Literature DB >> 33801495

An Assessment of GUCA1C Variants in Primary Congenital Glaucoma.

Emmanuelle Souzeau1, Nicole Weisschuh2, Jamie E Craig1, Francesca Pasutto3, Karl-Wilhelm Koch4,5.   

Abstract

In the special issue "Molecular Genetics of Retinal Dystrophies", Morales-Cámara and colleagues reported the association of a new candidate gene with primary congenital glaucoma (PCG) [...].

Entities:  

Keywords:  GCAP3; GUCA1C; primary congenital glaucoma

Year:  2021        PMID： 33801495      PMCID： PMC7998521          DOI： 10.3390/genes12030359

Source DB:  PubMed          Journal:  Genes (Basel)        ISSN： 2073-4425            Impact factor:   4.096


  29 in total

1.  Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.

Authors:  Natasha T Strande; Erin Rooney Riggs; Adam H Buchanan; Ozge Ceyhan-Birsoy; Marina DiStefano; Selina S Dwight; Jenny Goldstein; Rajarshi Ghosh; Bryce A Seifert; Tam P Sneddon; Matt W Wright; Laura V Milko; J Michael Cherry; Monica A Giovanni; Michael F Murray; Julianne M O'Daniel; Erin M Ramos; Avni B Santani; Alan F Scott; Sharon E Plon; Heidi L Rehm; Christa L Martin; Jonathan S Berg
Journal:  Am J Hum Genet       Date:  2017-05-25       Impact factor: 11.025

Review 2.  A calcium-relay mechanism in vertebrate phototransduction.

Authors:  Karl-Wilhelm Koch; Daniele Dell'orco
Journal:  ACS Chem Neurosci       Date:  2013-03-21       Impact factor: 4.418

3.  A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes disease.

Authors:  Takahito Wada; Marie Reine Haddad; Ling Yi; Tomomi Murakami; Akiko Sasaki; Hiroko Shimbo; Hiroko Kodama; Hitoshi Osaka; Stephen G Kaler
Journal:  Pediatr Neurol       Date:  2014-01-05       Impact factor: 3.372

Review 4.  When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

Authors:  L E Maquat
Journal:  RNA       Date:  1995-07       Impact factor: 4.942

5.  Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.

Authors:  Owen M Siggs; Emmanuelle Souzeau; Francesca Pasutto; Andrew Dubowsky; James E H Smith; Deepa Taranath; John Pater; Julian L Rait; Andrew Narita; Lucia Mauri; Alessandra Del Longo; André Reis; Angela Chappell; Lisa S Kearns; Sandra E Staffieri; James E Elder; Jonathan B Ruddle; Alex W Hewitt; Kathryn P Burdon; David A Mackey; Jamie E Craig
Journal:  JAMA Ophthalmol       Date:  2019-04-01       Impact factor: 7.389

Review 6.  Regulation of intraocular pressure by soluble and membrane guanylate cyclases and their role in glaucoma.

Authors:  Emmanuel S Buys; Lincoln R Potter; Louis R Pasquale; Bruce R Ksander
Journal:  Front Mol Neurosci       Date:  2014-05-19       Impact factor: 5.639

7.  The British Infantile and Childhood Glaucoma (BIG) Eye Study.

Authors:  Maria Papadopoulos; Noriko Cable; Jugnoo Rahi; Peng Tee Khaw
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-09       Impact factor: 4.799

8.  Functional coupling of a Ca2+/calmodulin-dependent nitric oxide synthase and a soluble guanylyl cyclase in vertebrate photoreceptor cells.

Authors:  K W Koch; H G Lambrecht; M Haberecht; D Redburn; H H Schmidt
Journal:  EMBO J       Date:  1994-07-15       Impact factor: 11.598

9.  Using high-resolution variant frequencies to empower clinical genome interpretation.

Authors:  Nicola Whiffin; Eric Minikel; Roddy Walsh; Anne H O'Donnell-Luria; Konrad Karczewski; Alexander Y Ing; Paul J R Barton; Birgit Funke; Stuart A Cook; Daniel MacArthur; James S Ware
Journal:  Genet Med       Date:  2017-05-18       Impact factor: 8.822

10.  The mutational constraint spectrum quantified from variation in 141,456 humans.

Authors:  Konrad J Karczewski; Laurent C Francioli; Grace Tiao; Beryl B Cummings; Jessica Alföldi; Qingbo Wang; Ryan L Collins; Kristen M Laricchia; Andrea Ganna; Daniel P Birnbaum; Laura D Gauthier; Harrison Brand; Matthew Solomonson; Nicholas A Watts; Daniel Rhodes; Moriel Singer-Berk; Eleina M England; Eleanor G Seaby; Jack A Kosmicki; Raymond K Walters; Katherine Tashman; Yossi Farjoun; Eric Banks; Timothy Poterba; Arcturus Wang; Cotton Seed; Nicola Whiffin; Jessica X Chong; Kaitlin E Samocha; Emma Pierce-Hoffman; Zachary Zappala; Anne H O'Donnell-Luria; Eric Vallabh Minikel; Ben Weisburd; Monkol Lek; James S Ware; Christopher Vittal; Irina M Armean; Louis Bergelson; Kristian Cibulskis; Kristen M Connolly; Miguel Covarrubias; Stacey Donnelly; Steven Ferriera; Stacey Gabriel; Jeff Gentry; Namrata Gupta; Thibault Jeandet; Diane Kaplan; Christopher Llanwarne; Ruchi Munshi; Sam Novod; Nikelle Petrillo; David Roazen; Valentin Ruano-Rubio; Andrea Saltzman; Molly Schleicher; Jose Soto; Kathleen Tibbetts; Charlotte Tolonen; Gordon Wade; Michael E Talkowski; Benjamin M Neale; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2020-05-27       Impact factor: 69.504
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  2 in total

Review 1.  Animal Model Contributions to Primary Congenital Glaucoma.

Authors:  Qiongrong Xia; Dingding Zhang; Yue Zhuang; Yuqian Dai; Haiping Jia; Qiu Du; Taishen Wen; Yuanyuan Jiang
Journal:  J Ophthalmol       Date:  2022-05-26       Impact factor: 1.974

2.  Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa.

Authors:  Anna Avesani; Laura Bielefeld; Nicole Weisschuh; Valerio Marino; Pascale Mazzola; Katarina Stingl; Tobias B Haack; Karl-Wilhelm Koch; Daniele Dell'Orco
Journal:  Int J Mol Sci       Date:  2022-03-17       Impact factor: 5.923
  2 in total

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