PMC Links for GEO Profiles (Select 132275229) - PMC

Select item 78119931.

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

Owen M Siggs, Mona S Awadalla, Emmanuelle Souzeau, Sandra E Staffieri, Lisa S Kearns, Kate Laurie, Abraham Kuot, Ayub Qassim, Thomas L Edwards, Michael A Coote, Erica Mancel, Mark J Walland, Joanne Dondey, Anna Galanopoulous, Robert J Casson, Richard A Mills, Daniel G MacArthur, Jonathan B Ruddle, Kathryn P Burdon, Jamie E Craig

Clin Genet. Author manuscript; available in PMC 2021 Jan 18.

Published in final edited form as: Clin Genet. 2020 May; 97(5): 764–769. Published online 2020 Mar 5. doi: 10.1111/cge.13722

PMCID:: PMC7811993

Abstract Article PDF–755K

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 76423273.

A trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export

Dick J. H. van den Boomen, Agata Sienkiewicz, Ilana Berlin, Marlieke L. M. Jongsma, Daphne M. van Elsland, J. Paul Luzio, Jacques J. C. Neefjes, Paul J. Lehner

Nat Commun. 2020; 11: 5559. Published online 2020 Nov 3. doi: 10.1038/s41467-020-19032-0

PMCID:: PMC7642327

Abstract Article PDF–12M

Select item 72723414.

Loss of PRSS56 function leads to ocular angle defects and increased susceptibility to high intraocular pressure

Cassandre Labelle-Dumais, Goutham Pyatla, Seyyedhassan Paylakhi, Nicholas G. Tolman, Syed Hameed, Yusef Seymens, Eric Dang, Anil K. Mandal, Sirisha Senthil, Rohit C. Khanna, Meha Kabra, Inderjeet Kaur, Simon W. M. John, Subhabrata Chakrabarti, K. Saidas Nair

Dis Model Mech. 2020 May 1; 13(5): dmm042853. Published online 2020 May 29. doi: 10.1242/dmm.042853

PMCID:: PMC7272341

Abstract Article

Select item 69872345.

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 69420446.

Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity

Jae Jin Kim, Seo Yun Lee, Fade Gong, Anna M. Battenhouse, Daniel R. Boutz, Aarti Bashyal, Samantha T. Refvik, Cheng-Ming Chiang, Blerta Xhemalce, Tanya T. Paull, Jennifer S. Brodbelt, Edward M. Marcotte, Kyle M. Miller

Genes Dev. 2019 Dec 1; 33(23-24): 1751–1774. doi: 10.1101/gad.331231.119

PMCID:: PMC6942044

Abstract Article PDF–10M

Select item 67781377.

The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis

Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino

Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9

PMCID:: PMC6778137

Abstract Article PDF–7.8M

Select item 62196338.

ΔNp63α Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas

Christopher G. Abraham, Michael P. Ludwig, Zdenek Andrysik, Ahwan Pandey, Molishree Joshi, Matthew D. Galbraith, Kelly D. Sullivan, Joaquin M. Espinosa

Cell Rep. Author manuscript; available in PMC 2018 Nov 6.

Published in final edited form as: Cell Rep. 2018 Sep 18; 24(12): 3224–3236. doi: 10.1016/j.celrep.2018.08.058

PMCID:: PMC6219633

Abstract Article PDF–1.1M

Select item 54610319.

Assembly of the U5 snRNP component PRPF8 is controlled by the HSP90/R2TP chaperones

Anna Malinová, Zuzana Cvačková, Daniel Matějů, Zuzana Hořejší, Claire Abéza, Franck Vandermoere, Edouard Bertrand, David Staněk, Céline Verheggen

J Cell Biol. 2017 Jun 5; 216(6): 1579–1596. doi: 10.1083/jcb.201701165

PMCID:: PMC5461031

Abstract Article PDF–2.9M

Select item 438806010.

Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalamia in humans and mice

K Saidas Nair, Mounira Hmani-Aifa, Zain Ali, Alison L Kearney, Salma Ben Salem, Danilo G Macalinao, Ioan M Cosma, Walid Bouassida, Bochra Hakim, Zeineb Benzina, Ileana Soto, Peter Söderkvist, Gareth R Howell, Richard S Smith, Hammadi Ayadi, Simon W M John

Nat Genet. Author manuscript; available in PMC 2015 Apr 7.

Published in final edited form as: Nat Genet. 2011 Jun; 43(6): 579–584. Published online 2011 May 1. doi: 10.1038/ng.813

PMCID:: PMC4388060

Abstract Article PDF–1.3M

Select item 382042811.

Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma

Dan Jiang, Zhikuan Yang, Shiqiang Li, Xueshan Xiao, Xiaoyun Jia, Panfeng Wang, Xiangming Guo, Xing Liu, Qingjiong Zhang

Mol Vis. 2013; 19: 2217–2226. Published online 2013 Nov 7.

