Project description:Illumina bodyMap2 transcriptome Transcription profiling by high throughput sequencing of individual and mixture of 16 human tissues RNA. Additional supplementary files available at foot of this record. Additional information available as supplementary files at the foot of this record. ArrayExpress Release Date: 2011-03-17 Person Roles: submitter Person Last Name: Khrebtukova Person First Name: Irina Person Mid Initials: Person Email: ikhrebtukova@illumina.com Person Phone: 1-510-723-9219 Person Address: 25861 Industrial Blvd, Hayward CA 94545, USA Person Affiliation: Illumina
Project description:An overarching aim is to create prerequisites for person-centred information and communication. The specific aim is to evaluate if an intervention with a written information and communication support tool and person-centred dialogues can increase patients’ health-related quality of life and preparedness and well-being pre-surgery and during recovery in connection to colorectal cancer (CRC) surgery. Further, the aim is to explain variations in patients’ recovery trajectories during the six months following CRC surgery in order to identify particularly vulnerable sub-groups of patients.
The hypothesis is that person-centred information and communication supported by an interactive patient information and education material (PEM) for patients undergoing CRC surgery will lead to improved preparedness for surgery and recovery during recovery 6 months following surgery. Secondary outcomes were decreased length of stay at hospital in relation to surgery, changed behaviour pertaining when and how to seek health care for recovery support, and improved emotional, role and social function, general health status and distress.
The study is performed at three surgical departments in Sweden. A combination of quantitative and qualitative methods will be applied. The project started with analysis of existing patient written information and education materials aimed for the patient group at Swedish surgical departments and analyses of conversations between patients and providers in consultations occurring over time before and following surgery. These results provided the basis for the development of the person-centred communication intervention developed in collaboration between people who had undergone CRC surgery, professionals from CRC surgery clinics and researchers with expertise in patient education, person-centred care and CRC surgery.
The design is quasi-experimental and longitudinal. Patients are consecutively sampled. Types of data:
* patient reported answers in validated questionnaires
* information about diagnosis, type of treatments and course of care obtained from patients’ records
* recorded consultation conversations with patients between patients and health care providers
* narrative interviews with patients 6 months following discharge regarding their recovery after surgery
* focus group discussions and individual interviews with professionals regarding how they have perceived using the intervention and how it has functioned.
Project description:A point mutation in the WW domain of PQBP1 that mediates its interaction with SIPP1 causes the Golabi-Ito-Hall (GIH) syndrome, which is associated with severe mental retardation and physical deformations. In this project we compared lymphoblast cell lines from a healthy person and a patient with the GIH syndrome and we found that the interaction between SIPP1 and the PQBP1-Y65C mutant is strongly impaired and is associated with significant differences in the expression of numerous genes. Furthermore, our data show that the Y65C mutation in PQBP1 results in a deficiency of (alternative) splicing and in major effects on several epigenetic markers. Thus, we suggest that GIH syndrome is a splicing disease€™ and that both PQBP1 and SIPP1 play an important role in its etiology. Four replicates were obtained from one lymphoblast cell line derived from a patient with Golabi-Ito-Hall syndrome, labeled as GIH. Four replicates were obtained from one lymphoblast cell line derived from a matched healthy person and is indicated as control.
Project description:A point mutation in the WW domain of PQBP1 that mediates its interaction with SIPP1 causes the Golabi-Ito-Hall (GIH) syndrome, which is associated with severe mental retardation and physical deformations. In this project we compared lymphoblast cell lines from a healthy person and a patient with the GIH syndrome and we found that the interaction between SIPP1 and the PQBP1-Y65C mutant is strongly impaired and is associated with significant differences in the expression of numerous genes. Furthermore, our data show that the Y65C mutation in PQBP1 results in a deficiency of (alternative) splicing and in major effects on several epigenetic markers. Thus, we suggest that GIH syndrome is a splicing disease€™ and that both PQBP1 and SIPP1 play an important role in its etiology.
Project description:Recent advances in high throughput sequencing methodologies allow the opportunity to probe in depth the transcriptomes of organisms including N. caninum. In this project, we are using Illumina sequencing technology to analyze the transcriptome (RNA-Seq) of experimentally accessible stages (e.g. tachyzoites at different times points) of N. caninum NCLiv. The aim is to make transcriptional landscape maps at different time points at different life cycle stages of N. caninum and compare it with equivalent datasets from the closely related parasite Toxoplasma gondii. ArrayExpress Release Date: 2011-02-08 Person Roles: submitter Person Last Name: Service Person First Name: Submission Person Mid Initials: Person Email: datahose@sanger.ac.uk Person Phone: Person Address: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, United Kingdom Person Affiliation: Wellcome Trust Sanger Institute Person Roles: Investigator Person Last Name: Reid Person First Name: Adam Person Mid Initials: Person Email: ar11@sanger.ac.uk Person Phone: 01223 834244 Person Address: Wellcome Trust Genome Campus,Hinxton,Cambridge. CB10 1SA UK Person Affiliation: Wellcome Trust Sanger Institute Person Roles: Project Coordinator Person Last Name: Sanders Person First Name: Mandy Person Mid Initials: J Person Email: mjs@sanger.ac.uk Person Phone: 01223 834244 Person Address: Wellcome Trust Genome Campus,Hinxton,Cambridge. CB10 1SA UK Person Affiliation: Wellcome Trust Sanger Institute
Project description:Recent advances in high throughput sequencing methodologies allow the opportunity to probe in depth the transcriptomes of organisms including N. caninum and Toxoplasma gondii. In this project, we are using Illumina sequencing technology to analyze the transcriptome (RNA-Seq) of experimentally accessible stages (e.g. tachyzoites at different times points) of T. gondii VEG strain. The aim is to make comparative transcriptional landscape maps of Neospora and Toxoplasma at different time points at different life cycle stages and compare levels of expression of orthologous genes in these two organisms. ArrayExpress Release Date: 2011-02-08 Person Roles: submitter Person Last Name: Service Person First Name: Submission Person Mid Initials: Person Email: datahose@sanger.ac.uk Person Phone: Person Address: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, United Kingdom Person Affiliation: Wellcome Trust Sanger Institute Person Roles: Investigator Person Last Name: Reid Person First Name: Adam Person Mid Initials: Person Email: ar11@sanger.ac.uk Person Phone: 01223 834244 Person Address: Wellcome Trust Genome Campus,Hinxton,Cambridge. CB10 1SA UK Person Affiliation: Wellcome Trust Sanger Institute Person Roles: Project Coordinator Person Last Name: Sanders Person First Name: Mandy Person Mid Initials: J Person Email: mjs@sanger.ac.uk Person Phone: 01223 834244 Person Address: Wellcome Trust Genome Campus,Hinxton,Cambridge. CB10 1SA UK Person Affiliation: Wellcome Trust Sanger Institute