(Q52653183)

5 May 2018

title

Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-Løken syndrome? (English)

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5 May 2018

1 reference

P Vogel

1

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5 May 2018

C M Gelfman

2

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5 May 2018

T Issa

3

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5 May 2018

B J Payne

4

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5 May 2018

G M Hansen

5

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5 May 2018

R W Read

6

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5 May 2018

C Jones

7

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5 May 2018

M R Pitcher

8

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5 May 2018

Z-M Ding

9

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5 May 2018

C M DaCosta

10

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5 May 2018

M K Shadoan

11

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5 May 2018

R B Vance

12

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5 May 2018

D R Powell

13

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5 May 2018

publication date

26 August 2014

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5 May 2018

published in

Veterinary Pathology

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5 May 2018

volume

52

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5 May 2018

issue

3

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5 May 2018

page(s)

580-595

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5 May 2018

The retinal ciliopathies.

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

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Dissection of epistasis in oligogenic Bardet-Biedl syndrome

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

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

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Primary ciliary dyskinesia: current state of the art.

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Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

21 January 2018

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Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

21 January 2018

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In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

21 January 2018

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Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

21 January 2018

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Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis

21 January 2018

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A mouse model for Meckel syndrome type 3.

21 January 2018

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CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

21 January 2018

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The ciliary transition zone: from morphology and molecules to medicine

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

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Cystic kidney diseases: learning from animal models.

21 January 2018

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When cilia go bad: cilia defects and ciliopathies

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A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

21 January 2018

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Development of multiorgan pathology in the wpk rat model of polycystic kidney disease

21 January 2018

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Apoptosis in polycystic kidney disease.

21 January 2018

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Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.

21 January 2018

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https://api.crossref.org/works/10.1177%2F0300985814547392

Nephronophthisis: disease mechanisms of a ciliopathy

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F0300985814547392

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F0300985814547392

Nephronophthisis-associated ciliopathies

21 January 2018

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https://api.crossref.org/works/10.1177%2F0300985814547392

Evidence of Oligogenic Inheritance in Nephronophthisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F0300985814547392

Mechanisms of Nephronophthisis and Related Ciliopathies

21 January 2018

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https://api.crossref.org/works/10.1177%2F0300985814547392

Intraflagellar transport and the sensory outer segment of vertebrate photoreceptors

21 January 2018

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https://api.crossref.org/works/10.1177%2F0300985814547392

Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse

21 January 2018

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https://api.crossref.org/works/10.1177%2F0300985814547392

Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

The oligogenic properties of Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

The transcriptional programme of contact-inhibition

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Kinetics of rod outer segment renewal in the developing mouse retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

RP1 is required for the correct stacking of outer segment discs

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Hereditary renal dysplasia and blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Non-random distribution and sensory functions of primary cilia in vascular smooth muscle cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Cardiopulmonary malformations in the inv/inv mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Primary ciliary dyskinesia (PCD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F0300985814547392

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Altered expression of genes involved in regulation of vitamin A metabolism, solute transportation, and cytoskeletal function in the androgen-insensitive tfm mouse testis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F0300985814547392

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

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/10.1177%2F0300985814547392

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

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/10.1177%2F0300985814547392

Frizzled 4 is required for retinal angiogenesis and maintenance of the blood-retina barrier.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Does kidney disease cause hypertension?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Renal cysts of inv/inv mice resemble early infantile nephronophthisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

An alternative splicing variant in Clcn7-/- mice prevents osteopetrosis but not neural and retinal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Histopathological and neurological features of Atg4b knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

A mouse model of hereditary folate malabsorption: deletion of the PCFT gene leads to systemic folate deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Exploring the elephant: histopathology in high-throughput phenotyping of mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Juvenile Familial Nephropathy with Tapetoretinal Degeneration*

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Nephronophthisis: a genetically diverse ciliopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

The propulsion of mucus by cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Development of polycystic kidney disease in juvenile cystic kidney mice: insights into pathogenesis, ciliary abnormalities, and common features with human disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

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/10.1177%2F0300985814547392

Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

A mouse knockout library for secreted and transmembrane proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Cardiomyopathy in α-kinase 3 (ALPK3)-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Incomplete inhibition of sphingosine 1-phosphate lyase modulates immune system function yet prevents early lethality and non-lymphoid lesions

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Tubulin tyrosine ligase-like 1 deficiency results in chronic rhinosinusitis and abnormal development of spermatid flagella in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Comparative pathology of murine mucolipidosis types II and IIIC

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Situs inversus in Dpcd/Poll-/-, Nme7-/- , and Pkd1l1-/- mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Congenital hydrocephalus in genetically engineered mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Ocular albinism and hypopigmentation defects in Slc24a5-/- mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Mouse models of polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

The C. elegans homologs of nephrocystin-1 and nephrocystin-4 are cilia transition zone proteins involved in chemosensory perception

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Ciliary signaling cascades in photoreceptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Wnk1 kinase deficiency lowers blood pressure in mice: A gene-trap screen to identify potential targets for therapeutic intervention

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Disruption and sequence identification of 2,000 genes in mouse embryonic stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Knockouts model the 100 best-selling drugs--will they model the next 100?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Predicting drug efficacy: knockouts model pipeline drugs of the pharmaceutical industry

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985814547392

21 January 2018

Identifiers

DOI

10.1177/0300985814547392

1 reference

5 May 2018

1 reference

5 May 2018