Literature DB >> 9042917

Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.

K Devriendt1, G Matthijs, E Legius, E Schollen, D Blockmans, C van Geet, H Degreef, J J Cassiman, J P Fryns.   

Abstract

In this study, we report on a family with X-linked dyskeratosis congenita (DC). Linkage analysis with markers in the factor VIII gene at Xq28 yielded a LOD score of 2 at a recombination of 0. Clinical manifestations of DC, such as skin lesions following the Blaschko lines, were present in two obligate carrier females. Highly skewed X inactivation was observed in white blood cells, cultured skin fibroblasts, and buccal mucosa from female carriers of DC in this family. This suggests a critical role for the DC gene in bone marrow-cell and fibroblast-cell proliferation.

Entities:  

Mesh：

Year:  1997        PMID： 9042917      PMCID： PMC1712491     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  20 in total

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Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

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Journal:  Cancer Res       Date:  1987-09-15       Impact factor: 12.701

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Authors:  G M Lathrop; J M Lalouel
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

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Authors:  J M Connor; D Gatherer; F C Gray; L A Pirrit; N A Affara
Journal:  Hum Genet       Date:  1986-04       Impact factor: 4.132

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Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

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Journal:  Am J Med Genet       Date:  1989-01

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Journal:  J Med Genet       Date:  1975-12       Impact factor: 6.318

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Authors:  R Womer; J E Clark; P Wood; H Sabio; T E Kelly
Journal:  Pediatrics       Date:  1983-04       Impact factor: 7.124

10.  Thrombocytopenia: first symptom in a patient with dyskeratosis congenita.

Authors:  K De Boeck; H Degreef; R Verwilghen; L Corbeel; M Casteels-Van Daele
Journal:  Pediatrics       Date:  1981-06       Impact factor: 7.124
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  27 in total

1.  Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation.

Authors:  R M Plenge; L Tranebjaerg; P K Jensen; C Schwartz; H F Willard
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

Review 2.  X chromosome inactivation in clinical practice.

Authors:  Karen Helene Orstavik
Journal:  Hum Genet       Date:  2009-04-25       Impact factor: 4.132

3.  Skewed X chromosome inactivation and trisomic spontaneous abortion: no association.

Authors:  Dorothy Warburton; Jennie Kline; Ann Kinney; Chih-Yu Yu; Bruce Levin; Stephen Brown
Journal:  Am J Hum Genet       Date:  2009-07-30       Impact factor: 11.025

4.  1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.

Authors:  S W Knight; T J Vulliamy; N S Heiss; G Matthijs; K Devriendt; J M Connor; M D'Urso; A Poustka; P J Mason; I Dokal
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

5.  Nonrandom X-chromosome inactivation in hemopoietic cells from carriers of dyskeratosis congenita.

Authors:  A M Ferraris; G L Forni; R Mangerini; G F Gaetani
Journal:  Am J Hum Genet       Date:  1997-08       Impact factor: 11.025

6.  Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review.

Authors:  Neelam Giri; Rees Lee; Albert Faro; Charles B Huddleston; Frances V White; Blanche P Alter; Sharon A Savage
Journal:  BMC Blood Disord       Date:  2011-06-15

7.  Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.

Authors:  Jialin Xu; Payal P Khincha; Neelam Giri; Blanche P Alter; Sharon A Savage; Judy M Y Wong
Journal:  Am J Hematol       Date:  2016-11-04       Impact factor: 10.047

8.  Liver failure due to hepatic angiosarcoma in an adolescent with dyskeratosis congenita.

Authors:  Timothy S Olson; Elaine S Chan; Michele E Paessler; Kathleen E Sullivan; Christopher N Frantz; Piere Russo; Monica Bessler
Journal:  J Pediatr Hematol Oncol       Date:  2014-05       Impact factor: 1.289

Review 9.  Cancer in dyskeratosis congenita.

Authors:  Blanche P Alter; Neelam Giri; Sharon A Savage; Philip S Rosenberg
Journal:  Blood       Date:  2009-03-12       Impact factor: 22.113

10.  X-chromosome inactivation patterns in Korean women with idiopathic recurrent spontaneous abortion.

Authors:  Jin-Woo Kim; So-Yeon Park; Young-Mi Kim; Jin-Mee Kim; Jung-Yeol Han; Hyun-Mee Ryu
Journal:  J Korean Med Sci       Date:  2004-04       Impact factor: 2.153
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