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https://www.mrc-mbu.cam.ac.uk/files/impi-2021-q4pre-20211001-dist_0.xlsx4 Oct 2021: ENSDARG00000076487 ENSMUSG00000000673 ENSRNOG00000031263 YJR025C. 604521. HAAO. Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3), Autosomal recessive. ... Mitochondria. MitoCarta3.0. HPA-Supported. GO. MSeqDR. ENSDARG00000020679 -
Table Legend
https://www.mrc-mbu.cam.ac.uk/files/impi-2020-q3pre.xlsx1 Oct 2021: Table Legend. Supplementary Data: IMPI. Data sets for protein-encoding human genes in Ensembl. Annotation includes: Evidence of subcellular localisation; Manual curation of literature; IMPI localisation score for likelihood of a mitochondrial -
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https://www.mrc-mbu.cam.ac.uk/files/buddy-2021q4-20211001-dist_0.xlsx4 Oct 2021: in Mitochondria [PMID:28712724]; Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome [PMID:22284826];. ... Secondary. Mitochondrial membranes. Dynamics; homeostatis; QC. Green. Perrault syndrome 3, 614129 (3), Autosomal recessive -
PUBLICATIONS (Journals and contribution to books)
https://www.mrc-bsu.cam.ac.uk/wp-content/uploads/2014/03/SR-full-list-of-publications_2022.docx3 Aug 2022: de Hoogh, K. Gorog, P. Elliott. (2007). Down syndrome in births near landfill sites. ... Meningococcal disease and influenza-like syndrome : a new approach to an old question. -
TH ER AP EU TIC S S YM PO ...
https://www.milner.cam.ac.uk/wp-content/uploads/2019/07/milner_symposium_final.pdf23 Jul 2019: of diseases and syndromes such as infections, autoimmunity, irritable bowel syndromes and cancer. ... We have established human models of the aortic disease in MFS using patient-derived human induced pluripotent stem cells (hiPSCs). -
ContentsMessage from the Head of School 2 Aims of ...
https://www.medschl.cam.ac.uk/wp-content/uploads/2022/01/CSM-Research_Overview_Jan_2022_Updated.pdf31 Jan 2022: disease; chaperone control of the unfolded protein response; the structural basis of Hunter syndrome; and the role of the myosin VI motor in actin dynamics during mitophagy. ... We study early stages of squamous epithelial carcinogenesis, focusing on the -
B cells that exacerbate Streptococcal pneumoniae infection
https://www.medschl.cam.ac.uk/study-of-rare-monogenic-immunodeficiency-reveals-population-of-b-cells-that-exacerbate-streptococcal-pneumoniae-infection/23 Feb 2024: Site Search. Study of rare monogenic immunodeficiency reveals population of B cells that exacerbate Streptococcal pneumoniae infection. ... School of Clinical Medicine. Featured Articles. Study of rare monogenic immunodeficiency reveals population of B -
Research News Archives - Page 8 of 29 - School of Clinical Medicine
https://www.medschl.cam.ac.uk/category/schoolnews/research-news/page/8/23 Feb 2024: model of the human immunodeficiency, Activated PI3Kinase δ syndrome (APDS). -
School News Archives - Page 8 of 29 - School of Clinical Medicine
https://www.medschl.cam.ac.uk/category/schoolnews/page/8/23 Feb 2024: model of the human immunodeficiency, Activated PI3Kinase δ syndrome (APDS). -
Featured Articles Archives - Page 9 of 32 - School of Clinical…
https://www.medschl.cam.ac.uk/category/feature/page/9/23 Feb 2024: model of the human immunodeficiency, Activated PI3Kinase δ syndrome (APDS).
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