A
Anna Marrone
Researcher at Imperial College London
Publications - 22
Citations - 3882
Anna Marrone is an academic researcher from Imperial College London. The author has contributed to research in topics: Telomerase & Dyskeratosis congenita. The author has an hindex of 17, co-authored 22 publications receiving 3722 citations. Previous affiliations of Anna Marrone include King's College London & Hammersmith Hospital.
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Journal ArticleDOI
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
Tom Vulliamy,Anna Marrone,Frederick D. Goldman,Andrew Dearlove,Monica Bessler,Philip J. Mason,Inderjeet Dokal +6 more
TL;DR: The gene responsible for dyskeratosis congenita is mapped in a large pedigree with autosomal dominant inheritance and affected members of this family have an 821-base-pair deletion on chromosome 3q that removes the 3′ 74 bases of hTR.
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Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
Tom Vulliamy,Anna Marrone,Richard Szydlo,Amanda J. Walne,Philip J. Mason,Philip J. Mason,Inderjeet Dokal +6 more
TL;DR: Disease anticipation is observed in families with the bone marrow failure syndrome autosomal dominant dyskeratosis congenita and this is associated with progressive telomere shortening.
Journal ArticleDOI
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.
Tom Vulliamy,Tom Vulliamy,Tom Vulliamy,Anna Marrone,Anna Marrone,Anna Marrone,Stuart W. Knight,Stuart W. Knight,Stuart W. Knight,Amanda J. Walne,Amanda J. Walne,Amanda J. Walne,Philip J. Mason,Philip J. Mason,Philip J. Mason,Inderjeet Dokal,Inderjeet Dokal,Inderjeet Dokal +17 more
TL;DR: In the new families described with TERC mutations, there is further evidence of disease anticipation associated with shorter telomeres in the younger generations, and the considerable genetic and phenotypic diversity of DC is highlighted.
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Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
Tom Vulliamy,Richard Beswick,Michael Kirwan,Anna Marrone,Martin Digweed,Amanda J. Walne,Inderjeet Dokal +6 more
TL;DR: Analysis of two other proteins, NHP2 and GAR1, that together with dyskerin and NOP10 are key components of telomerase and small nucleolar ribonucleoprotein (snoRNP) complexes are described, suggesting that, in human cells, G AR1 has a different impact on the accumulation of TERC compared with Dyskerin, NOP 10, and NHP 2.
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Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.
Amanda J. Walne,Tom Vulliamy,Anna Marrone,Richard Beswick,Michael Kirwan,Yuka Masunari,Fat-hia Al-Qurashi,Mahmoud Aljurf,Inderjeet Dokal +8 more
TL;DR: Findings identify the genetic basis of one subtype of AR-DC being due to the first documented mutations in NOP10, a component of H/ACA snoRNP complexes including telomerase is mutated in a large consanguineous family with classical DC, which strengthens the model that defective telomere maintenance is the primary pathology in DC.