(Q24315070)

English

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

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scholarly article

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

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1 reference

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

negative regulation of canonical Wnt signaling pathway

1 reference

GOA release 2020-03-11

Nephronophthisis 3 (adolescent)

1 reference

GOA release 2020-03-11

1 reference

based on heuristic

inferred from title

renal-hepatic-pancreatic dysplasia

1 reference

based on heuristic

inferred from title

Peter Nürnberg

21

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5

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29

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Gudrun Nürnberg

11

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Bernhard Schermer

7

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Hanswalter Zentgraf

20

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27

object named as

Thomas Benzing

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17

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28

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Soeren S Lienkamp

object named as

Soeren Lienkamp

24

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Janbernd Kirschner

object named as

Jan Kirschner

6

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Christian Becker

12

object named as

Christian Becker

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author name string

Carsten Bergmann

1

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Manfred Fliegauf

2

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Nadina Ortiz Brüchle

3

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Valeska Frank

4

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Ingolf Schmedding

8

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Andreas Kispert

9

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Bettina Kränzlin

10

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Tiemo Grimm

13

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Gundula Girschick

14

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Sally A Lynch

15

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Peter Kelehan

16

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Thomas J Neuhaus

18

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Thomas Stallmach

19

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Norbert Gretz

22

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Cecilia Lo

23

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Tobias Schäfer

25

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Gerd Walz

26

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language of work or name

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publication date

April 2008

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American Journal of Human Genetics

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82

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4

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959-70

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

19 March 2017

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

19 March 2017

Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

19 March 2017

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

19 March 2017

The Ciliopathies: An Emerging Class of Human Genetic Disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

19 March 2017

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

19 March 2017

The laminopathies: a clinical review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

19 March 2017

Congenital disorders of glycosylation: a booming chapter of pediatrics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

19 March 2017

Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

19 March 2017

The Oak Ridge Polycystic Kidney (orpk) disease gene is required for left-right axis determination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

27 September 2017

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

27 September 2017

Sensory cilia and integration of signal transduction in human health and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

27 September 2017

Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

27 September 2017

Understanding pathogenic mechanisms in polycystic kidney disease provides clues for therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

27 September 2017

The Runx3 transcription factor regulates development and survival of TrkC dorsal root ganglia neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

27 September 2017

The polycystic kidney disease 1 gene product modulates Wnt signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

27 September 2017

Genetic identification of two major modifier loci of polycystic kidney disease progression in pcy mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

27 September 2017

A major developmental transition in early xenopus embryos: I. characterization and timing of cellular changes at the midblastula stage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

27 September 2017

Evidence of Oligogenic Inheritance in Nephronophthisis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

29 November 2018

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427297

29 November 2018

Renal-hepatic-pancreatic dysplasia: an autosomal recessive disorder with renal and hepatic failure

1 reference

https://pubmed.ncbi.nlm.nih.gov/18371931

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical variability in ciliary disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/18371931

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2008.02.017

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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