Literature DB >> 27394683

Splice-Site Mutation of Exon 3 Deletion in the Gamma-Glutamyl Carboxylase Gene Causes Inactivation of the Enzyme.

Da-Yun Jin1, Cees Vermeer2, Darrel W Stafford1, Jian-Ke Tie3.   

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Year:  2016        PMID： 27394683      PMCID： PMC5077674          DOI： 10.1016/j.jid.2016.05.128

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  14 in total

1.  Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.

Authors:  Olivier M Vanakker; Ludovic Martin; Dealba Gheduzzi; Bart P Leroy; Bart L Loeys; Veronica I Guerci; Dirk Matthys; Sharon F Terry; Paul J Coucke; Ivonne Pasquali-Ronchetti; Anne De Paepe
Journal:  J Invest Dermatol       Date:  2006-11-16       Impact factor: 8.551

2.  Generalized pseudoxanthoma elasticum with deficiency of vitamin K-dependent clotting factors.

Authors:  F Rongioletti; R Bertamino; A Rebora
Journal:  J Am Acad Dermatol       Date:  1989-11       Impact factor: 11.527

3.  Characterization of vitamin K-dependent carboxylase mutations that cause bleeding and nonbleeding disorders.

Authors:  Jian-Ke Tie; Jorge D A Carneiro; Da-Yun Jin; Ciro D Martinhago; Cees Vermeer; Darrel W Stafford
Journal:  Blood       Date:  2016-01-12       Impact factor: 22.113

4.  A topological study of the human gamma-glutamyl carboxylase.

Authors:  J Tie; S M Wu; D Jin; C V Nicchitta; D W Stafford
Journal:  Blood       Date:  2000-08-01       Impact factor: 22.113

5.  Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease.

Authors:  Lisa Gallinaro; Francesca Sartorello; Elena Pontara; Maria Grazia Cattini; Antonella Bertomoro; Lucia Bartoloni; Antonio Pagnan; Alessandra Casonato
Journal:  Thromb Haemost       Date:  2006-12       Impact factor: 5.249

6.  Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA.

Authors:  H Mikkola; L Muszbek; E Laiho; M Syrjälä; E Hämäläinen; G Haramura; T Salmi; L Peltonen; A Palotie
Journal:  Blood       Date:  1997-02-15       Impact factor: 22.113

7.  Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

Authors:  Michael Krawczak; Nick S T Thomas; Bernd Hundrieser; Matthew Mort; Michael Wittig; Jochen Hampe; David N Cooper
Journal:  Hum Mutat       Date:  2007-02       Impact factor: 4.878

Review 8.  Hereditary combined deficiency of the vitamin K-dependent clotting factors.

Authors:  Mariasanta Napolitano; Guglielmo Mariani; Mario Lapecorella
Journal:  Orphanet J Rare Dis       Date:  2010-07-14       Impact factor: 4.123

9.  Determination of disulfide bond assignment of human vitamin K-dependent gamma-glutamyl carboxylase by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.

Authors:  Jian-Ke Tie; Vasantha P Mutucumarana; David L Straight; Kevin L Carrick; R Marshall Pope; Darrel W Stafford
Journal:  J Biol Chem       Date:  2003-09-08       Impact factor: 5.157

10.  Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.

Authors:  Ariana Kariminejad; Bita Bozorgmehr; Abdolhamid Najafi; Atefeh Khoshaeen; Maryam Ghalandari; Hossein Najmabadi; Mohamad H Kariminejad; Olivier M Vanakker; Mohammad J Hosen; Fransiska Malfait; Daniela Quaglino; Ralph J Florijn; Arthur A B Bergen; Raoul C Hennekam
Journal:  J Invest Dermatol       Date:  2014-04-16       Impact factor: 8.551
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  4 in total

1.  Exon 2 skipping eliminates γ-glutamyl carboxylase activity, indicating a partial splicing defect in a patient with vitamin K clotting factor deficiency.

Authors:  Mark A Rishavy; Kevin W Hallgren; Haitao Zhang; Kurt W Runge; Kathleen L Berkner
Journal:  J Thromb Haemost       Date:  2019-06-07       Impact factor: 5.824

2.  Warfarin and vitamin K epoxide reductase: a molecular accounting for observed inhibition.

Authors:  Sangwook Wu; Xuejie Chen; Da-Yun Jin; Darrel W Stafford; Lee G Pedersen; Jian-Ke Tie
Journal:  Blood       Date:  2018-05-09       Impact factor: 22.113

Review 3.  GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.

Authors:  Eva Y G De Vilder; Jens Debacker; Olivier M Vanakker
Journal:  Int J Mol Sci       Date:  2017-01-25       Impact factor: 5.923

4.  Characterization of missense mutations in the signal peptide and propeptide of FIX in hemophilia B by a cell-based assay.

Authors:  Wenwen Gao; Yaqi Xu; Hongli Liu; Meng Gao; Qing Cao; Yiyi Wang; Longteng Cui; Rong Huang; Yan Shen; Sanqiang Li; Haiping Yang; Yixiang Chen; Chaokun Li; Haichuan Yu; Weikai Li; Guomin Shen
Journal:  Blood Adv       Date:  2020-08-11
  4 in total

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