نتایج جستجو برای: taybi syndrome
تعداد نتایج: 621935 فیلتر نتایج به سال:
transcriptional events, including not only its named fact, a survey of OMIM reveals that of the human genetic function as a coactivator for the phosphorylated form diseases for which genes are identified, only a small of CREB (cAMP response element–binding protein), but minority are caused by mutations in genes encoding also the regulation of histone acetylation. Yet while inhi-transcription fa...
Keloids are non-malignant mesenchymal tumours which develop in genetically susceptible individuals as a result of various injuries, and they are the result of disorders in the wound healing process [1–5]. The clinical image presents vivid red or even brown tumour-like le-sions. Their density is much higher than that of the surrounding skin since they contain mostly collagen fibres. The lesions ...
PURPOSE Electronic health record systems provide great opportunity to study most diseases. Objective of this study was to determine whether electronic medical records (EMR) in ophthalmology contribute to management of rare eye diseases, isolated or in syndromes. Study was designed to identify and collect patients' data with ophthalmology-specific EMR. METHODS Ophthalmology-specific EMR softwa...
CREB-binding protein (CBP) is a transcriptional co-activator which is required by many transcription factors. Rubinstein-Taybi syndrome (RTS), which is an autosomal dominant syndrome characterized by abnormal pattern formation, is associated with mutations in the human CBP gene. Various abnormalities occur at high frequency in the skeletal system of heterozygous Cbp-deficient mice, but some fea...
Rubinstein-Taybi syndrome (RTS) is a malformation syndrome characterised by facial abnormalities, broad thumbs, broad big toes, and mental retardation. In a subset of RTS patients, microdeletions, translocations, and inversions involving chromosome band 16p13.3 can be detected. We have previously shown that disruption of the human CREB binding protein (CREBBP or CBP) gene, either by these gross...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید