Abstract:
:Dyskeratosis congenita (DC) is an inherited disorder characterized by skin pigmentation, nail dystrophy and mucosal leucoplakia. In 1995 a Dyskeratosis Congenita Registry was established at the Hammersmith Hospital. In the 46 families recruited, 76/83 patients were male, suggesting that the major form of DC is X-linked. As well as a variety of noncutaneous abnormalities, the majority (93%) of patients had bone marrow (BM) failure and this was the principal cause (71%) of early mortality. In addition to BM hypoplasia, some patients also developed myelodysplasia and acute myelod leukaemia. Pulmonary abnormalities were present in 19% of patients. In affected females the phenotype was less severe. Some female carriers of X-linked DC had clinical features. Carriers of X-linked DC showed skewed X-chromosome inactivation patterns (XCIPs), suggesting that cells expressing the normal DC allele have a growth/survival advantage over cells that express the mutant allele. Linkage analysis in multiplex families confirmed that the DKC1 gene, responsible for the X-linked form of DC, is located within Xq28 and facilitated its positional cloning. The high incidence of BM failure in association with a wide range of somatic abnormalities together with the ubiquitous expression of DKC1 suggest that, as well as having a critical role in normal haemopoiesis, this gene has a key role in normal cell biology.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Knight S,Vulliamy T,Copplestone A,Gluckman E,Mason P,Dokal Idoi
10.1046/j.1365-2141.1998.01103.xsubject
Has Abstractpub_date
1998-12-01 00:00:00pages
990-6issue
4eissn
0007-1048issn
1365-2141journal_volume
103pub_type
杂志文章abstract::Karyotypic studies of bone marrow were conducted in 79 previously untreated patients with multiple myeloma who received a standard programme of chemotherapy. An abnormal karyotype was observed in 46% of patients, virtually all showing multiple abnormalities consistent with a long period of preclinical clonal evolution...
journal_title:British journal of haematology
pub_type: 杂志文章
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abstract::Ernest Beutler was one of the preeminent haematologists of the last half of the 20th and the early 21st century. In a career that spanned six decades, his research interests included such diverse areas as red cell metabolism, blood preservation, glycolipid storage diseases, leukaemias and iron metabolism. Indeed, he w...
journal_title:British journal of haematology
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journal_title:British journal of haematology
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doi:10.1111/j.1365-2141.1983.tb02130.x
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journal_title:British journal of haematology
pub_type: 杂志文章,多中心研究,随机对照试验
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abstract::Alpha haemoglobin stabilising protein (AHSP) binds free alpha-globin chains and plays an important role in the protection of red cells, particularly during beta-thalassaemia. Murine ASHP was discovered as a GATA-1 target gene and human AHSP is directly regulated by GATA-1. More recently, AHSP was rediscovered as a hig...
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pub_type: 杂志文章
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abstract::Mutations of the DNA mismatch repair (MMR) gene hMLH1 have recently been linked to the development of some hereditary and sporadic cancers which frequently display widespread microsatellite instability (MSI). Conflicting results regarding the extent of MSI in myeloid leukaemias prompted us to perform mutational analys...
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pub_type: 杂志文章
doi:10.1111/j.1365-2141.1982.tb03913.x
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pub_type: 杂志文章
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1993.tb08667.x
更新日期:1993-09-01 00:00:00
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pub_type: 杂志文章
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journal_title:British journal of haematology
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abstract::Recently developed ferrokinetic methods offer a tool to measure effective and ineffective erythropoiesis and mean red-cell lifespan (Ricketts et al, 1975). We have used this tool to investigate erythropoiesis in normal subjects and in patients with the anaemia of active rheumatoid arthritis. In normal subjects the res...
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pub_type: 杂志文章
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journal_title:British journal of haematology
pub_type: 杂志文章
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journal_title:British journal of haematology
pub_type: 杂志文章
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更新日期:1975-01-01 00:00:00
abstract::Using a reverse transcription-polymerase chain reaction (RT-PCR), we identified a patient with typical clinical features of chronic myelogenous leukaemia (CML) in the chronic phase who showed no amplification of the CML-type BCR/ABL transcript. RT-PCR with primers detecting the acute lymphoid leukaemia (ALL)-type tran...
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