Loss of CRB2 in Müller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype (English)
- New search for: Quinn, Peter M
- New search for: Mulder, Aat A
- New search for: Henrique Alves, C
- New search for: Desrosiers, Mélissa
- New search for: de Vries, Sharon I
- New search for: Klooster, Jan
- New search for: Dalkara, Deniz
- New search for: Koster, Abraham J
- New search for: Jost, Carolina R
- New search for: Wijnholds, Jan
- New search for: Quinn, Peter M
- New search for: Mulder, Aat A
- New search for: Henrique Alves, C
- New search for: Desrosiers, Mélissa
- New search for: de Vries, Sharon I
- New search for: Klooster, Jan
- New search for: Dalkara, Deniz
- New search for: Koster, Abraham J
- New search for: Jost, Carolina R
- New search for: Wijnholds, Jan
In:
Human molecular genetics
;
28
, 1
;
105-123
;
2018
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ISSN:
- Article (Journal) / Print
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Title:Loss of CRB2 in Müller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype
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Contributors:Quinn, Peter M ( author ) / Mulder, Aat A ( author ) / Henrique Alves, C ( author ) / Desrosiers, Mélissa ( author ) / de Vries, Sharon I ( author ) / Klooster, Jan ( author ) / Dalkara, Deniz ( author ) / Koster, Abraham J ( author ) / Jost, Carolina R ( author ) / Wijnholds, Jan ( author )
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Published in:Human molecular genetics ; 28, 1 ; 105-123
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Publisher:
- New search for: Oxford University Press
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Publication date:2018-01-01
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Size:19 pages
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ISSN:
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
- New search for: 572.8
- Further information on Dewey Decimal Classification
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Classification:
DDC: 572.8 -
Source:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 28, Issue 1
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 1
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Insight into the specificity and severity of pathogenic mechanisms associated with missense mutations through experimental and structural perturbation analysesMedina-Carmona, Encarnación / Betancor-Fernández, Isabel / Santos, Jaime / Mesa-Torres, Noel / Grottelli, Silvia / Batlle, Cristina / Naganathan, Athi N / Oppici, Elisa / Cellini, Barbara / Ventura, Salvador et al. | 2018
- 16
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Polycystin-1 regulates bone development through an interaction with the transcriptional coactivator TAZMerrick, David / Mistry, Kavita / Wu, Jingshing / Gresko, Nikolay / Baggs, Julie E / Hogenesch, John B / Sun, Zhaoxia / Caplan, Michael J et al. | 2018
- 31
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Nuclear localization and phosphorylation modulate pathological effects of alpha-synucleinPinho, Raquel / Paiva, Isabel / Jerčić, Kristina Gotovac / Fonseca-Ornelas, Luis / Gerhardt, Ellen / Fahlbusch, Christiane / Garcia-Esparcia, Paula / Kerimoglu, Cemil / Pavlou, Maria A S / Villar-Piqué, Anna et al. | 2018
- 51
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Cordycepin activates autophagy through AMPK phosphorylation to reduce abnormalities in Machado–Joseph disease modelsMarcelo, Adriana / Brito, Filipa / Carmo-Silva, Sara / Matos, Carlos A / Alves-Cruzeiro, João / Vasconcelos-Ferreira, Ana / Koppenol, Rebekah / Mendonça, Liliana / de Almeida, Luís Pereira / Nóbrega, Clévio et al. | 2018
- 64
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Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiationBottai, Daniele / Spreafico, Marco / Pistocchi, Anna / Fazio, Grazia / Adami, Raffaella / Grazioli, Paolo / Canu, Adriana / Bragato, Cinzia / Rigamonti, Silvia / Parodi, Chiara et al. | 2018
- 74
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C-type natriuretic peptide improves growth retardation in a mouse model of cardio-facio-cutaneous syndromeInoue, Shin-ichi / Morozumi, Naomi / Yoshikiyo, Kazunori / Maeda, Hiroaki / Aoki, Yoko et al. | 2018
- 84
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Epigenetic changes in preterm birth placenta suggest a role for ADAMTS genes in spontaneous preterm birthMani, Sneha / Ghosh, Jayashri / Lan, Yemin / Senapati, Suneeta / Ord, Teri / Sapienza, Carmen / Coutifaris, Christos / Mainigi, Monica et al. | 2018
- 96
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GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delayRumping, Lynne / Tessadori, Federico / Pouwels, Petra J W / Vringer, Esmee / Wijnen, Jannie P / Bhogal, Alex A / Savelberg, Sanne M C / Duran, Karen J / Bakkers, Mark J G / Ramos, Rúben J J et al. | 2018
- 105
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Loss of CRB2 in Müller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotypeQuinn, Peter M / Mulder, Aat A / Henrique Alves, C / Desrosiers, Mélissa / de Vries, Sharon I / Klooster, Jan / Dalkara, Deniz / Koster, Abraham J / Jost, Carolina R / Wijnholds, Jan et al. | 2018
- 124
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A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal functionFratta, Pietro / Ornaghi, Francesca / Dati, Gabriele / Zambroni, Desirée / Saveri, Paola / Belin, Sophie / D'Adamo, Patrizia / Shy, Michael / Quattrini, Angelo / Laura Feltri, M et al. | 2018
- 133
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Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE)Seo, Aaron / Gulsuner, Suleyman / Pierce, Sarah / Ben-Harosh, Miri / Shalev, Hanna / Walsh, Tom / Krasnov, Tanya / Dgany, Orly / Doulatov, Sergei / Tamary, Hannah et al. | 2018
- 143
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Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type IaWaskowicz, Lauren R / Zhou, Jin / Landau, Dustin J / Brooks, Elizabeth D / Lim, Andrea / Yavarow, Zollie A / Kudo, Tsubasa / Zhang, Haoyue / Wu, Yajun / Grant, Stuart et al. | 2018
- 155
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Investigating the impact of cigarette smoking behaviours on DNA methylation patterns in adolescencePrince, Claire / Hammerton, Gemma / Taylor, Amy E / Anderson, Emma L / Timpson, Nicholas J / Davey Smith, George / Munafò, Marcus R / Relton, Caroline L / Richmond, Rebecca C et al. | 2018
- 166
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Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestryPulit, Sara L / Stoneman, Charli / Morris, Andrew P / Wood, Andrew R / Glastonbury, Craig A / Tyrrell, Jessica / Yengo, Loïc / Ferreira, Teresa / Marouli, Eirini / Ji, Yingjie et al. | 2018
- 175
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Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degenerationCharng, Jason / Cideciyan, Artur V / Jacobson, Samuel G / Sumaroka, Alexander / Schwartz, Sharon B / Swider, Malgorzata / Roman, Alejandro J / Sheplock, Rebecca / Anand, Manisha / Peden, Marc C et al. | 2018