PMC Links for Gene (Select 338917) - PMC

Select item 95854721.

Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells

Vasily M. Smirnov, Matthieu P. Robert, Christel Condroyer, Julien Navarro, Aline Antonio, Jean-Michel Rozet, José-Alain Sahel, Isabelle Perrault, Isabelle Audo, Christina Zeitz

JAMA Ophthalmol. 2022 Dec; 140(12): 1163–1173. Published online 2022 Oct 20. doi: 10.1001/jamaophthalmol.2022.4146

PMCID:: PMC9585472

Article

Select item 68224672.

Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations

Qian Jiang, Yang Wang, Qi Li, Zhen Zhang, Ping Xiao, Hui Wang, Na Liu, Jian Wu, Feng Zhang, Aravinda Chakravarti, Wei Cai, Long Li

Orphanet J Rare Dis. 2019; 14: 237. Published online 2019 Oct 30. doi: 10.1186/s13023-019-1194-2

PMCID:: PMC6822467

Article PDF–2.1M

Select item 40373403.

Modeling human retinal development with patient-specific iPS cells reveals multiple roles for VSX2

M. Joseph Phillips, Enio T. Perez, Jessica M. Martin, Samantha T. Reshel, Kyle A. Wallace, Elizabeth E. Capowski, Ruchira Singh, Lynda S. Wright, Eric M. Clark, Patrick M. Barney, Ron Stewart, Sarah J. Dickerson, Michael J. Miller, E. Ferda Percin, James A. Thomson, David M. Gamm

Stem Cells. Author manuscript; available in PMC 2015 Jun 1.

Published in final edited form as: Stem Cells. 2014 Jun; 32(6): 1480–1492. doi: 10.1002/stem.1667

PMCID:: PMC4037340

Article PDF–3.6M

Select item 31850304.

VSX2 mutations in autosomal recessive microphthalmia

Linda M. Reis, Ayesha Khan, Ariana Kariminejad, Farhad Ebadi, Rebecca C. Tyler, Elena V. Semina

Mol Vis. 2011; 17: 2527–2532. Published online 2011 Sep 28.

PMCID:: PMC3185030

Article PDF–2.0M

Select item 94407545.

Functional analysis of the Vsx2 super-enhancer uncovers distinct cis-regulatory circuits controlling Vsx2 expression during retinogenesis

Fuyun Bian, Marwa Daghsni, Fangfang Lu, Silvia Liu, Jeffrey M. Gross, Issam Aldiri

Development. 2022 Aug 1; 149(15): dev200642. Published online 2022 Aug 8. doi: 10.1242/dev.200642

PMCID:: PMC9440754

Article

Select item 51565916.

Regulation of WNT Signaling by VSX2 During Optic Vesicle Patterning in Human Induced Pluripotent Stem Cells

Elizabeth E Capowski, Lynda S Wright, Kun Liang, M. Joseph Phillips, Kyle Wallace, Anna Petelinsek, Anna Hagstrom, Isabel Pinilla, Katarzyna Borys, Jessica Lien, Jee Hong Min, Sunduz Keles, James A Thomson, David M Gamm

Stem Cells. Author manuscript; available in PMC 2017 Nov 1.

Published in final edited form as: Stem Cells. 2016 Nov; 34(11): 2625–2634. Published online 2016 Jul 5. doi: 10.1002/stem.2414

PMCID:: PMC5156591

Article PDF–2.6M

Select item 45461567.

VSX2 and ASCL1 Are Indicators of Neurogenic Competence in Human Retinal Progenitor Cultures

Lynda S. Wright, Isabel Pinilla, Jishnu Saha, Joshua M. Clermont, Jessica S. Lien, Katarzyna D. Borys, Elizabeth E. Capowski, M. Joseph Phillips, David M. Gamm

PLoS One. 2015; 10(8): e0135830. Published online 2015 Aug 20. doi: 10.1371/journal.pone.0135830

PMCID:: PMC4546156

Article PDF–9.6M

Select item 27853838.

Identification and Functional Characterization of Cytoplasmic Determinants of Plasmid DNA Nuclear Import

Felix M. Munkonge, Vaksha Amin, Stephen C. Hyde, Anne-Marie Green, Ian A. Pringle, Deborah R. Gill, Joel W. S. Smith, Robert P. Hooley, Stefania Xenariou, Malcolm A. Ward, Nicola Leeds, Kit-Yi Leung, Mario Chan, Elizabeth Hillery, Duncan M. Geddes, Uta Griesenbach, Edith H. Postel, David A. Dean, Michael J. Dunn, Eric W. F. W. Alton

J Biol Chem. 2009 Sep 25; 284(39): 26978–26987. Published online 2009 Jul 28. doi: 10.1074/jbc.M109.034850

PMCID:: PMC2785383

Article PDF–1.5M

Select item 24804799.

Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes

Tin Aung, Marcus C.C. Lim, Tina T.L. Wong, Anbupalam Thalamuthu, Victor H.K. Yong, Divya Venkataraman, Anandalakshmi Venkatraman, Paul T.K. Chew, Eranga N. Vithana

Mol Vis. 2008; 14: 1313–1318. Published online 2008 Jul 17.

PMCID:: PMC2480479

Article PDF–1.4M

Select item 227520910.

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia

Jie Zhou, Femida Kherani, Tanya M. Bardakjian, James Katowitz, Nkecha Hughes, Lisa A. Schimmenti, Adele Schneider, Terri L. Young

Mol Vis. 2008; 14: 583–592. Published online 2008 Mar 24.

PMCID:: PMC2275209

Article PDF–2.5M

Select item 289476511.

Polycomb repressor complex 2 regulates HOXA9 and HOXA10, activating ID2 in NK/T-cell lines

Stefan Nagel, Letizia Venturini, Victor E Marquez, Corinna Meyer, Maren Kaufmann, Michaela Scherr, Roderick AF MacLeod, Hans G Drexler

Mol Cancer. 2010; 9: 151. Published online 2010 Jun 17. doi: 10.1186/1476-4598-9-151

PMCID:: PMC2894765

Article PDF–1.1M

Select item 279689012.

The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina

Sacha Reichman, Ravi Kiran Reddy Kalathur, Sophie Lambard, Najate Aït-Ali, Yanjiang Yang, Aurélie Lardenois, Raymond Ripp, Olivier Poch, Donald J. Zack, José-Alain Sahel, Thierry Léveillard

Hum Mol Genet. 2010 Jan 15; 19(2): 250–261. Published online 2009 Oct 20. doi: 10.1093/hmg/ddp484

PMCID:: PMC2796890

Article PDF–390K

Select item 280229413.

Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma

Xiaohui Zhang, Shiqiang Li, Xueshan Xiao, Xiaoyun Jia, Panfeng Wang, Huangxuan Shen, Xiangming Guo, Qingjiong Zhang

Mol Vis. 2009; 15: 2911–2918. Published online 2009 Dec 27.

PMCID:: PMC2802294

Article PDF–4.0M

Select item 408237214.

The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease

Stefanie L. Butland, Shaun S. Sanders, Mandi E. Schmidt, Sean-Patrick Riechers, David T.S. Lin, Dale D.O. Martin, Kuljeet Vaid, Rona K. Graham, Roshni R. Singaraja, Erich E. Wanker, Elizabeth Conibear, Michael R. Hayden

Hum Mol Genet. 2014 Aug 1; 23(15): 4142–4160. Published online 2014 Apr 4. doi: 10.1093/hmg/ddu137

PMCID:: PMC4082372

Article PDF–1.7M

Select item 800904815.

Impact of cytosine methylation on DNA binding specificities of human transcription factors

Yimeng Yin, Ekaterina Morgunova, Arttu Jolma, Eevi Kaasinen, Biswajyoti Sahu, Syed Khund-Sayeed, Pratyush K. Das, Teemu Kivioja, Kashyap Dave, Fan Zhong, Kazuhiro R. Nitta, Minna Taipale, Alexander Popov, Paul A. Ginno, Silvia Domcke, Jian Yan, Dirk Schübeler, Charles Vinson, Jussi Taipale

Science. Author manuscript; available in PMC 2021 Mar 30.

Published in final edited form as: Science. 2017 May 5; 356(6337): eaaj2239. doi: 10.1126/science.aaj2239

PMCID:: PMC8009048

Article PDF–2.6M

Select item 461721116.

The BioPlex Network: A Systematic Exploration of the Human Interactome

Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2016 Jul 16.

Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043

PMCID:: PMC4617211

Article PDF–2.2M

Select item 553161117.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Article PDF–2.7M

Select item 816503018.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Article PDF–2.2M

Select item 13924119.

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

Article PDF–118K

Select item 317805920.

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

Article PDF–1.0M

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