PMC Links for GEO Profiles (Select 125250387) - PMC

Select item 95787071.

Identification of orphan ligand-receptor relationships using a cell-based CRISPRa enrichment screening platform

Dirk H Siepe, Lukas T Henneberg, Steven C Wilson, Gaelen T Hess, Michael C Bassik, Kai Zinn, K Christopher Garcia

eLife. 2022; 11: e81398. Published online 2022 Sep 30. doi: 10.7554/eLife.81398

PMCID:: PMC9578707

Select item 76721122.

Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort

Lev Prasov, Bin Guan, Ehsan Ullah, Steven M. Archer, Bernadete M. Ayres, Cagri G. Besirli, Laurel Wiinikka-Buesser, Grant M. Comer, Monte A. Del Monte, Susan G. Elner, Sarah J. Garnai, Laryssa A. Huryn, Kayla Johnson, Shivani S. Kamat, Philip Lieu, Shahzad I. Mian, Christine A. Rygiel, Jasmine Y. Serpen, Hemant S. Pawar, Brian P. Brooks, Sayoko E. Moroi, Julia E. Richards, Robert B. Hufnagel

Sci Rep. 2020; 10: 19986. Published online 2020 Nov 17. doi: 10.1038/s41598-020-76725-8

PMCID:: PMC7672112

Abstract Article PDF–6.3M

Select item 69872343.

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

Basamat Almoallem, Gavin Arno, Julie De Zaeytijd, Hannah Verdin, Irina Balikova, Ingele Casteels, Thomy de Ravel, Sarah Hull, Martina Suzani, Anne Destrée, Michelle Peng, Denise Williams, John R. Ainsworth, Andrew R. Webster, Bart P. Leroy, Anthony T. Moore, Elfride De Baere

Sci Rep. 2020; 10: 1289. Published online 2020 Jan 28. doi: 10.1038/s41598-019-57338-2

PMCID:: PMC6987234

Abstract Article PDF–3.7M

Select item 39939334.

The macular degeneration-linked C1QTNF5 (S163) mutation causes higher-order structural rearrangements

Xiongying Tu, Krzysztof Palczewski

J Struct Biol. Author manuscript; available in PMC 2015 Apr 1.

Published in final edited form as: J Struct Biol. 2014 Apr; 186(1): 86–94. Published online 2014 Feb 12. doi: 10.1016/j.jsb.2014.02.001

PMCID:: PMC3993933

Abstract Article PDF–2.0M

Select item 35590955.

Association of frizzled-related protein (MFRP) and heat shock protein 70 (HSP70) single nucleotide polymorphisms with primary angle closure in a Han Chinese population: Jiangsu Eye Study

Haihong Shi, Rongrong Zhu, Nan Hu, Jian Shi, Junfang Zhang, Linjuan Jiang, Hong Jiang, Huaijin Guan

Mol Vis. 2013; 19: 128–134. Published online 2013 Jan 28.

PMCID:: PMC3559095

Abstract Article PDF–397K

Select item 34821756.

Membrane frizzled-related protein gene–related ophthalmological syndrome: 30-month follow-up of a sporadic case and review of genotype-phenotype correlation in the literature

Alberto Neri, Rosachiara Leaci, Juan C. Zenteno, Cristina Casubolo, Elisabetta Delfini, Claudio Macaluso

Mol Vis. 2012; 18: 2623–2632. Published online 2012 Oct 26.

PMCID:: PMC3482175

Abstract Article PDF–4.0M

Select item 34293577.

A cross-ethnicity investigation of genes previously implicated in primary angle closure glaucoma

Mona S. Awadalla, Kathryn P. Burdon, Suman S. Thapa, Alex W. Hewitt, Jamie E. Craig

Mol Vis. 2012; 18: 2247–2254. Published online 2012 Aug 10.

PMCID:: PMC3429357

Abstract Article PDF–466K

Select item 33514118.

Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa

Chitra Kannabiran, Hardeep Singh, Nishika Sahini, Subhadra Jalali, Gayathri Mohan

Mol Vis. 2012; 18: 1165–1174. Published online 2012 May 4.

PMCID:: PMC3351411

Abstract Article PDF–4.5M

Select item 28468519.

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy

Rajarshi Mukhopadhyay, Panagiotis I. Sergouniotis, Donna S. Mackay, Alexander C. Day, Genevieve Wright, Sophie Devery, Bart P. Leroy, Anthony G. Robson, Graham E. Holder, Zheng Li, Andrew R. Webster

Mol Vis. 2010; 16: 540–548. Published online 2010 Mar 26.

PMCID:: PMC2846851

Abstract Article PDF–1.5M

Select item 274264110.

Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex

Juan Carlos Zenteno, Beatriz Buentello-Volante, Miguel A. Quiroz-González, Miguel A. Quiroz-Reyes

Mol Vis. 2009; 15: 1794–1798. Published online 2009 Sep 5.

PMCID:: PMC2742641

Abstract Article PDF–1.5M

Select item 273962711.

Developmental Basis of Nanophthalmos: MFRP is Required for both Prenatal Ocular Growth and Postnatal Emmetropization

Olof H. Sundin, Sharola Dharmaraj, Imran A. Bhutto, Takuya Hasegawa, D. Scott McLeod, Carol A. Merges, Eduardo D. Silva, Irene H. Maumenee, Gerard A. Lutty

Ophthalmic Genet. Author manuscript; available in PMC 2009 Sep 8.

Published in final edited form as: Ophthalmic Genet. 2008 Mar; 29(1): 1–9. doi: 10.1080/13816810701651241

PMCID:: PMC2739627

Abstract Article PDF–2.4M

Select item 262973712.

Evaluation of MFRP as a candidate gene for high hyperopia

Panfeng Wang, Zhikuan Yang, Shiqiang Li, Xueshan Xiao, Xiangming Guo, Qingjiong Zhang

Mol Vis. 2009; 15: 181–186. Published online 2009 Jan 23.

PMCID:: PMC2629737

Abstract Article PDF–2.0M

Select item 253270313.

The association of membrane frizzled-related protein (MFRP) gene with acute angle-closure glaucoma – a pilot study

I-Jong Wang, Shan Lin, Ting-Hsuan Chiang, Zoe Tzu-Yi Chen, Luke L.K. Lin, Por-Tying Hung, Yung-Feng Shih

Mol Vis. 2008; 14: 1673–1679. Published online 2008 Sep 8.

PMCID:: PMC2532703

Abstract Article PDF–963K

Select item 248047914.

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

Abstract Article PDF–1.4M

Select item 226885215.

Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia

Ravikanth Metlapally, Yi-Ju Li, Khanh-Nhat Tran-Viet, Anuradha Bulusu, Tristan R. White, Jaclyn Ellis, Daniel Kao, Terri L. Young

Mol Vis. 2008; 14: 387–393. Published online 2008 Mar 4.

PMCID:: PMC2268852

Abstract Article PDF–686K

Select item 117224316.

Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein

Olof H. Sundin, Gregory S. Leppert, Eduardo D. Silva, Jun-Ming Yang, Sharola Dharmaraj, Irene H. Maumenee, Luisa Coutinho Santos, Cameron F. Parsa, Elias I. Traboulsi, Karl W. Broman, Cathy DiBernardo, Janet S. Sunness, Jeffrey Toy, Ethan M. Weinberg

Proc Natl Acad Sci U S A. 2005 Jul 5; 102(27): 9553–9558. Published online 2005 Jun 23. doi: 10.1073/pnas.0501451102

PMCID:: PMC1172243

Abstract Article PDF–861K

Select item 13924117.

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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