PMCID:: PMC3820428

Abstract Article PDF–1.8M

Select item 374056812.

Genome-wide meta-analyses of multi-ethnic cohorts identify multiple new susceptibility loci for refractive error and myopia

Virginie J.M. Verhoeven, Pirro G. Hysi, Robert Wojciechowski, Qiao Fan, Jeremy A. Guggenheim, René Höhn, Stuart MacGregor, Alex W. Hewitt, Abhishek Nag, Ching-Yu Cheng, Ekaterina Yonova-Doing, Xin Zhou, M. Kamran Ikram, Gabriëlle H.S. Buitendijk, George McMahon, John P. Kemp, Beate St. Pourcain, Claire L. Simpson, Kari-Matti Mäkelä, Terho Lehtimäki, Mika Kähönen, Andrew D. Paterson, S. Mohsen Hosseini, Hoi Suen Wong, Liang Xu, Jost B. Jonas, Olavi Pärssinen, Juho Wedenoja, Shea Ping Yip, Daniel W. H. Ho, Chi Pui Pang, Li Jia Chen, Kathryn P. Burdon, Jamie E. Craig, Barbara E. K. Klein, Ronald Klein, Toomas Haller, Andres Metspalu, Chiea-Chuen Khor, E-Shyong Tai, Tin Aung, Eranga Vithana, Wan-Ting Tay, Veluchamy A. Barathi, CREAM, Peng Chen, Ruoying Li, Jiemin Liao, Yingfeng Zheng, Rick T. Ong, Angela Döring, DCCT/EDIC Research Group, David M. Evans, Nicholas J. Timpson, Annemieke J.M.H. Verkerk, Thomas Meitinger, Olli Raitakari, Felicia Hawthorne, Tim D. Spector, Lennart C. Karssen, Mario Pirastu, Federico Murgia, Wei Ang, WTCCC2, Aniket Mishra, Grant W. Montgomery, Craig E. Pennell, Phillippa M. Cumberland, Ioana Cotlarciuc, Paul Mitchell, Jie Jin Wang, Maria Schache, Sarayut Janmahasathian, Robert P. Igo, Jr, Jonathan H. Lass, Emily Chew, Sudha K. Iyengar, the Fuchs’ Genetics Multi-Center Study Group, Theo G.M.F. Gorgels, Igor Rudan, Caroline Hayward, Alan F. Wright, Ozren Polasek, Zoran Vatavuk, James F. Wilson, Brian Fleck, Tanja Zeller, Alireza Mirshahi, Christian Müller, Andre’ G. Uitterlinden, Fernando Rivadeneira, Johannes R. Vingerling, Albert Hofman, Ben A. Oostra, Najaf Amin, Arthur A.B. Bergen, Yik-Ying Teo, Jugnoo S. Rahi, Veronique Vitart, Cathy Williams, Paul N. Baird, Tien-Yin Wong, Konrad Oexle, Norbert Pfeiffer, David A. Mackey, Terri L. Young, Cornelia M. van Duijn, Seang-Mei Saw, Joan E. Bailey Wilson, Dwight Stambolian, Caroline C. Klaver, Christopher J. Hammond

Nat Genet. Author manuscript; available in PMC 2013 Sep 1.

Published in final edited form as: Nat Genet. 2013 Mar; 45(3): 314–318. Published online 2013 Feb 10. doi: 10.1038/ng.2554

Correction in:: volume 45 on page 712

PMCID:: PMC3740568

Abstract Article PDF–575K

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

Select item 313755714.

Mutations in a novel serine protease PRSS56 in families with nanophthalmos

Andrew Orr, Marie-Pierre Dubé, Juan C. Zenteno, Haiyan Jiang, Geraldine Asselin, Susan C. Evans, Aurore Caqueret, Hesham Lakosha, Louis Letourneau, Julien Marcadier, Makoto Matsuoka, Christine Macgillivray, Mathew Nightingale, Simon Papillon-Cavanagh, Scott Perry, Sylvie Provost, Mark Ludman, Duane L. Guernsey, Mark E. Samuels

Mol Vis. 2011; 17: 1850–1861. Published online 2011 Jul 12.

PMCID:: PMC3137557

Abstract Article PDF–11M

Select item 305941715.

Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease

Andreas Gal, Isabella Rau, Leila El Matri, Hans-Jürgen Kreienkamp, Susanne Fehr, Karim Baklouti, Ibtissem Chouchane, Yun Li, Monika Rehbein, Josefine Fuchs, Hans C. Fledelius, Kaj Vilhelmsen, Daniel F. Schorderet, Francis L. Munier, Elsebet Ostergaard, Debra A. Thompson, Thomas Rosenberg

Am J Hum Genet. 2011 Mar 11; 88(3): 382–390. doi: 10.1016/j.ajhg.2011.02.006

PMCID:: PMC3059417

Abstract Article PDF–1.2M

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