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Literature DB >> 20626622

A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia.

F Punzo, E J Mientjes, C F Rohe, S Scianguetta, G Amendola, B A Oostra, A M Bertoli-Avella, S Perrotta.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2010 PMID： 20626622 DOI： 10.1111/j.1538-7836.2010.03979.x

Source DB: PubMed Journal: J Thromb Haemost ISSN： 1538-7836 Impact factor: 5.824

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Cited

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8 in total

1. Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia.

Authors: Majed J Dasouki; Syed K Rafi; Adam J Olm-Shipman; Nathan R Wilson; Sunil Abhyankar; Brigitte Ganter; L Mike Furness; Jianwen Fang; Rodrigo T Calado; Irfan Saadi
Journal: Blood Date: 2013-10-01 Impact factor: 22.113

2. A new family with a germline ANKRD26 mutation and predisposition to myeloid malignancies.

Authors: Rafael Marquez; Andrew Hantel; Rachelle Lorenz; Barbara Neistadt; Jerry Wong; Jane E Churpek; Nameer Al Mardini; Ismael Shaukat; Sandeep Gurbuxani; Jonathan L Miller; Lucy A Godley
Journal: Leuk Lymphoma Date: 2014-04-22

3. Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

Authors: Tommaso Pippucci; Anna Savoia; Silverio Perrotta; Núria Pujol-Moix; Patrizia Noris; Giovanni Castegnaro; Alessandro Pecci; Chiara Gnan; Francesca Punzo; Caterina Marconi; Samuele Gherardi; Giuseppe Loffredo; Daniela De Rocco; Saverio Scianguetta; Serena Barozzi; Pamela Magini; Valeria Bozzi; Luca Dezzani; Mariateresa Di Stazio; Marcella Ferraro; Giovanni Perini; Marco Seri; Carlo L Balduini
Journal: Am J Hum Genet Date: 2011-01-07 Impact factor: 11.025

4. A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases.

Authors: Daniel Greene; Sylvia Richardson; Ernest Turro
Journal: Am J Hum Genet Date: 2017-06-29 Impact factor: 11.025

5. Dysregulated miRNAome and Proteome of PPRV Infected Goat PBMCs Reveal a Coordinated Immune Response.

Authors: Alok Khanduri; Amit Ranjan Sahu; Sajad Ahmad Wani; Raja Ishaq Nabi Khan; Aruna Pandey; Shikha Saxena; Waseem Akram Malla; Piyali Mondal; Kaushal Kishor Rajak; D Muthuchelvan; Bina Mishra; Aditya P Sahoo; Yash Pal Singh; Raj Kumar Singh; Ravi Kumar Gandham; Bishnu Prasad Mishra
Journal: Front Immunol Date: 2018-11-21 Impact factor: 7.561

A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia.

1. Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia.

2. A new family with a germline ANKRD26 mutation and predisposition to myeloid malignancies.

3. Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

4. A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases.

5. Dysregulated miRNAome and Proteome of PPRV Infected Goat PBMCs Reveal a Coordinated Immune Response.

6. A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review.

7. Peroxisomal Atg37 binds Atg30 or palmitoyl-CoA to regulate phagophore formation during pexophagy.

8. [Mutation of ANKRD26 is responsible for thrombocytopenia 2 (THC2) : a family report in China].