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Annemarie Poustka
Researcher at German Cancer Research Center
Publications - 27
Citations - 4344
Annemarie Poustka is an academic researcher from German Cancer Research Center. The author has contributed to research in topics: Gene & Dyskeratosis congenita. The author has an hindex of 22, co-authored 27 publications receiving 4150 citations. Previous affiliations of Annemarie Poustka include European Bioinformatics Institute.
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Journal ArticleDOI
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
Jean Mosser,A.-M. Douar,Claude-Olivier Sarde,Petra Kioschis,Robert Feil,Hugo W. Moser,Annemarie Poustka,Jean-Louis Mandel,Patrick Aubourg +8 more
TL;DR: In this paper, the authors used positional cloning to identify a gene partially deleted in 6 of 85 independent patients with Adrenoleukodystrophy (ALD) and two identical deletions were detected in two brothers presenting with different clinical ALD phenotypes.
Journal ArticleDOI
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
Nina S. Heiss,Stuart W. Knight,Tom Vulliamy,Sabine M. Klauck,Stefan Wiemann,Philip J. Mason,Annemarie Poustka,Inderjeet Dokal +7 more
TL;DR: Five different missense mutations in five unrelated patients were subsequently identified in XAP101, indicating that it is the gene responsible for X-linked DKC (DKC1), which is the orthologue of rat NAP57 and Saccharomyces cerevisiae CBF5.
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A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
Jocelyn Laporte,Ling Jia Hu,Christine Kretz,Jean-Louis Mandel,Petra Kioschis,Johannes F. Coy,Sabine M. Klauck,Annemarie Poustka,Niklas Dahl +8 more
TL;DR: The presence of frameshift or missense mutations in seven patients proved that one of these genes is indeed implicated in MTM1, a new family of putative tyrosine phosphatases in man.
Journal ArticleDOI
Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing
TL;DR: A novel cloning technology is used to rapidly generate N‐ and C‐terminal green fluorescent protein fusions of cDNAs to examine the intracellular localizations of >100 expressed fusion proteins in living cells.
Journal ArticleDOI
X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene
Stuart W. Knight,Nina S. Heiss,Tom Vulliamy,S. Greschner,G. Stavrides,G.S. Pai,G. Lestringant,N. Varma,Philip J. Mason,Inderjeet Dokal,Annemarie Poustka +10 more
TL;DR: It is apparent that X-linked dyskeratosis congenita is predominantly caused by missense mutations; the precise effect on the function of dyskerin remains to be determined.