Mutation of POC1B in a severe syndromic retinal ciliopathy (Q24301100)

GOA release 2020-03-11

retina homeostasis

1 reference

POC1 centriolar protein B

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

14

0 references

Gudrun Nürnberg

13

0 references

Enza Maria Valente

20

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Uwe Wolfrum

29

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Monte Westerfield

28

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Janine Altmüller

16

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Raoul Heller

8

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Michaela Thoenes

5

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Andreas Janecke

21

Andreas R Janecke

0 references

Kym M Boycott

19

Kym M Boycott

0 references

Josephina Sampson

Josephina Sampson

7

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Holger Thiele

15

Holger Thiele

0 references

Janine Altmüller

1 reference

ORCID Public Data File 2021

author name string

Bodo B Beck

1

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Jennifer B Phillips

2

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Malte P Bartram

3

0 references

Jeremy Wegner

4

0 references

Andrea Pannes

6

0 references

Heike Göbel

9

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Friederike Koerber

10

0 references

Antje Neugebauer

11

0 references

Andrea Hedergott

12

0 references

Mohammad R Toliat

17

0 references

Simon Staubach

18

0 references

Tobias Eisenberger

22

0 references

Carsten Bergmann

23

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Lars Tebbe

24

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Yang Wang

25

0 references

Yundong Wu

26

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Andrew M Fry

27

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Hanno J Bolz

Poc1A and Poc1B act together in human cells to ensure centriole integrity

30

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language of work or name

English

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publication date

October 2014

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published in

Human Mutation

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volume

35

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issue

10

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page(s)

1153-62

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cites work

1 reference

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ABCB6 mutations cause ocular coloboma

19 March 2017

1 reference

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Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

Intraflagellar transport molecules in ciliary and nonciliary cells of the retina

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

Basal body stability and ciliogenesis requires the conserved component Poc1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

19 March 2017

1 reference

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19 March 2017

1 reference

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Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

The role of primary cilia in the development and disease of the retina

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

On WD40 proteins: propelling our knowledge of transcriptional control?

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

Trafficking to the ciliary membrane: how to get across the periciliary diffusion barrier?

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

Allegro, a new computer program for multipoint linkage analysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

A method for WD40 repeat detection and secondary structure prediction

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

Identifying the hotspots on the top faces of WD40-repeat proteins from their primary sequences by β-bulges and DHSW tetrads

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

27 September 2017

1 reference

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Polycystic kidney disease

27 September 2017

1 reference

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Centrins in retinal photoreceptor cells: regulators in the connecting cilium

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

Pix1 and Pix2 are novel WD40 microtubule-associated proteins that colocalize with mitochondria in Xenopus germ plasm and centrosomes in human cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425427

Novel recessive cone-rod dystrophy caused by POC1B mutation.

27 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22618

IQCB1 mutations in patients with leber congenital amaurosis.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22618

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22618

Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25044745