Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Cardiomyopathy, Hypertrophic/pathology"'
Autor:
Peter Mirtschink, Rahul Sharma, Geetha Rossi, Sanjay Khadayate, Corinne Berthonneche, Eman Hagag, Wilhelm Krek, Corinne Bischof, Jaya Krishnan, Thierry Pedrazzini, Samuel Sossalla, Phillip Grote, Shuyang Traub, Niklaus Fankhauser, Alexandre Sarre, Sebastian Stehr, Stefanie Dimmeler, Minh Duc Pham
Publikováno v:
Circulation, vol. 139, no. 24, pp. 2778-2792
Circulation
Circulation, 139 (24)
Circulation
Circulation, 139 (24)
Supplemental Digital Content is available in the text.
Background: Enhancers are genomic regulatory elements conferring spatiotemporal and signal-dependent control of gene expression. Recent evidence suggests that enhancers can generate noncodin
Background: Enhancers are genomic regulatory elements conferring spatiotemporal and signal-dependent control of gene expression. Recent evidence suggests that enhancers can generate noncodin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6d25d4a747aa8a59989af7a0718498f
https://serval.unil.ch/resource/serval:BIB_BAE7C7F2C66F.P001/REF.pdf
https://serval.unil.ch/resource/serval:BIB_BAE7C7F2C66F.P001/REF.pdf
Publikováno v:
Roos, J C P, Daniels, M J, Morris, E, Hyry, H I & Cox, T M 2018, ' Heterogeneity in a large pedigree with Danon disease : Implications for pathogenesis and management ', Molecular genetics and metabolism, vol. 123, no. 2, pp. 177-183 . https://doi.org/10.1016/j.ymgme.2017.06.008
Background Danon disease is an X-linked disturbance of autophagy manifesting with cognitive impairment and disordered heart and skeletal muscle. After a period of relative stability, patients deteriorate rapidly and may quickly become ineligible for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c37164440d25f0a440a19971a2880df
https://www.research.manchester.ac.uk/portal/en/publications/heterogeneity-in-a-large-pedigree-with-danon-disease(14947773-0661-4255-88a1-e7ba4c31d5c0).html
https://www.research.manchester.ac.uk/portal/en/publications/heterogeneity-in-a-large-pedigree-with-danon-disease(14947773-0661-4255-88a1-e7ba4c31d5c0).html
Autor:
Danielle Majoor-Krakauer, François Pernot, Jean Boutarin, Florence Fellmann, Michaël Stumpf, Gilles Millat, Carolien H Teirlinck, Xavier André-Fouët, Rajae El Malti, Patrice Bouvagnet, Faïza Senni
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, vol. 13, no. 105, pp. 1-9
BMC Medical Genetics, Vol 13, Iss 1, p 105 (2012)
BMC Medical Genetics, 13. BioMed Central Ltd.
BMC Medical Genetics, vol. 13, no. 105, pp. 1-9
BMC Medical Genetics, Vol 13, Iss 1, p 105 (2012)
BMC Medical Genetics, 13. BioMed Central Ltd.
Background Hypertrophic Cardiomyopathy (HCM) is a genetically heterogeneous disease. One specific mutation in the MYBPC3 gene is highly prevalent in center east of France giving an opportunity to define the clinical profile of this specific mutation.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63a73d91bce55f9210e9f6e7115c21ce
https://doi.org/10.1186/1471-2350-13-105
https://doi.org/10.1186/1471-2350-13-105
