Literature DB >> 19796186

Novel B3GALTL mutation in Peters-plus Syndrome.

J Dassie-Ajdid, A Causse, A Poidvin, M Granier, J Kaplan, L Burglen, D Doummar, P Teisseire, A Vigouroux, F Malecaze, P Calvas, N Chassaing.   

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Year:  2009        PMID： 19796186     DOI： 10.1111/j.1399-0004.2009.01253.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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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

Review 2.  Genetics of anterior segment dysgenesis disorders.

Authors:  Linda M Reis; Elena V Semina
Journal:  Curr Opin Ophthalmol       Date:  2011-09       Impact factor: 3.761

3.  ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.

Authors:  Bernadette C Holdener; Christopher J Percival; Richard C Grady; Daniel C Cameron; Steven J Berardinelli; Ao Zhang; Sanjiv Neupane; Megumi Takeuchi; Javier C Jimenez-Vega; Sardar M Z Uddin; David E Komatsu; Robert Honkanen; Johanne Dubail; Suneel S Apte; Takashi Sato; Hisashi Narimatsu; Steve A McClain; Robert S Haltiwanger
Journal:  Hum Mol Genet       Date:  2019-12-15       Impact factor: 6.150

4.  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

Review 5.  Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.

Authors:  D Marques-da-Silva; R Francisco; D Webster; V Dos Reis Ferreira; J Jaeken; T Pulinilkunnil
Journal:  J Inherit Metab Dis       Date:  2017-07-19       Impact factor: 4.982

6.  Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome.

Authors:  Eric Weh; Hideyuki Takeuchi; Sanaa Muheisen; Robert S Haltiwanger; Elena V Semina
Journal:  PLoS One       Date:  2017-09-19       Impact factor: 3.240

7.  A mutation in DOP1B identified as a probable cause for autosomal recessive Peters anomaly in a consanguineous family.

Authors:  Ensieh Darbari; Davood Zare-Abdollahi; Afagh Alavi; Mozhgan Rezaei Kanavi; Sepehr Feizi; Seyed Bagher Hosseini; Alireza Baradaran-Rafii; Hamid Ahmadieh; Shohreh Issazadeh-Navikas; Elahe Elahi
Journal:  Mol Vis       Date:  2020-11-25       Impact factor: 2.367
  7 in total

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