525 results for "retinitis+pigmentosa+2017+surgery+blog+"my+twin+died+at+birth""

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• Region-specific Transcriptome Analysis of the Human Retina and Retinal Pigment Epithelium (RPE)/Choroid

  Proper spatial differentiation of retinal cell types is necessary for normal human vision. Many retinal diseases, such as Best disease and male germ cell associated kinase (MAK)-associated retinitis pigmentosa, preferentially affect distinct topographic regions of the retina. While much is known about the distribution of cell types in the retina, the distribution of molecular components across the posterior pole of the eye has not been well-studied. To investigate regional difference in molecular composition of ocular tissues, we assessed differential gene expression across the temporal, macular, and nasal retina and retinal pigment epithelium (RPE)/choroid of human eyes using RNA-Seq. RNA from temporal, macular, and nasal retina and RPE/choroid from four human donor eyes was extracted, poly-A selected, fragmented, and sequenced as 100 bp read pairs. Digital read files were mapped to the human genome and analyzed for differential expression using the Tuxedo software suite. Retina and RPE/choroid samples were clearly distinguishable at the transcriptome level. Numerous transcription factors were differentially expressed between regions of the retina and RPE/choroid. Photoreceptor-specific genes were enriched in the peripheral samples, while ganglion cell and amacrine cell genes were enriched in the macula. Within the RPE/choroid, RPE-specific genes were upregulated at the periphery while endothelium associated genes were upregulated in the macula. Consistent with previous studies, BEST1 expression was lower in macular than extramacular regions. The MAK gene was expressed at lower levels in macula than in extramacular regions, but did not exhibit a significant difference between nasal and temporal retina. The regional molecular distinction is greatest between macula and periphery and decreases between different peripheral regions within a tissue. Datasets such as these can be used to prioritize candidate genes for possible involvement in retinal diseases with regional phenotypes. Reprinted from Whitmore, S.S., Wagner, A.H., DeLuca, A.P., Drack, A.V., Stone, E.M., Tucker, B.A., Zeng, S., Braun, T.A., Mullins, R.F., Scheetz, T.E., 2014. Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq. Experimental Eye Research. Used under Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported license. Additional RNA sequencing was performed on temporal, macular, nasal, inferior, and superior retina from a fifth subject and is included in this dataset. See original publication for details.

  Study phs001151

• SCANDARE ovarian WES data

  SCANDARE (NCT03017573) is a multicentric biobanking study, enrolling adult patients with newly diagnosed head and neck squamous cell carcinoma (HNSCC), triple negative breast cancer (TNBC), ovarian and cervical cancer. Tumor tissue and blood samples are collected at several time points during patient's journey, including at diagnosis, post-neoadjuvant chemotherapy in case of neoadjuvant treatment, at surgery, at recurrence and at disease progression following treatment initiated at recurrence. Since its launch in 2017 at Institut Curie, SCANDARE has enabled the longitudinal collection and preservation of samples for in-depth analyses. Here, we describe molecular alterations in 91 frozen samples (n = 53 at baseline, n = 31 Post-NAC, n= 7 Recurrence, and n = 62 germline DNA) from 64 ovarian cancer patients using WES technology, with FASTQ files deposited in the dataset.

  Dataset EGAD50000001658

• DEEP IHEC release 2017

  Raw data files for DEEP's IHEC/EpiRR submission of 2017. metadata available at: http://deep.dkfz.de/#/experiments

  Study EGAS00001002655

• REL-2017-07-2022

  HipSci - Kabuki Syndrome - Expression Array - July 2017

  Dataset EGAD00010001372

• REL-2017-07-2023

  HipSci - Usher Syndrome - Expression Array - July 2017

  Dataset EGAD00010001374

• REL-2017-07-2024

  HipSci - Alport Syndrome - Expression Array - July 2017

  Dataset EGAD00010001376

• REL-2017-07-2026

  HipSci - Hypertrophic Cardiomyopathy - Expression Array - July 2017

  Dataset EGAD00010001380

• REL-2017-07_867

  HipSci - Healthy Normals - Expression Array - July 2017

  Dataset EGAD00010001330

• REL-2017-07-1277

  HipSci - Monogenic Diabetes - Expression Array - July 2017

  Dataset EGAD00010001342

• REL-2017-07-2025

  HipSci - Congenital Hyperinsulinia - Expression Array - July 2017

  Dataset EGAD00010001378

• REL-2017-07-2029

  HipSci - Macular Dystrophy - Expression Array - July 2017

  Dataset EGAD00010001386

• REL-2017-07-2031

  HipSci - Battens Disease - Expression Array - July 2017

  Dataset EGAD00010001390

• REL-2017-07-2020

  HipSci - Hereditary Cerebellar Ataxias - Expression Array - July 2017

  Dataset EGAD00010001368

• REL-2017-07-2027

  HipSci - Primary Immune Deficiency - Expression Array - July 2017

  Dataset EGAD00010001382

• REL-2017-07-2021

  HipSci - Hereditary Spastic Paraplegia - Expression Array - July 2017

  Dataset EGAD00010001370

• REL-2017-07-1276

  HipSci - Bardet-Biedl Syndrome - Expression Array - July 2017

  Dataset EGAD00010001340

• REL-2017-07-2028

  HipSci - Bleeding and Platelet Disorders - Expression Array - July 2017

  Dataset EGAD00010001384

• REL-2017-07-2016

  HipSci - Battens Disease - Genotyping Array - July 2017

  Dataset EGAD00010001366

• REL-2017-07-2007

  HipSci - Kabuki Syndrome - Genotyping Array - July 2017

  Dataset EGAD00010001348

• REL-2017-07-2008

  HipSci - Usher Syndrome - Genotyping Array - July 2017

  Dataset EGAD00010001350

• REL-2017-07-2009

  HipSci - Alport Syndrome - Genotyping Array - July 2017

  Dataset EGAD00010001352

• REL-2017-07-2010

  HipSci - Congenital Hyperinsulinia - Genotyping Array - July 2017

  Dataset EGAD00010001354

• REL-2017-07-07

  HipSci - Hypertrophic Cardiomyopathy - Genotyping Array - July 2017

  Dataset EGAD00010001356

• REL-2017-07-2014

  HipSci - Macular Dystrophy - Genotyping Array - July 2017

  Dataset EGAD00010001362

• PAGE2 Dataset Nov 2017 (Ref: PAGE2 GIM 2018)

  PAGE2 Dataset Nov 2017 (Ref: PAGE2 GIM 2018)

  Dataset EGAD00001004843