Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
About this item
Full title
Author / Creator
Zhang, Michael Y , Churpek, Jane E , Keel, Siobán B , Walsh, Tom , Lee, Ming K , Loeb, Keith R , Gulsuner, Suleyman , Pritchard, Colin C , Sanchez-Bonilla, Marilyn , Delrow, Jeffrey J , Basom, Ryan S , Forouhar, Melissa , Gyurkocza, Boglarka , Schwartz, Bradford S , Neistadt, Barbara , Marquez, Rafael , Mariani, Christopher J , Coats, Scott A , Hofmann, Inga , Lindsley, R Coleman , Williams, David A , Abkowitz, Janis L , Horwitz, Marshall S , King, Mary-Claire , Godley, Lucy A and Shimamura, Akiko
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Akiko Shimamura and colleagues report the identification of dominant-negative germline variants in
ETV6
that cause thrombocytopenia and hematologic malignancies in the affected members of three families. All three mutations alter conserved amino acids in the transcriptional repressor encoded by
ETV6
and affect its DNA binding.
We rep...
Alternative Titles
Full title
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
Authors, Artists and Contributors
Author / Creator
Churpek, Jane E
Keel, Siobán B
Walsh, Tom
Lee, Ming K
Loeb, Keith R
Gulsuner, Suleyman
Pritchard, Colin C
Sanchez-Bonilla, Marilyn
Delrow, Jeffrey J
Basom, Ryan S
Forouhar, Melissa
Gyurkocza, Boglarka
Schwartz, Bradford S
Neistadt, Barbara
Marquez, Rafael
Mariani, Christopher J
Coats, Scott A
Hofmann, Inga
Lindsley, R Coleman
Williams, David A
Abkowitz, Janis L
Horwitz, Marshall S
King, Mary-Claire
Godley, Lucy A
Shimamura, Akiko
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4540357
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4540357
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.3177