PMC Links for GEO Profiles (Select 80696206) - PMC

Select item 91508241.

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy

Irene Vázquez-Domínguez, Catherina H. Z. Li, Zeinab Fadaie, Lonneke Haer-Wigman, Frans P. M. Cremers, Alejandro Garanto, Carel B. Hoyng, Susanne Roosing

Invest Ophthalmol Vis Sci. 2022 May; 63(5): 27. Published online 2022 May 24. doi: 10.1167/iovs.63.5.27

PMCID:: PMC9150824

Abstract Article PDF–4.6M

Select item 69164922.

The myosin-tail homology domain of centrosomal protein 290 is essential for protein confinement between the inner and outer segments in photoreceptors

Poppy Datta, Brandon Hendrickson, Sarah Brendalen, Avri Ruffcorn, Seongjin Seo

J Biol Chem. 2019 Dec 13; 294(50): 19119–19136. Published online 2019 Nov 6. doi: 10.1074/jbc.RA119.009712

PMCID:: PMC6916492

Abstract Article PDF–5.5M

Select item 35819543.

Structural basis for endosomal trafficking of diverse transmembrane cargos by PX-FERM proteins

Rajesh Ghai, Andrea Bugarcic, Huadong Liu, Suzanne J. Norwood, Sune Skeldal, Elizabeth J. Coulson, Shawn Shun-Cheng Li, Rohan D. Teasdale, Brett M. Collins

Proc Natl Acad Sci U S A. 2013 Feb 19; 110(8): E643–E652. Published online 2013 Feb 4. doi: 10.1073/pnas.1216229110

PMCID:: PMC3581954

Abstract Article PDF–2.3M

Select item 31780594.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 29177195.

Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa

Dikla Bandah-Rozenfeld, Rob W.J. Collin, Eyal Banin, L. Ingeborgh van den Born, Karlien L.M. Coene, Anna M. Siemiatkowska, Lina Zelinger, Muhammad I. Khan, Dirk J. Lefeber, Inbar Erdinest, Francesco Testa, Francesca Simonelli, Krysta Voesenek, Ellen A.W. Blokland, Tim M. Strom, Caroline C.W. Klaver, Raheel Qamar, Sandro Banfi, Frans P.M. Cremers, Dror Sharon, Anneke I. den Hollander

Am J Hum Genet. 2010 Aug 13; 87(2): 199–208. doi: 10.1016/j.ajhg.2010.07.004

PMCID:: PMC2917719

Abstract Article PDF–1013K

Select item 18020776.

Mapping of transcription start sites of human retina expressed genes

Valeria Roni, Ronald Carpio, Bernd Wissinger

BMC Genomics. 2007; 8: 42. Published online 2007 Feb 7. doi: 10.1186/1471-2164-8-42

PMCID:: PMC1802077

Abstract Article PDF–578K

Select item 1392417.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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