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data-edit-link="/citations?view_op=edit_citation&hl=en&user=rzROXnkAAAAJ&sortby=title&citation_for_view=rzROXnkAAAAJ:k_IJM867U9cC&citation_for_view=rzROXnkAAAAJ:k_IJM867U9cC&back_view_op=view_citation"><form method="post" id="gsc_vcpb_btns" action="/citations?view_op=view_citation&hl=en"><input type="hidden" name="xsrf" value="ADIE8skAAAAAZ0i-0C1wU3_jhB7QACaP1TLqA5s"><input type="hidden" name="s" value="rzROXnkAAAAJ:k_IJM867U9cC"><input type="hidden" name="continue" value="/citations?view_op=list_works&hl=en&hl=en&user=rzROXnkAAAAJ&sortby=title"></form><div id="gsc_oci_title_wrapper"><div id="gsc_oci_title_gg"><div class="gsc_oci_title_ggi"><a href="https://tvst.arvojournals.org/article.aspx?articleid=2168271" data-clk="hl=en&sa=T&ei=UG1HZ7fYOfO_y9YPm4_bqAY"><span class='gsc_vcd_title_ggt'>[HTML]</span> from arvojournals.org</a></div></div><div id="gsc_oci_title"><a class="gsc_oci_title_link" href="https://tvst.arvojournals.org/article.aspx?articleid=2168271" data-clk="hl=en&sa=T&ei=UG1HZ7fYOfO_y9YPm4_bqAY">Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye</a></div></div><div id="gsc_oci_table"><div class="gs_scl"><div class="gsc_oci_field">Authors</div><div class="gsc_oci_value">Shiwani Sharma, Kathryn P Burdon, Glyn Chidlow, Sonja Klebe, April Crawford, David P Dimasi, Alpana Dave, Sarah Martin, Shahrbanou Javadiyan, John PM Wood, Robert Casson, Patrick Danoy, Kim Griggs, Alex W Hewitt, John Landers, Paul Mitchell, David A Mackey, Jamie E Craig</div></div><div class="gs_scl"><div class="gsc_oci_field">Publication date</div><div class="gsc_oci_value">2012/7/1</div></div><div class="gs_scl"><div class="gsc_oci_field">Journal</div><div class="gsc_oci_value">Investigative ophthalmology & visual science</div></div><div class="gs_scl"><div class="gsc_oci_field">Volume</div><div class="gsc_oci_value">53</div></div><div class="gs_scl"><div class="gsc_oci_field">Issue</div><div class="gsc_oci_value">8</div></div><div class="gs_scl"><div class="gsc_oci_field">Pages</div><div class="gsc_oci_value">4917-4925</div></div><div class="gs_scl"><div class="gsc_oci_field">Publisher</div><div class="gsc_oci_value">The Association for Research in Vision and Ophthalmology</div></div><div class="gs_scl"><div class="gsc_oci_field">Description</div><div class="gsc_oci_value" id="gsc_oci_descr"><div class="gsh_small"><div class="gsh_csp">Purpose.: Glaucoma is the leading cause of irreversible blindness worldwide. Primary open angle glaucoma (POAG) is the most common subtype. We recently reported association of genetic variants at chromosomal loci, 1q24 and 9p21, with POAG. In this study, we determined association of the most significantly associated single nucleotide polymorphism (SNP) rs4656461, at 1q24 near the TMCO1 gene, with the clinical parameters related to glaucoma risk and diagnosis, and determined ocular expression and subcellular localization of the human TMCO1 protein to understand the mechanism of its involvement in POAG.</div><div class="gsh_csp">Methods.: Association of SNP rs4656461 with five clinical parameters was assessed in 1420 POAG cases using linear regression. The TMCO1 gene was screened for mutations in 95 cases with a strong family history and advanced disease. Ocular expression and subcellular localization of the TMCO1 protein were determined by immunolabeling and as GFP-fusion.</div><div class="gsh_csp">Results.: The data suggest that individuals homozygous for the rs4656461 risk allele (GG) are 4 to 5 years younger at diagnosis than noncarriers of this allele. Our data demonstrate expression of the TMCO1 protein in most tissues in the human eye, including the trabecular meshwork and retina. However, the subcellular localization differs from that reported in other studies. We demonstrate that the endogenous protein localizes to the cytoplasm and nucleus in vivo and ex vivo. In the nucleus, the protein localizes to the nucleoli.</div><div class="gsh_csp">Conclusions.: This study shows a relationship between genetic variation in and around TMCO1 with age at diagnosis of POAG and provides …</div></div></div></div><div class="gs_scl"><div class="gsc_oci_field">Total citations</div><div class="gsc_oci_value"><div style="margin-bottom:1em"><a href="https://scholar.google.com/scholar?oi=bibs&hl=en&cites=7215493245556687552&as_sdt=5">Cited by 53</a></div><div id="gsc_oci_graph_wrapper"><div id="gsc_oci_graph" style="width:393px;"><div id="gsc_oci_graph_x"></div><div id="gsc_oci_graph_bars"><span class="gsc_oci_g_t" style="left:0px">2013</span><span class="gsc_oci_g_t" style="left:33px">2014</span><span class="gsc_oci_g_t" style="left:66px">2015</span><span class="gsc_oci_g_t" style="left:99px">2016</span><span