PMC Links for Gene (Select 363071) - PMC

Select item 61160481.

Chrysin Ameliorates Malfunction of Retinoid Visual Cycle through Blocking Activation of AGE-RAGE-ER Stress in Glucose-Stimulated Retinal Pigment Epithelial Cells and Diabetic Eyes

Min-Kyung Kang, Eun-Jung Lee, Yun-Ho Kim, Dong Yeon Kim, Hyeongjoo Oh, Soo-Il Kim, Young-Hee Kang

Nutrients. 2018 Aug; 10(8): 1046. Published online 2018 Aug 8. doi: 10.3390/nu10081046

PMCID:: PMC6116048

Abstract Article PDF–3.6M

Select item 58095152.

Impaired Rhodopsin Generation in the Rat Model of Diabetic Retinopathy

Volha V. Malechka, Gennadiy Moiseyev, Yusuke Takahashi, Younghwa Shin, Jian-xing Ma

Am J Pathol. 2017 Oct; 187(10): 2222–2231. doi: 10.1016/j.ajpath.2017.06.007

PMCID:: PMC5809515

Abstract Article

Select item 39180013.

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia and coloboma: a new dimension to the STRA6 phenotype

Jillian Casey, Riki Kawaguchi, Maria Morrissey, Hui Sun, Paul McGettigan, Jens Erik Nielsen, Judith Conroy, Regina Regan, Elaine Kenny, Paul Cormican, Derek W Morris, Peter Tormey, Muireann Ní Chróinín, Breandan N Kennedy, SallyAnn Lynch, Andrew Green, Sean Ennis

Hum Mutat. Author manuscript; available in PMC 2014 Feb 7.

Published in final edited form as: Hum Mutat. 2011 Dec; 32(12): 1417–1426. Published online 2011 Sep 29. doi: 10.1002/humu.21590

PMCID:: PMC3918001

Abstract Article PDF–2.2M

Select item 18210974.

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Francesca Pasutto, Heinrich Sticht, Gerhard Hammersen, Gabriele Gillessen-Kaesbach, David R. FitzPatrick, Gudrun Nürnberg, Frank Brasch, Heidemarie Schirmer-Zimmermann, John L. Tolmie, David Chitayat, Gunnar Houge, Lorena Fernández-Martínez, Sarah Keating, Geert Mortier, Raoul C. M. Hennekam, Axel von der Wense, Anne Slavotinek, Peter Meinecke, Pierre Bitoun, Christian Becker, Peter Nürnberg, André Reis, Anita Rauch

Am J Hum Genet. 2007 Mar; 80(3): 550–560. Published online 2007 Jan 29. doi: 10.1086/512203

PMCID:: PMC1821097

Abstract Article PDF–3.3M

Select item 66441555.

The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome

Daniel Berner, Ursula Hoja, Matthias Zenkel, James Julian Ross, Steffen Uebe, Daniela Paoli, Paolo Frezzotti, Robyn M Rautenbach, Ari Ziskind, Susan E Williams, Trevor R Carmichael, Michele Ramsay, Fotis Topouzis, Anthi Chatzikyriakidou, Alexandros Lambropoulos, Periasamy Sundaresan, Humaira Ayub, Farah Akhtar, Raheel Qamar, Juan C Zenteno, Marisa Cruz-Aguilar, Yury S Astakhov, Michael Dubina, Janey Wiggs, Mineo Ozaki, Friedrich E Kruse, Tin Aung, André Reis, Chiea Chuen Khor, Francesca Pasutto, Ursula Schlötzer-Schrehardt

Hum Mol Genet. 2019 Aug 1; 28(15): 2531–2548. Published online 2019 Apr 15. doi: 10.1093/hmg/ddz075

PMCID:: PMC6644155

Abstract Article PDF–48M

Select item 32043146.

Signalling by vitamin A and retinol-binding protein in regulation of insulin responses and lipid homeostasis

Daniel C. Berry, Noa Noy

Biochim Biophys Acta. Author manuscript; available in PMC 2013 Jan 1.

Published in final edited form as: Biochim Biophys Acta. 2012 Jan; 1821(1): 168–176. Published online 2011 Jul 12. doi: 10.1016/j.bbalip.2011.07.002

PMCID:: PMC3204314

Abstract Article PDF–2.7M

Select item 28032407.

Acidic retinoids synergize with vitamin A to enhance retinol uptake and STRA6, LRAT, and CYP26B1 expression in neonatal lung

Lili Wu, A. Catharine Ross

J Lipid Res. 2010 Feb; 51(2): 378–387. doi: 10.1194/jlr.M001222

PMCID:: PMC2803240

Abstract Article PDF–947K

Select item 26949718.

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Paweł Stankiewicz, Partha Sen, Samarth S. Bhatt, Mekayla Storer, Zhilian Xia, Bassem A. Bejjani, Zhishuo Ou, Joanna Wiszniewska, Daniel J. Driscoll, Juan Bolivar, Mislen Bauer, Elaine H. Zackai, Donna McDonald-McGinn, Małgorzata M.J. Nowaczyk, Mitzi Murray, Tamim H. Shaikh, Vicki Martin, Matthew Tyreman, Ingrid Simonic, Lionel Willatt, Joan Paterson, Sarju Mehta, Diana Rajan, Tomas Fitzgerald, Susan Gribble, Elena Prigmore, Ankita Patel, Lisa G. Shaffer, Nigel P. Carter, Sau Wai Cheung, Claire Langston, Charles Shaw-Smith

Am J Hum Genet. 2009 Jun 12; 84(6): 780–791. doi: 10.1016/j.ajhg.2009.05.005

Correction in:: Am J Hum Genet. 2009 Oct 9; 85(4): 537.

PMCID:: PMC2694971

Abstract Article PDF–1.1M

Select item 37501519.

The STRA6 Receptor Is Essential for Retinol-binding Protein-induced Insulin Resistance but Not for Maintaining Vitamin A Homeostasis in Tissues Other Than the Eye

Daniel C. Berry, Hugues Jacobs, Gurdeep Marwarha, Aurore Gely-Pernot, Sheila M. O'Byrne, David DeSantis, Muriel Klopfenstein, Betty Feret, Christine Dennefeld, William S. Blaner, Colleen M. Croniger, Manuel Mark, Noa Noy, Norbert B. Ghyselinck

J Biol Chem. 2013 Aug 23; 288(34): 24528–24539. Published online 2013 Jul 9. doi: 10.1074/jbc.M113.484014

PMCID:: PMC3750151

Abstract Article PDF–2.3M

Select item 354300710.

Liver Retinol Transporter and Receptor for Serum Retinol-binding Protein (RBP4)

Philomena Alapatt, Fangjian Guo, Susan M. Komanetsky, Shuping Wang, Jinjin Cai, Ashot Sargsyan, Eduardo Rodríguez Díaz, Brandon T. Bacon, Pratik Aryal, Timothy E. Graham

J Biol Chem. 2013 Jan 11; 288(2): 1250–1265. Published online 2012 Oct 26. doi: 10.1074/jbc.M112.369132

PMCID:: PMC3543007

Abstract Article PDF–4.2M

Select item 317956711.

Physiological insights into all-trans-retinoic acid biosynthesis

Joseph L. Napoli

Biochim Biophys Acta. Author manuscript; available in PMC 2013 Jan 1.

Published in final edited form as: Biochim Biophys Acta. 2012 Jan; 1821(1): 152–167. Published online 2011 May 19. doi: 10.1016/j.bbalip.2011.05.004

PMCID:: PMC3179567

Abstract Article PDF–795K

Select item 13924112.

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

Select item 317805913.

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

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