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Mutation of POC1B in a severe syndromic retinal ciliopathy

autor

Peter Nürnberg

Gudrun Nürnberg

Enza Maria Valente

Uwe Wolfrum

Monte Westerfield

Janine Altmüller

Raoul Heller

Michaela Thoenes

Andreas Janecke

Kym M Boycott

Josephina Sampson

Holger Thiele

Janine Altmüller

publicat a: Human Mutation

date of publication: 2014-10

idioma: anglès

tema principal: POC1 centriolar protein B, retina homeostasis, POC1 centriolar protein B, ciliopatia

Cites articles 42

Date

Títol

Autors

2014-01-01

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

Gabrielle Wheway, David Parry
2014-05-15

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

Ernst R Tamm
2014-01-01

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

Ana-Maria Oprişoreanu, Guenter Fritz, Joerg Wenzel, Christina Fagerberg, Anette Bygum, Susanne Schoch
2014-10-01

Novel recessive cone-rod dystrophy caused by POC1B mutation

Aslihan Tolun
2013-11-07

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

Miriam Schmidts, Julia Vodopiutz, Claudio R Cortés, Richard Emes, Andreas Janecke, Peter J Scambler, Matthew A. Brown, Carol Wicking, Emma L. Duncan, Aideen M McInerney-Leo
2013-11-12

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

Gudrun Nürnberg, Peter Charbel Issa, Peter Nürnberg, Frank G Holz, Bernd Wollnik, Shahid M Baig
2013-10-31

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

Valérie Cormier-Daire, Celine Huber, Kim-Hanh Le Quan Sang, Valérie Serre, Arnold Munnich, David Rimoin
2013-09-14

The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A.
2013-07-17

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

Enza Maria Valente, Alessia Micalizzi
2013-06-11

A method for WD40 repeat detection and secondary structure prediction
2013-08-01

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

Edgar A. Otto, Heon Yung Gee, Jeremy Schwartzentruber
2013-03-16

The RPGRIP1-related retinal phenotype in children.

Fowzan S Alkuraya, Arif O. Khan
2012-09-26

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

Rebecca S Hames, Kornelis Straatman
2012-01-13

ABCB6 mutations cause ocular coloboma

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2012-08

On WD40 proteins: propelling our knowledge of transcriptional control?
2012-01-15

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

Maude Le Gall, Thierry Peyrard, Hervé Puy
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Identifying the hotspots on the top faces of WD40-repeat proteins from their primary sequences by β-bulges and DHSW tetrads
2012-07-26

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

Fowzan S Alkuraya, Ranad Shaheen
2012-07-26

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

Akemi Ishida-Yamamoto, Ronen Spiegel, Jouni Uitto
2011-06

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

Marius Ueffing, Karsten Boldt, Ronald Roepman, Christian Johannes Gloeckner, Jeroen van Reeuwijk, Norbert Kinkl, Robert Koenekoop, Frans P M Cremers, Anneke I den Hollander
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Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

Friedhelm Hildebrandt, Francesc R Garcia-Gonzalo, Diane C Slusarski, Edgar A. Otto, Rachel H Giles, Kevin C Corbit, Allen D Seol, Jeremy F Reiter
2011-11-11

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Hannie Kremer
2011-02-11

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2010-04-05

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Uwe Wolfrum
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Trafficking to the ciliary membrane: how to get across the periciliary diffusion barrier?
2010-02-01

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

Hermann-Josef Gröne, Friedhelm Hildebrandt, Enza Maria Valente, Gianluca Caridi, Edgar A. Otto, Carmen Ayuso, Gian Marco Ghiggeri, Bruno Dallapiccola, Joseph G Gleeson, Robert Koenekoop, Vanda S Lopes, Andreas Kispert, Irma López-Martínez, Anneke I den Hollander, Frans P M Cremers, Carrie M. Louie, Andrew M. Schlossman
2009-12-01

Basal body stability and ciliogenesis requires the conserved component Poc1

Daniel Osborn
2009-06

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

Nicholas Katsanis, Friedhelm Hildebrandt, Tania Attié-Bitach, Chris F. Inglehearn, Alejandro Estrada-Cuzcano, Clare Victoria Logan, Edgar A. Otto, Ian Macdonald, Samuel G. Jacobson, Anand Swaroop, Hemant Khanna, Donna Muzny, Robert Koenekoop, Irma López-Martínez, Anneke I den Hollander, Carlos A Murga-Zamalloa, Carsten Bergmann, Richard A Gibbs, David A. Wheeler, Lora Lewis, Margaret B Morgan, Naushin H Waseem, Christina Chakarova, Shomi S Bhattacharya
2009-06-21

MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome

Baris Turkbey, Peter L Choyke, David E. Kleiner, Maya Tuchman, Theo Heller, William A Gahl, Meral Gunay-Aygun, Melissa A Parisi, Ian A Glass
2009-01-01

Polycystic kidney disease
2008-01-31

Centrins in retinal photoreceptor cells: regulators in the connecting cilium

Article - wd:Q24301100

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