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Literature DB >> 27481636

In silico analysis highlights the copy number variation mechanism responsible for the historically reported VWF exon 42 deletion.

A Cartwright¹, I R Peake¹, A C Goodeve¹, D J Hampshire².

Abstract

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：
von Willebrand Factor

Year: 2016 PMID： 27481636 PMCID： PMC5960579 DOI： 10.1111/hae.13059

Source DB: PubMed Journal: Haemophilia ISSN： 1351-8216 Impact factor: 4.287

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References

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10 in total

1. Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.

Authors: Lisenka E L M Vissers; Samarth S Bhatt; Irene M Janssen; Zhilian Xia; Seema R Lalani; Rolph Pfundt; Katarzyna Derwinska; Bert B A de Vries; Christian Gilissen; Alexander Hoischen; Monika Nesteruk; Barbara Wisniowiecka-Kowalnik; Marta Smyk; Han G Brunner; Sau Wai Cheung; Ad Geurts van Kessel; Joris A Veltman; Pawel Stankiewicz
Journal: Hum Mol Genet Date: 2009-07-03 Impact factor: 6.150

Review 2. Mechanisms underlying structural variant formation in genomic disorders.

Authors: Claudia M B Carvalho; James R Lupski
Journal: Nat Rev Genet Date: 2016-02-29 Impact factor: 53.242

3. Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?

Authors: Mouna Messaoud Khelifi; Aliya Ishmukhametova; Philippe Khau Van Kien; Delphine Thorel; Déborah Méchin; Serge Perelman; Jean Pouget; Mireille Claustres; Sylvie Tuffery-Giraud
Journal: Hum Mutat Date: 2011-03-10 Impact factor: 4.878

4. Severe type III von Willebrand's disease caused by deletion of exon 42 of the von Willebrand factor gene: family studies that identify carriers of the condition and a compound heterozygous individual.

Authors: I R Peake; M B Liddell; P Moodie; G Standen; D J Mancuso; E A Tuley; L A Westfield; J M Sorace; J E Sadler; C L Verweij
Journal: Blood Date: 1990-02-01 Impact factor: 22.113

5. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders.

Authors: Jennifer A Lee; Claudia M B Carvalho; James R Lupski
Journal: Cell Date: 2007-12-28 Impact factor: 41.582

6. Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.

Authors: Daniel J Hampshire; Adel M Abuzenadah; Ashley Cartwright; Nawal S Al-Shammari; Rachael E Coyle; Michaela Eckert; Ahlam M Al-Buhairan; Sarah L Messenger; Ulrich Budde; Türkiz Gürsel; Jørgen Ingerslev; Ian R Peake; Anne C Goodeve
Journal: Thromb Haemost Date: 2013-05-23 Impact factor: 5.249

In silico analysis highlights the copy number variation mechanism responsible for the historically reported VWF exon 42 deletion.

1. Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.

Review 2. Mechanisms underlying structural variant formation in genomic disorders.

3. Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?

4. Severe type III von Willebrand's disease caused by deletion of exon 42 of the von Willebrand factor gene: family studies that identify carriers of the condition and a compound heterozygous individual.

5. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders.

6. Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.

7. A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3.

8. In-frame deletion of von Willebrand factor A domains in a dominant type of von Willebrand disease.

9. Replicative mechanisms for CNV formation are error prone.

Review 10. A microhomology-mediated break-induced replication model for the origin of human copy number variation.