Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene (Q28283137)

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English	Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene	scientific article

Statements

instance of

scholarly article

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title

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene (English)

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main subject

Intraflagellar transport 122 homolog (Chlamydomonas)

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stated in

GOA release 2020-03-11

ciliopathy

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based on heuristic

inferred from title

Sensenbrenner syndrome

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based on heuristic

inferred from title

author

Andreas Tzschach

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10

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Hans-Hilger Ropers

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16

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Jacek Zachwieja

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Jacek Zachwieja

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13

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Daniel Osborn

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Daniel Osborn

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3

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Masoud Garshasbi

object named as

Masoud Garshasbi

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9

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Anna Latos-Bieleńska

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17

object named as

Anna Latos-Bielenska

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Danuta Zwolińska

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14

object named as

Danuta Zwolinska

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Joanna Walczak-Sztulpa

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1

object named as

Joanna Walczak-Sztulpa

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Francesco Emma

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5

object named as

Francesco Emma

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author name string

Jonathan Eggenschwiler

series ordinal

2

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Desmond A Brown

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4

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Claus Klingenberg

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6

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Raoul C Hennekam

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7

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Giuliano Torre

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8

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Malgorzata Szczepanska

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11

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Marian Krawczynski

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12

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Philip L Beales

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15

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Andreas W Kuss

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18

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language of work or name

English

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publication date

11 June 2010

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published in

American Journal of Human Genetics

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volume

86

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issue

6

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page(s)

949-56

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cites work

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

1 reference

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PubMed Central

reference URL

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20 March 2017

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

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PubMed Central

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20 March 2017

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

1 reference

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PubMed Central

reference URL

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20 March 2017

Cilia and developmental signaling

1 reference

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PubMed Central

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20 March 2017

The Ciliopathies: An Emerging Class of Human Genetic Disorders

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PubMed Central

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20 March 2017

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

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20 March 2017

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

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20 March 2017

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

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PubMed Central

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20 March 2017

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

1 reference

stated in

PubMed Central

reference URL

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20 March 2017

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

1 reference

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PubMed Central

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7 April 2017

Restoration of renal function in zebrafish models of ciliopathies

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PubMed Central

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29 September 2017

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

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29 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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29 September 2017

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

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29 September 2017

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

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PubMed Central

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29 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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2 June 2018

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

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PubMed Central

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2 June 2018

Cranioectodermal dysplasia: a probable ciliopathy.

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=3032067

retrieved

27 November 2018

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

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=3032067

retrieved

27 November 2018

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

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=3032067

retrieved

27 November 2018

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

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=3032067

retrieved

27 November 2018

Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family

1 reference

stated in

PubMed

reference URL

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

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connective tissue involvement in two patients with features of cranioectodermal dysplasia

1 reference

stated in

PubMed

reference URL

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

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2010.04.012

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PMC publication ID

3032067

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PubMed publication ID

20493458

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ResearchGate publication ID

44621659

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