class="gsc_oci_g_t" style="left:132px">2017</span><span class="gsc_oci_g_t" style="left:165px">2018</span><span class="gsc_oci_g_t" style="left:198px">2019</span><span class="gsc_oci_g_t" style="left:231px">2020</span><span class="gsc_oci_g_t" style="left:264px">2021</span><span class="gsc_oci_g_t" style="left:297px">2022</span><span class="gsc_oci_g_t" style="left:330px">2023</span><span class="gsc_oci_g_t" style="left:363px">2024</span><a href="https://scholar.google.com/scholar?oi=bibs&hl=en&cites=7215493245556687552&as_sdt=5&as_ylo=2013&as_yhi=2013" class="gsc_oci_g_a" style="left:5px;height:25px;top:32px;z-index:12"><span class="gsc_oci_g_al">4</span></a><a href="https://scholar.google.com/scholar?oi=bibs&hl=en&cites=7215493245556687552&as_sdt=5&as_ylo=2014&as_yhi=2014" class="gsc_oci_g_a" style="left:38px;height:38px;top:19px;z-index:11"><span class="gsc_oci_g_al">6</span></a><a href="https://scholar.google.com/scholar?oi=bibs&hl=en&cites=7215493245556687552&as_sdt=5&as_ylo=2015&as_yhi=2015" class="gsc_oci_g_a" style="left:71px;height:57px;top:0px;z-index:10"><span class="gsc_oci_g_al">9</span></a><a href="https://scholar.google.com/scholar?oi=bibs&hl=en&cites=7215493245556687552&as_sdt=5&as_ylo=2016&as_yhi=2016" class="gsc_oci_g_a" style="left:104px;height:13px;top:44px;z-index:9"><span class="gsc_oci_g_al">2</span></a><a href="https://scholar.google.com/scholar?oi=bibs&hl=en&cites=7215493245556687552&as_sdt=5&as_ylo=2017&as_yhi=2017" class="gsc_oci_g_a" style="left:137px;height:32px;top:25px;z-index:8"><span class="gsc_oci_g_al">5</span></a><a href="https://scholar.google.com/scholar?oi=bibs&hl=en&cites=7215493245556687552&as_sdt=5&as_ylo=2018&as_yhi=2018" class="gsc_oci_g_a" style="left:170px;height:13px;top:44px;z-index:7"><span class="gsc_oci_g_al">2</span></a><a href="https://scholar.google.com/scholar?oi=bibs&hl=en&cites=7215493245556687552&as_sdt=5&as_ylo=2019&as_yhi=2019" class="gsc_oci_g_a" style="left:203px;height:25px;top:32px;z-index:6"><span class="gsc_oci_g_al">4</span></a><a href="https://scholar.google.com/scholar?oi=bibs&hl=en&cites=7215493245556687552&as_sdt=5&as_ylo=2020&as_yhi=2020" class="gsc_oci_g_a" style="left:236px;height:51px;top:6px;z-index:5"><span class="gsc_oci_g_al">8</span></a><a href="https://scholar.google.com/scholar?oi=bibs&hl=en&cites=7215493245556687552&as_sdt=5&as_ylo=2021&as_yhi=2021" class="gsc_oci_g_a" style="left:269px;height:32px;top:25px;z-index:4"><span class="gsc_oci_g_al">5</span></a><a href="https://scholar.google.com/scholar?oi=bibs&hl=en&cites=7215493245556687552&as_sdt=5&as_ylo=2022&as_yhi=2022" class="gsc_oci_g_a" style="left:302px;height:13px;top:44px;z-index:3"><span class="gsc_oci_g_al">2</span></a><a href="https://scholar.google.com/scholar?oi=bibs&hl=en&cites=7215493245556687552&as_sdt=5&as_ylo=2023&as_yhi=2023" class="gsc_oci_g_a" style="left:335px;height:13px;top:44px;z-index:2"><span class="gsc_oci_g_al">2</span></a><a href="https://scholar.google.com/scholar?oi=bibs&hl=en&cites=7215493245556687552&as_sdt=5&as_ylo=2024&as_yhi=2024" class="gsc_oci_g_a" style="left:368px;height:19px;top:38px;z-index:1"><span class="gsc_oci_g_al">3</span></a></div></div></div></div></div><div class="gs_scl"><div class="gsc_oci_field">Scholar articles</div><div class="gsc_oci_value"><div class="gsc_oci_merged_snippet"><div><a href="/scholar?oi=bibs&cluster=7215493245556687552&btnI=1&hl=en">Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye</a></div><div>S Sharma, KP Burdon, G Chidlow, S Klebe, A Crawford… - Investigative ophthalmology & visual science, 2012</div><div><a class="gsc_oms_link" href="https://scholar.google.com/scholar?oi=bibs&hl=en&cites=7215493245556687552&as_sdt=5">Cited by 53</a> <a class="gsc_oms_link" href="https://scholar.google.com/scholar?oi=bibs&hl=en&q=related:wAKjpOCUImQJ:scholar.google.com/">Related articles</a> <a class="gsc_oms_link" href="https://scholar.google.com/scholar?oi=bibs&hl=en&cluster=7215493245556687552">All 16 versions</a> </div></div></div></div></div></div></div></div><div id="gs_ftr_sp" role="presentation"></div><div id="gs_ftr" class="gs_md_rmb" role="contentinfo"><div id="gs_ftr_rt"><a href="//www.google.com/intl/en/policies/privacy/">Privacy</a><a href="//www.google.com/intl/en/policies/terms/">Terms</a><a href="javascript:void(0)" ontouchstart="gs_evt_dsp(event)" role="button" aria-controls="gs_ftr_mnu" aria-haspopup="true" class="gs_press gs_md_tb">Help</a></div><div id="gs_ftr_mnu" class="gs_md_d gs_md_ds gs_ttzi gs_md_ulr" role="menu" tabindex="-1"><a role="menuitem" href="/intl/en/scholar/about.html" tabindex="-1" class="gs_md_li">About Scholar</a><a role="menuitem" href="//support.google.com/websearch?p=scholar_dsa&hl=en" tabindex="-1" class="gs_md_li">Search help</a></div></div></div></body></html>