NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development (Q28586324)

22 June 2017

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

1 reference

Nephronophthisis 4 (juvenile) homolog (human)

22 June 2017

photoreceptor protein

0 references

1 reference

GOA release 2020-03-11

1 reference

Jungyeon Won

1

1 reference

22 June 2017

Caralina Marín de Evsikova

2

1 reference

22 June 2017

Chantal Longo-Guess

6

1 reference

22 June 2017

Tiansen Li

7

1 reference

22 June 2017

Richard S Smith

3

1 reference

22 June 2017

Wanda L Hicks

4

1 reference

22 June 2017

Malia M Edwards

5

1 reference

22 June 2017

Jürgen K Naggert

8

1 reference

22 June 2017

Patsy M Nishina

9

1 reference

22 June 2017

15 November 2010

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22 June 2017

Human Molecular Genetics

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22 June 2017

20

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22 June 2017

3

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22 June 2017

482-496

1 reference

describes a project that uses

22 June 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3016909/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

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

17 March 2017

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

17 March 2017

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

17 March 2017

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

17 March 2017

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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

17 March 2017

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Alms1-disrupted mice recapitulate human Alström syndrome

17 March 2017

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Synaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant mice

17 March 2017

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

17 March 2017

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Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function

17 March 2017

1 reference

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Myosin Va is required for normal photoreceptor synaptic activity

17 March 2017

1 reference

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

17 March 2017

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

17 March 2017

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

17 March 2017

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

17 March 2017

1 reference

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

17 March 2017

1 reference

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Molecular genetics of nephronophthisis and medullary cystic kidney disease

17 March 2017

1 reference

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A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)

17 March 2017

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The kinesin motor KIF3A is a component of the presynaptic ribbon in vertebrate photoreceptors

17 March 2017

1 reference

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Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

17 March 2017

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A simple salting out procedure for extracting DNA from human nucleated cells

17 March 2017

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016909

Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions

29 September 2017

1 reference

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A mouse model for Meckel syndrome type 3.

29 September 2017

1 reference

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Early steps in the assembly of photoreceptor ribbon synapses in the mouse retina: the involvement of precursor spheres

29 September 2017

1 reference

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New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene

29 September 2017

1 reference

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Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments

29 September 2017

1 reference

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A locus on distal chromosome 11 (ahl8) and its interaction with Cdh23 ahl underlie the early onset, age-related hearing loss of DBA/2J mice

29 September 2017

1 reference

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Urinary concentration defects and mechanisms underlying nephronophthisis

29 September 2017

1 reference

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The Caenorhabditis elegans nephrocystins act as global modifiers of cilium structure

29 September 2017

1 reference

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Sensorineural hearing loss and neural correlates of temporal acuity in the inferior colliculus of the C57BL/6 mouse

29 September 2017

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Neural reprogramming in retinal degeneration.

29 September 2017

1 reference

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The roles of cilia in developmental disorders and disease

29 September 2017

1 reference

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Ribbon synapses of the retina

29 September 2017

1 reference

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The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016909

New insights: nephronophthisis-medullary cystic kidney disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016909

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016909

Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016909

A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016909

Genetic regulation of light damage to photoreceptors.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016909

An evaluation of hamster, rat, and mouse sperm-cell motility in media formulated with water of different qualities

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016909

Functional characterization of the C. elegans nephrocystins NPHP-1 and NPHP-4 and their role in cilia and male sensory behaviors

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016909

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016909

New retinal light damage QTL in mice with the light-sensitive RPE65 LEU variant

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016909

Meiosis-activating sterol promotes the metaphase I to metaphase II transition and preimplantation developmental competence of mouse oocytes maturing in vitro.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016909

Retinal remodeling triggered by photoreceptor degenerations.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016909

The presynaptic active zone protein bassoon is essential for photoreceptor ribbon synapse formation in the retina.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016909

Genetic modification of retinal degeneration in tubby mice

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016909

Disruption of laminin beta2 chain production causes alterations in morphology and function in the CNS.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016909

Development in vitro of mouse oocytes from primordial follicles.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016909

Detection of obesity QTLs on mouse chromosomes 1 and 7 by selective DNA pooling.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016909

27 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/21078623

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A rapid sperm motility bioassay procedure for quality-control testing of water and culture media

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21078623

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDQ494

1 reference

OpenCitations bibliographic resource ID

22 June 2017

2112104

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference