Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Dominic JA"'
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103430- (2024)
Congenital myotonic dystrophy (CDM) is a genetic disease caused by an abnormally long CTG repeat expansion in the DMPK gene, which generally increases in size following intergenerational transmission. CDM is the rarest and most severe form of myotoni
Externí odkaz:
https://doaj.org/article/9574c314e79f4d7d96d89a99d3cbafcb
Publikováno v:
Stem Cell Research, Vol 76, Iss , Pp 103375- (2024)
Myotonic dystrophy type 1 (DM1) is the most prevalent adult-onset muscular dystrophy affecting 1 in 8,000 individuals. It is characterized by multisystemic symptoms, primarily myopathy. The root cause of DM1 is a heterozygous CTG triplet expansion be
Externí odkaz:
https://doaj.org/article/cfe1e1ddc21547779019878e17fea81f
Autor:
Mohammed Djemai, Dominic Jauvin, Hugo Poulin, Charles-Albert Chapotte-Baldacci, Mohamed Chahine
Publikováno v:
Stem Cell Research, Vol 75, Iss , Pp 103308- (2024)
Dilated cardiomyopathy (DCM) is a prevalent cause of heart failure. We generated induced pluripotent stem cell (iPSC) lines from a DCM patient carrying a mutation in the SCN5A gene, with his healthy father serving as a control. Notably, we employed C
Externí odkaz:
https://doaj.org/article/d154aec2aaac4c9895800de07eb5f23e
Publikováno v:
Stem Cell Research, Vol 72, Iss , Pp 103234- (2023)
Congenital myotonic dystrophy (CDM) is an autosomal dominant multisystemic disorder attributed to a large expansion of CTG trinucleotide repeats within the myotonic dystrophy protein kinase (DMPK) gene. In this study, we successfully reprogrammed der
Externí odkaz:
https://doaj.org/article/fee75a1a77474c828411d3e7eafd5548
Publikováno v:
Cleaner Logistics and Supply Chain, Vol 8, Iss , Pp 100118- (2023)
Developing nations face institutional impediments in the implementation of sustainable procurement strategies. However, in the right institutional environment, these countries can overcome any hindrance and successfully implement sustainable procurem
Externí odkaz:
https://doaj.org/article/27f6371baa9a4641803a226c1c383208
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103168- (2023)
The generation of control human iPSC lines is important in fundamental research to understand the physiological and physiopathological mechanisms underlying human diseases. We generated and characterized two control hiPSC lines from lymphoblastoid ce
Externí odkaz:
https://doaj.org/article/453f0904a4b941d187e8b833dc6ebcc6
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103148- (2023)
Myotonic dystrophy type 1 (DM1) is a genetic neuromuscular disorder that affects many organs, including the heart. DM1 is caused by a heterozygous CTG triplet expansion exceeding the normal size threshold in the non-coding region of the DM1 protein k
Externí odkaz:
https://doaj.org/article/e153ce81dc42461dbccd10e10038e50d
Publikováno v:
Stem Cell Research, Vol 67, Iss , Pp 103037- (2023)
Myotonic dystrophy Type 1 (DM1) is a severe inherited neuromuscular disease and is the most prevalent form of muscular dystrophy in adults. DM1 involves not only the striated muscles including skeletal, and cardiac but also other organs such as the e
Externí odkaz:
https://doaj.org/article/b2e214a225f14d0ab8dc649c1558c767
Autor:
Giordano Gentile, Rozemarijn M. Mattiesing, Iman Brouwer, Ronald A. van Schijndel, Bernard M.J. Uitdehaag, Jos W.R. Twisk, Ludwig Kappos, Mark S. Freedman, Giancarlo Comi, Dominic Jack, Frederik Barkhof, Nicola De Stefano, Hugo Vrenken, Marco Battaglini
Publikováno v:
NeuroImage: Clinical, Vol 38, Iss , Pp 103397- (2023)
Background: White matter (WM) lesions and brain atrophy are present early in multiple sclerosis (MS). However, their spatio-temporal relationship remains unclear. Methods: Yearly magnetic resonance images were analysed in 387 patients with a first cl
Externí odkaz:
https://doaj.org/article/9cb52998235e487e8777119cae3c1941
Autor:
Dominic James Gavin, Jonathan Kam, Matthew Krelle, Mark Louie-Johnsun, Tom Sutherland, Samantha Koschel, Mark Jenkins, Yuigi Yuminaga, Raymond Kim, Kushlan Aluwihare, Sarah Skinner, Janelle Brennan, Lih-Ming Wong
Publikováno v:
European Urology Open Science, Vol 20, Iss , Pp 28-36 (2020)
Background: Multiparametric magnetic resonance imaging (mpMRI) has shown promise to improve detection of prostate cancer over conventional methods. However, most studies do not describe whether the location of mpMRI lesions match that of cancer found
Externí odkaz:
https://doaj.org/article/b1f6d056357f451ca36ea35b9d334e3a