NEK1 mutations cause short-rib polydactyly syndrome type majewski (Q24324062)

From Wikidata

Jump to navigation Jump to search

scientific article

edit

Language	Label	Description	Also known as
English	NEK1 mutations cause short-rib polydactyly syndrome type majewski	scientific article

Statements

instance of

scholarly article

0 references

title

NEK1 mutations cause short-rib polydactyly syndrome type majewski (English)

0 references

main subject

NIMA related kinase 1

1 reference

stated in

GOA release 2020-03-11

cilium assembly

1 reference

stated in

GOA release 2020-03-11

short rib – polydactyly syndrome

0 references

polydactyly

1 reference

based on heuristic

inferred from title

author

André Reis

series ordinal

16

0 references

Anita Rauch

series ordinal

18

0 references

Christian T Thiel

object named as

Christian Thiel

series ordinal

1

0 references

Arif B. Ekici

series ordinal

12

object named as

Arif B Ekici

0 references

Martin Zenker

series ordinal

7

object named as

Martin Zenker

0 references

Johann Helmut Brandstätter

series ordinal

17

object named as

Johann H Brandstätter

0 references

author name string

Kristin Kessler

series ordinal

2

0 references

Andreas Giessl

series ordinal

3

0 references

Arno Dimmler

series ordinal

4

0 references

Stavit A Shalev

series ordinal

5

0 references

Sigrun von der Haar

series ordinal

6

0 references

Diana Zahnleiter

series ordinal

8

0 references

Hartmut Stöss

series ordinal

9

0 references

Ernst Beinder

series ordinal

10

0 references

Rami Abou Jamra

series ordinal

11

0 references

Nadja Schröder-Kress

series ordinal

13

0 references

Thomas Aigner

series ordinal

14

0 references

Thomas Kirchner

series ordinal

15

0 references

language of work or name

English

0 references

publication date

7 January 2011

0 references

published in

American Journal of Human Genetics

0 references

volume

88

0 references

issue

1

0 references

page(s)

106-14

0 references

cites work

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

19 March 2017

The dynamic cilium in human diseases

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

19 March 2017

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

19 March 2017

Mitotic regulation by NIMA-related kinases

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

19 March 2017

Identification of proteins that interact with the central coiled-coil region of the human protein kinase NEK1

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

19 March 2017

SnapShot: Intraflagellar transport

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

19 March 2017

Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

19 March 2017

Intraflagellar transport

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

19 March 2017

Cilia and developmental signaling

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

19 March 2017

Polysyndactyly, short limbs, and genital malformations--a new syndrome?

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

19 March 2017

The NIMA-related kinase NEK1 cycles through the nucleus

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

19 March 2017

Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

19 March 2017

Cilia and Hedgehog responsiveness in the mouse

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

19 March 2017

When cilia go bad: cilia defects and ciliopathies

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

7 April 2017

Patched1 regulates hedgehog signaling at the primary cilium

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

7 April 2017

Overview of structure and function of mammalian cilia

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

7 April 2017

PDGFRalphaalpha signaling is regulated through the primary cilium in fibroblasts

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

7 April 2017

Allegro, a new computer program for multipoint linkage analysis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

7 April 2017

Primary ciliogenesis defects are associated with human astrocytoma/glioblastoma cells

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

27 September 2017

FEZ1 interacts with CLASP2 and NEK1 through coiled-coil regions and their cellular colocalization suggests centrosomal functions and regulation by PKC.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

27 September 2017

The primary cilium coordinates signaling pathways in cell cycle control and migration during development and tissue repair

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

27 September 2017

The NIMA-family kinase, Nek1 affects the stability of centrosomes and ciliogenesis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

27 September 2017

ENDEAVOUR update: a web resource for gene prioritization in multiple species

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

27 September 2017

The mammalian Nek1 kinase is involved in primary cilium formation

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

27 September 2017

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

27 September 2017

The roles of cilia in developmental disorders and disease

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

27 September 2017

Piecing together a ciliome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

27 September 2017

Gene prioritization through genomic data fusion

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

27 September 2017

Potential for expanded power in linkage studies using the ALLEGRO and MERLIN software programs

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

27 September 2017

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

27 September 2017

Cilia and disease

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

27 September 2017

The oligogenic properties of Bardet-Biedl syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

27 September 2017

Further support for digenic inheritance in Bardet-Biedl syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

27 September 2017

Evidence of Oligogenic Inheritance in Nephronophthisis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

29 November 2018

Allegro version 2

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

29 November 2018

Diagnostic dilemmas in the short rib-polydactyly syndrome group

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014367

retrieved

29 November 2018

Clinical and pathologic findings in two new allelic murine models of polycystic kidney disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21211617

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21211617

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and genetic mapping of a new polycystic kidney disease on mouse chromosome 8

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21211617

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nosology and classification of genetic skeletal disorders: 2006 revision

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21211617

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2010.12.004

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2207601

OpenCitations bibliographic resource ID

2207601

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2207601

PMC publication ID

3014367

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2207601

PubMed publication ID

21211617

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2207601

ResearchGate publication ID

49733918

0 references

 

Sitelinks

Wikipedia(0 entries)

edit

Wikibooks(0 entries)

edit

Wikinews(0 entries)

edit

Wikiquote(0 entries)

edit

Wikisource(0 entries)

edit

Wikiversity(0 entries)

edit

Wikivoyage(0 entries)

edit

Wiktionary(0 entries)

edit

Multilingual sites(0 entries)

edit

Retrieved from "https://www.wikidata.org/w/index.php?title=Q24324062&oldid=1950831349"