Literature DB >> 27049305

Clinical utility gene card for: Peters plus syndrome.

Jaak Jaeken1, Dirk J Lefeber2, Gert Matthijs3.   

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Year:  2016        PMID： 27049305      PMCID： PMC4970696          DOI： 10.1038/ejhg.2016.32

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  7 in total

1.  Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.

Authors:  E Weh; L M Reis; R C Tyler; D Bick; W J Rhead; S Wallace; T L McGregor; S K Dills; M-C Chao; J C Murray; E V Semina
Journal:  Clin Genet       Date:  2013-09-17       Impact factor: 4.438

2.  Molecular cloning and characterization of a novel human beta1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain.

Authors:  Takashi Sato; Maiko Sato; Katsue Kiyohara; Maki Sogabe; Toshihide Shikanai; Norihiro Kikuchi; Akira Togayachi; Hiroyasu Ishida; Hiromi Ito; Akihiko Kameyama; Masanori Gotoh; Hisashi Narimatsu
Journal:  Glycobiology       Date:  2006-08-09       Impact factor: 4.313

3.  Peters'-plus: a new syndrome.

Authors:  M J van Schooneveld; J W Delleman; F A Beemer; E M Bleeker-Wagemakers
Journal:  Ophthalmic Paediatr Genet       Date:  1984-12

4.  Identification and characterization of abeta1,3-glucosyltransferase that synthesizes the Glc-beta1,3-Fuc disaccharide on thrombospondin type 1 repeats.

Authors:  Krisztina Kozma; Jeremy J Keusch; Björn Hegemann; Kelvin B Luther; Dominique Klein; Daniel Hess; Robert S Haltiwanger; Jan Hofsteenge
Journal:  J Biol Chem       Date:  2006-10-10       Impact factor: 5.157

5.  Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.

Authors:  Saskia A J Lesnik Oberstein; Marjolein Kriek; Stefan J White; Margot E Kalf; Karoly Szuhai; Johan T den Dunnen; Martijn H Breuning; Raoul C M Hennekam
Journal:  Am J Hum Genet       Date:  2006-07-19       Impact factor: 11.025

6.  Long-term visual prognosis in children after corneal transplant surgery for Peters anomaly type I.

Authors:  Gerald W Zaidman; Jessica K Flanagan; Catherine C Furey
Journal:  Am J Ophthalmol       Date:  2007-07       Impact factor: 5.258

7.  Prenatal diagnosis of fetal peters' plus syndrome: a case report.

Authors:  Neerja Gupta; Anita Kaul; Madhulika Kabra
Journal:  Case Rep Genet       Date:  2013-07-29
  7 in total
  2 in total

1.  O-fucosylation stabilizes the TSR3 motif in thrombospondin-1 by interacting with nearby amino acids and protecting a disulfide bond.

Authors:  Steven J Berardinelli; Alexander Eletsky; Jessika Valero-González; Atsuko Ito; Rajashri Manjunath; Ramon Hurtado-Guerrero; James H Prestegard; Robert J Woods; Robert S Haltiwanger
Journal:  J Biol Chem       Date:  2022-05-18       Impact factor: 5.486

2.  Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining.

Authors:  Justyna Totoń-Żurańska; Przemysław Kapusta; Magda Rybak-Krzyszkowska; Katarzyna Lorenc; Julita Machlowska; Anna Skalniak; Erita Filipek; Dorota Pawlik; Paweł P Wołkow
Journal:  Int J Mol Sci       Date:  2019-11-28       Impact factor: 5.923
  2 in total

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