排序方式: 共有319条查询结果,搜索用时 31 毫秒
251.
Haiman CA Chen GK Vachon CM Canzian F Dunning A Millikan RC Wang X Ademuyiwa F Ahmed S Ambrosone CB Baglietto L Balleine R Bandera EV Beckmann MW Berg CD Bernstein L Blomqvist C Blot WJ Brauch H Buring JE Carey LA Carpenter JE Chang-Claude J Chanock SJ Chasman DI Clarke CL Cox A Cross SS Deming SL Diasio RB Dimopoulos AM Driver WR Dünnebier T Durcan L Eccles D Edlund CK Ekici AB Fasching PA Feigelson HS Flesch-Janys D Fostira F Försti A Fountzilas G 《Nature genetics》2011,43(12):1210-1214
Estrogen receptor (ER)-negative breast cancer shows a higher incidence in women of African ancestry compared to women of European ancestry. In search of common risk alleles for ER-negative breast cancer, we combined genome-wide association study (GWAS) data from women of African ancestry (1,004 ER-negative cases and 2,745 controls) and European ancestry (1,718 ER-negative cases and 3,670 controls), with replication testing conducted in an additional 2,292 ER-negative cases and 16,901 controls of European ancestry. We identified a common risk variant for ER-negative breast cancer at the TERT-CLPTM1L locus on chromosome 5p15 (rs10069690: per-allele odds ratio (OR) = 1.18 per allele, P = 1.0 × 10(-10)). The variant was also significantly associated with triple-negative (ER-negative, progesterone receptor (PR)-negative and human epidermal growth factor-2 (HER2)-negative) breast cancer (OR = 1.25, P = 1.1 × 10(-9)), particularly in younger women (<50 years of age) (OR = 1.48, P = 1.9 × 10(-9)). Our results identify a genetic locus associated with estrogen receptor negative breast cancer subtypes in multiple populations. 相似文献
252.
Briggs TA Rice GI Daly S Urquhart J Gornall H Bader-Meunier B Baskar K Baskar S Baudouin V Beresford MW Black GC Dearman RJ de Zegher F Foster ES Francès C Hayman AR Hilton E Job-Deslandre C Kulkarni ML Le Merrer M Linglart A Lovell SC Maurer K Musset L Navarro V Picard C Puel A Rieux-Laucat F Roifman CM Scholl-Bürgi S Smith N Szynkiewicz M Wiedeman A Wouters C Zeef LA Casanova JL Elkon KB Janckila A Lebon P Crow YJ 《Nature genetics》2011,43(2):127-131
We studied ten individuals from eight families showing features consistent with the immuno-osseous dysplasia spondyloenchondrodysplasia. Of particular note was the diverse spectrum of autoimmune phenotypes observed in these individuals (cases), including systemic lupus erythematosus, Sj?gren's syndrome, hemolytic anemia, thrombocytopenia, hypothyroidism, inflammatory myositis, Raynaud's disease and vitiligo. Haplotype data indicated the disease gene to be on chromosome 19p13, and linkage analysis yielded a combined multipoint log(10) odds (LOD) score of 3.6. Sequencing of ACP5, encoding tartrate-resistant acid phosphatase, identified biallelic mutations in each of the cases studied, and in vivo testing confirmed a loss of expressed protein. All eight cases assayed showed elevated serum interferon alpha activity, and gene expression profiling in whole blood defined a type I interferon signature. Our findings reveal a previously unrecognized link between tartrate-resistant acid phosphatase activity and interferon metabolism and highlight the importance of type I interferon in the genesis of autoimmunity. 相似文献
253.
The eye and its associated tissues including the lacrimal system and lids have evolved several defence mechanisms to prevent
microbial invasion. Included among this armory are several host-defence peptides. These multifunctional molecules are being
studied not only for their endogenous antimicrobial properties but also for their potential therapeutic effects. Here the
current knowledge of host-defence peptide expression in the eye will be summarised. The role of these peptides in eye disease
will be discussed with the primary focus being on infectious keratitis, inflammatory conditions including dry eye and wound
healing. Finally the potential of using host-defence peptides and their mimetics/derivatives for the treatment and prevention
of eye diseases is addressed. 相似文献
254.
This comparative study explores the use of the Cohort Component Method (CCM) to produce national level population estimates. This method is used annually to calculate mid-year population estimates for England and Wales by the Office for National Statistics (ONS). Initially the article considers recent population change in England and Wales, with particular emphasis on the growing importance and challenges faced by migration estimation. Comparisons are then made between how population estimates are produced in England and Wales and other countries, with a particular focus on differences in the way the CCM is applied. Recent changes in methods used to estimate population are then reviewed along with a discussion of alternative approaches such as those described in academic literature. 相似文献
255.
256.
257.
258.
259.
260.