PMC Links for OMIM (Select 607108) - PMC

Links from OMIM

Items: 1 to 20 of 24

<< First< Prev

Page of 2

Select item 70566461.

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

Kathleen A. Williamson, H. Nikki Hall, Liusaidh J. Owen, Benjamin J. Livesey, Isabel M. Hanson, G. G. W. Adams, Simon Bodek, Patrick Calvas, Bruce Castle, Michael Clarke, Alexander T. Deng, Patrick Edery, Richard Fisher, Gabriele Gillessen-Kaesbach, Elise Heon, Jane Hurst, Dragana Josifova, Birgit Lorenz, Shane McKee, Francoise Meire, Anthony T. Moore, Michael Parker, Charlotte M. Reiff, Jay Self, Edward S. Tobias, Joke B. G. M. Verheij, Marjolaine Willems, Denise Williams, Veronica van Heyningen, Joseph A. Marsh, David R. FitzPatrick

Genet Med. 2020; 22(3): 598–609. Published online 2019 Nov 8. doi: 10.1038/s41436-019-0685-9

PMCID:: PMC7056646

Abstract Article PDF–1.1M

Select item 60619952.

Lens regeneration using endogenous stem cells with gain of visual function

Haotian Lin, Hong Ouyang, Jie Zhu, Shan Huang, Zhenzhen Liu, Shuyi Chen, Guiqun Cao, Gen Li, Robert A. J. Signer, Yanxin Xu, Christopher Chung, Ying Zhang, Danni Lin, Sherrina Patel, Frances Wu, Huimin Cai, Jiayi Hou, Cindy Wen, Maryam Jafari, Xialin Liu, Lixia Luo, Jin Zhu, Austin Qiu, Rui Hou, Baoxin Chen, Jiangna Chen, David Granet, Christopher Heichel, Fu Shang, Xuri Li, Michal Krawczyk, Dorota Skowronska-Krawczyk, Yujuan Wang, William Shi, Daniel Chen, Zheng Zhong, Sheng Zhong, Liangfang Zhang, Shaochen Chen, Sean J. Morrison, Richard L. Maas, Kang Zhang, Yizhi Liu

Nature. Author manuscript; available in PMC 2018 Jul 26.

Published in final edited form as: Nature. 2016 Mar 17; 531(7594): 323–328. Published online 2016 Mar 9. doi: 10.1038/nature17181

Correction in:: Nature. 2016 Nov 30

PMCID:: PMC6061995

Abstract Article PDF–1.5M

Select item 49298743.

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

Brett Deml, Linda M Reis, Emmanuelle Lemyre, Robin D Clark, Ariana Kariminejad, Elena V Semina

Eur J Hum Genet. 2016 Apr; 24(4): 535–541. Published online 2015 Jul 1. doi: 10.1038/ejhg.2015.155

PMCID:: PMC4929874

Abstract Article PDF–1.5M

Select item 41980294.

MiR-135b is a direct PAX6 target and specifies human neuroectoderm by inhibiting TGF-β/BMP signaling

Akshay Bhinge, Jeremie Poschmann, Seema C Namboori, Xianfeng Tian, Sharon Jia Hui Loh, Anna Traczyk, Shyam Prabhakar, Lawrence W Stanton

EMBO J. 2014 Jun 2; 33(11): 1271–1283. Published online 2014 May 6. doi: 10.1002/embj.201387215

PMCID:: PMC4198029

Abstract Article PDF–2.6M

Select item 38529255.

Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia

Shipra Bhatia, Hemant Bengani, Margaret Fish, Alison Brown, Maria Teresa Divizia, Riccardo de Marco, Guiseppe Damante, Robert Grainger, Veronica van Heyningen, Dirk A. Kleinjan

Am J Hum Genet. 2013 Dec 5; 93(6): 1126–1134. doi: 10.1016/j.ajhg.2013.10.028

PMCID:: PMC3852925

Abstract Article PDF–2.3M

Select item 27834966.

Compound Heterozygosity for Mutations in PAX6 in Patient with Complex Brain Anomaly, Neonatal Diabetes Mellitus, and Microophthalmia

Benjamin D. Solomon, Daniel E. Pineda-Alvarez, Joan Z. Balog, Donald Hadley, Andrea L. Gropman, Radha Nandagopal, Joan C. Han, Jin S. Hahn, Delphine Blain, Brian Brooks, Maximilian Muenke

Am J Med Genet A. Author manuscript; available in PMC 2010 Nov 1.

Published in final edited form as: Am J Med Genet A. 2009 Nov; 149A(11): 2543–2546. doi: 10.1002/ajmg.a.33081

PMCID:: PMC2783496

Abstract Article PDF–460K

Select item 27197687.

Pax6 3′ deletion results in aniridia, autism and mental retardation

L. K. Davis, K. J. Meyer, D. S. Rudd, A. L. Librant, E. A. Epping, V. C. Sheffield, T. H. Wassink

Hum Genet. Author manuscript; available in PMC 2009 Aug 2.

Published in final edited form as: Hum Genet. 2008 May; 123(4): 371–378. Published online 2008 Mar 6. doi: 10.1007/s00439-008-0484-x

PMCID:: PMC2719768

Abstract Article PDF–978K

Select item 20808718.

Functional Properties of Natural Human PAX6 and PAX6(5a) Mutants

Bharesh K. Chauhan, Ying Yang, Kvĕta Cveklová, Aleš Cvekl

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2007 Nov 19.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2004 Feb; 45(2): 385–392. doi: 10.1167/iovs.03-0968

PMCID:: PMC2080871

Abstract Article PDF–884K

Select item 18012699.

Mutation of the PAX6 gene in patients with autosomal dominant keratitis.

F Mirzayans, W G Pearce, I M MacDonald, M A Walter

Am J Hum Genet. 1995 Sep; 57(3): 539–548.

PMCID:: PMC1801269

Summary Page Browse PDF–2.3M

Select item 173496310.

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

D Morrison, D FitzPatrick, I Hanson, K Williamson, V van Heyningen, B Fleck, I Jones, J Chalmers, H Campbell

J Med Genet. 2002 Jan; 39(1): 16–22. doi: 10.1136/jmg.39.1.16

PMCID:: PMC1734963

Summary PDF–147K

Select item 168290711.

Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization.

J A Fantes, W A Bickmore, J M Fletcher, F Ballesta, I M Hanson, V van Heyningen

Am J Hum Genet. 1992 Dec; 51(6): 1286–1294.

PMCID:: PMC1682907

Summary Page Browse PDF–2.0M

Select item 137797112.

Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.

N Azuma, Y Yamaguchi, H Handa, M Hayakawa, A Kanai, M Yamada

Am J Hum Genet. 1999 Sep; 65(3): 656–663. doi: 10.1086/302529

PMCID:: PMC1377971

Summary PDF–1.5M

Select item 119643913.

Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

Nicola K. Ragge, Alison G. Brown, Charlotte M. Poloschek, Birgit Lorenz, R. Alex Henderson, Michael P. Clarke, Isabelle Russell-Eggitt, Alistair Fielder, Dianne Gerrelli, Juan Pedro Martinez-Barbera, Piers Ruddle, Jane Hurst, J. Richard O. Collin, Alison Salt, Simon T. Cooper, Pamela J. Thompson, Sanjay M. Sisodiya, Kathleen A. Williamson, David R. FitzPatrick, Veronica van Heyningen, Isabel M. Hanson

Am J Hum Genet. 2005 Jun; 76(6): 1008–1022. Published online 2005 Apr 21. doi: 10.1086/430721