Expression and phenotype analysis of the nephrocystin-1 and nephrocystin-4 homologs in Caenorhabditis elegans.

31 March 2020

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

31 March 2020

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The Caenorhabditis elegans autosomal dominant polycystic kidney disease gene homologs lov-1 and pkd-2 act in the same pathway

31 March 2020

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Analysis of xbx genes in C. elegans.

31 March 2020

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

31 March 2020

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Bending the MDCK cell primary cilium increases intracellular calcium

31 March 2020

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Beta1-integrins in the primary cilium of MDCK cells potentiate fibronectin-induced Ca2+ signaling

31 March 2020

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The renal cell primary cilium functions as a flow sensor

31 March 2020

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Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease

31 March 2020

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Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis

31 March 2020

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Delayed cystogenesis and increased ciliogenesis associated with the re-expression of polaris in Tg737 mutant mice

31 March 2020

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Identification of a gene for nephronophthisis

31 March 2020

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Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells

31 March 2020

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

31 March 2020

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31 March 2020

Linking cilia to Wnts

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Inversin forms a complex with catenins and N-cadherin in polarized epithelial cells.

31 March 2020

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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

31 March 2020

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Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2

31 March 2020

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Polycystin-1 activation of c-Jun N-terminal kinase and AP-1 is mediated by heterotrimeric G proteins

31 March 2020

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Tubulogenesis in the developing mammalian kidney

31 March 2020

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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

31 March 2020

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

31 March 2020

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

31 March 2020

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Intraflagellar transport and cilia-dependent diseases.

31 March 2020

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

31 March 2020

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Biochemical and molecular characterization of diseases linked to motor proteins

31 March 2020

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Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration

31 March 2020

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Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

31 March 2020

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

31 March 2020

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Kinesin Family Member 12 Is a Candidate Polycystic Kidney Disease Modifier in the cpk Mouse

31 March 2020

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The vertebrate primary cilium is a sensory organelle

31 March 2020

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Genome-wide transcriptional analysis of flagellar regeneration in Chlamydomonas reinhardtii identifies orthologs of ciliary disease genes

31 March 2020

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A proteomic analysis of human cilia: identification of novel components

31 March 2020

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A map of the interactome network of the metazoan C. elegans

31 March 2020

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Taxol inhibits progression of congenital polycystic kidney disease

31 March 2020

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Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist

31 March 2020

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Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease

31 March 2020

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ATP-2 interacts with the PLAT domain of LOV-1 and is involved in Caenorhabditis elegans polycystin signaling

31 March 2020

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Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation

31 March 2020

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Siah-1 interacts with the intracellular region of polycystin-1 and affects its stability via the ubiquitin-proteasome pathway

31 March 2020

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The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton

31 March 2020

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PIGEA-14, a novel coiled-coil protein affecting the intracellular distribution of polycystin-2

31 March 2020

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Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy

31 March 2020

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

31 March 2020

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Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

31 March 2020

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

31 March 2020

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

31 March 2020

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

31 March 2020

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OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells

31 March 2020

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Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease.

31 March 2020

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

31 March 2020

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Medullary cystic kidney disease type 2.

31 March 2020

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Renal effects of Tamm-Horsfall protein (uromodulin) deficiency in mice

31 March 2020

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

31 March 2020

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Juvenile cystic kidneys (jck): a new mouse mutation which causes polycystic kidneys

31 March 2020

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Positional cloning of jcpk/bpk locus of the mouse

31 March 2020

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Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice

31 March 2020

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Genetic modifiers of polycystic kidney disease in intersubspecific KAT2J mutants

31 March 2020

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Hedgehog signalling in the mouse requires intraflagellar transport proteins

31 March 2020

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Progressive kidney degeneration in mice lacking tensin

31 March 2020

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Renal abnormalities in mutant mice

31 March 2020

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The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance

31 March 2020

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31 March 2020

Identifiers

DOI

10.1038/NRG1727

1 reference

PubMed ID

16341073

Dimensions Publication ID

13 August 2017

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1 reference

PubMed ID

16341073