(Q28283137)

GOA release 2020-03-11

ciliopathy

1 reference

based on heuristic

inferred from title

Sensenbrenner syndrome

1 reference

10

0 references

Hans-Hilger Ropers

16

0 references

Jacek Zachwieja

Jacek Zachwieja

13

0 references

Daniel Osborn

Daniel Osborn

3

0 references

Masoud Garshasbi

Masoud Garshasbi

9

0 references

Anna Latos-Bieleńska

17

Anna Latos-Bielenska

0 references

Danuta Zwolińska

14

Danuta Zwolinska

0 references

Joanna Walczak-Sztulpa

1

Joanna Walczak-Sztulpa

0 references

Francesco Emma

5

Francesco Emma

0 references

author name string

Jonathan Eggenschwiler

2

0 references

Desmond A Brown

4

0 references

Claus Klingenberg

6

0 references

Raoul C Hennekam

7

0 references

Giuliano Torre

8

0 references

Malgorzata Szczepanska

11

0 references

Marian Krawczynski

12

0 references

Philip L Beales

15

0 references

Andreas W Kuss

American Journal of Human Genetics

18

0 references

language of work or name

English

0 references

publication date

11 June 2010

0 references

published in

0 references

volume

86

0 references

page(s)

949-56

0 references

issue

6

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

Cilia and developmental signaling

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

The Ciliopathies: An Emerging Class of Human Genetic Disorders

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

Structural basis for phosphodependent substrate selection and orientation by the SCFCdc4 ubiquitin ligase

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

Restoration of renal function in zebrafish models of ciliopathies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

The Oak Ridge Polycystic Kidney mouse: modeling ciliopathies of mice and men

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

A new oculorenal syndrome: retinal dystrophy and tubulointerstitial nephropathy in cranioectodermal dysplasia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

Tetrahymena IFT122A is not essential for cilia assembly but plays a role in returning IFT proteins from the ciliary tip to the cell body

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

Cranioectodermal dysplasia: a probable ciliopathy.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

Regulation of primary cilia formation and left-right patterning in zebrafish by a noncanonical Wnt signaling mediator, duboraya

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

Hedgehog signalling is required for maintenance of myf5 and myoD expression and timely terminal differentiation in zebrafish adaxial myogenesis.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032067

Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20493458

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Connective tissue involvement in two patients with features of cranioectodermal dysplasia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20493458