Case presentation We describe, for the first time in literature, a RTS Caucasian girl, 14-year-old, with growth hormone (GH) deficiency, pituitary hypoplasia, Arnold Chiari malformation type 1, double syringomyelic cavity and a novel CREBBP mutation (c.3546insCC). Conclusion We hypothesize ...
In addition, both in vitro and in vivo, HDACi had significant effects on cell proliferation of SHH-driven tumor MB cells harboring a-mutation as compared towild-type controls. These data suggest that HDACi may serve as an additional therapeutic option for patients suffering from tumors driven ...
Conclusion The mutation site of c.3609G > C (p.K1203N) in CREBBP gene was found and it enriched the gene mutation spectrum of RSTS.Key words: Rubinstein-Taybi syndrome; CREBBP gene; hereditary鲁宾斯坦 - 泰比综合征(Rubinstein-Taybi syndrome,RSTS)是一种罕见的遗传病,在1963年首次报道,遗传...
- 《Human Mutation》 被引量: 84发表: 2004年 Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome (RSTS), a developmental disorder comprising abnormalities that include mental retardation, an unusual facial appearance, broad t... N Sharma,AM Mali,...
DOI: 10.11817/j.issn.1672-7347.2020.180770CREBBP gene mutation in an infant with Rubinstein-Taybi syndrome SHEN Jie ZHAO Mingyi ZENG Zhihui HE Wei CHEN Chunyuan Authors Info & Affiliations Published: 2020 -04 -08 · DOI: 10.11817/j.issn.1672-7347.2020.180770126 22 0 0 0 0PDF下载摘要...
These analyses not only verified the previously observed mutation frequency in RTK/Ras pathway genes (63%), CREBBP (24%), TRAPP (3%), ZNF516 (3%), FBXL7 (2%), GDPD2 (2%), MAGI1 (2%), NDC80 (2%) and USP9X (2%), but also recovered additional recurrently mutated genes, such as ...
High Frequency of MYD88 L265P Mutation in Primary Ocular Adnexal Marginal Zone Lymphoma and Its Clinicopathologic Correlation: A Study From a Single Institution In this study, the easy-made targeting vectors are aided by the CRISPR/Cas9 technique to insert LoxP elements on the flanking regions of...
. The most dominant mutation in each tumor, which accounted for the impact of co-occurring CNVs, was used to estimate tumor purity/cellularity. All other variants were divided by this number to derive the normalized subclonal representation of the mutation within the tumor. If tumor purity ...
Association of CREBBP mutation with favorable outcome with immune checkpoint inhibitors in bladder cancer 报告形式:Poster 研究者:厦门大学附属第一医院 盛旺 研究例数:628 摘要编号:1774P 背景:CREB结合蛋白(CREBBP)可以对组蛋白和非组蛋白进行修饰,从而调节染色质的开放性和转录。最近有研究发现CREBBP能够乙酰化参...
Mutation type Deletion - Frameshift Zygosity Heterozygous Allelic Frequency 50% Transcript NM_004380.3 Cosmic ID COSM88767 Chr position(GRCh37) chr16:3832851 Buffer Tris-EDTA Product Information Intended Use Research Use Only Unit Size 1ug Concentration Download for COA ...