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Sökning: WFRF:(Fonatsch Christa) > The idic(X)(q13) in...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003572naa a2200385 4500
001oai:lup.lub.lu.se:812d6933-488b-464d-bd96-a2a7ad49b081
003SwePub
008160404s2010 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/15406792 URI
0247 a https://doi.org/10.1093/hmg/ddq0242 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Paulsson, Kajsau Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)kgen-kpa
2451 0a The idic(X)(q13) in myeloid malignancies: breakpoint clustering in segmental duplications and association with TET2 mutations.
264 c 2010-01-21
264 1b Oxford University Press (OUP),c 2010
520 a Myelodysplastic syndromes and acute myeloid leukemia with an isodicentric X chromosome [idic(X)(q13)] occur in elderly women and frequently display ringed sideroblasts. Because of the rarity of idic(X)(q13), little is known about its formation, whether a fusion gene is generated, and patterns of additional aberrations. We here present a SNP array study of 14 idic(X)-positive myeloid malignancies, collected through an international collaborative effort. The breakpoints clustered in two regions of segmental duplications and were not in a gene, making dosage effects from the concurrent gain of Xpter-q13 and loss of Xq13-qter, rather than a fusion gene, the most likely pathogenetic outcome. Methylation analysis revealed involvement of the inactive X chromosomes in five cases and of the active in two. The ABCB7 gene, mutated in X-linked sideroblastic anemia and spinocerebellar ataxia, is in the deleted region, suggesting that loss of this gene underlies the frequent presence of ringed sideroblasts. Additional genetic abnormalities were present in 12/14 (86%), including partial uniparental disomies for 9p (1 case) and 4q (2 cases) associated with homozygous mutations of JAK2 and TET2, respectively. In total, TET2 mutations were seen in 4/11 (36%) analyzed cases, thus constituting a common secondary event in idic(X)-positive malignancies.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
7001 a Haferlach, Claudia4 aut
7001 a Fonatsch, Christa4 aut
7001 a Hagemeijer, Anne4 aut
7001 a Klarskov Andersen, Mette4 aut
7001 a Slovak, Marilyn L4 aut
7001 a Johansson, Bertilu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)kgen-bjo
7102 a Avdelningen för klinisk genetikb Institutionen för laboratoriemedicin4 org
7730 t Human Molecular Geneticsd : Oxford University Press (OUP)g 19, s. 1507-1514q 19<1507-1514x 0964-6906x 1460-2083
8564 u http://www.ncbi.nlm.nih.gov/pubmed/20093295?dopt=Abstracty FULLTEXT
8564 u http://dx.doi.org/10.1093/hmg/ddq024y FULLTEXT
8564 u https://academic.oup.com/hmg/article-pdf/19/8/1507/1529280/ddq024.pdf
8564 8u https://lup.lub.lu.se/record/1540679
8564 8u https://doi.org/10.1093/hmg/ddq024

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