Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Mira Holliday"'
Autor:
Seakcheng Lim, Melissa M. Mangala, Mira Holliday, Henrietta Cserne Szappanos, Samantha Barratt-Ross, Serena Li, Jordan Thorpe, Whitney Liang, Ginell N. Ranpura, Jamie I. Vandenberg, Christopher Semsarian, Adam P. Hill, Livia C. Hool
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 8 (2024)
Externí odkaz:
https://doaj.org/article/0597755221d841338cbe98d8ace2eb4a
Autor:
Emma S. Singer, Joshua Crowe, Mira Holliday, Julia C. Isbister, Sean Lal, Natalie Nowak, Laura Yeates, Charlotte Burns, Sulekha Rajagopalan, Ivan Macciocca, Ingrid King, Julie Wacker, Jodie Ingles, Robert G. Weintraub, Christopher Semsarian, Richard D. Bagnall
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-7 (2023)
Abstract There is an incomplete understanding of the burden of splice-disrupting variants in definitively associated inherited heart disease genes and whether these genes can amplify from blood RNA to support functional confirmation of splicing outco
Externí odkaz:
https://doaj.org/article/8fed1ba26d23493d97359693ba5f0785
Autor:
Henrietta Cserne Szappanos, Helena M. Viola, Danica W. Ito, Seakcheng Lim, Melissa Mangala, Mira Holliday, Samantha Barratt Ross, Christopher Semsarian, Adam Hill, Rose E. Dixon, Livia C. Hool
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-16 (2023)
Abstract Familial hypertrophic cardiomyopathy (FHC) patients are advised to avoid strenuous exercise due to increased risk of arrhythmias. Mice expressing the human FHC-causing mutation R403Q in the myosin heavy chain gene (MYH6) recapitulate the hum
Externí odkaz:
https://doaj.org/article/e1010dcf8ddf4f0397cc92001ff5aa96
Autor:
Mira Holliday, Kumar Uddipto, Gerardo Castillo, Luz Estela Vera, Julie A. Quinlivan, George L. Mendz
Publikováno v:
Microorganisms, Vol 11, Iss 8, p 1877 (2023)
The aim of this work was to achieve a better understanding of the bacterial pathogens associated with stillbirths that would serve to inform clinical interventions directed at reducing this adverse pregnancy outcome. A prospective observational study
Externí odkaz:
https://doaj.org/article/79089397f69a4efe8c809d8dc2afdb88
Publikováno v:
Stem Cell Research, Vol 33, Iss , Pp 56-59 (2018)
Hypertrophic cardiomyopathy is an inherited cardiomyopathy with a prevalence of up to 1 in 200, which can result in significant morbidity and mortality. An iPSC line was generated from peripheral blood mononuclear cells obtained from the whole blood
Externí odkaz:
https://doaj.org/article/52f8d0bdea364c018c14ec3a248ab180
Autor:
Mira Holliday, Samantha Barratt Ross, Seakcheng Lim, Melissa Mangala, Adam Hill, Henrietta Cserne Szappanos, Livia Hool, Christopher Semsarian
Publikováno v:
Stem Cell Research, Vol 33, Iss , Pp 269-273 (2018)
Hypertrophic cardiomyopathy (HCM) is an inherited cardiomyopathy characterized by left ventricular hypertrophy ≥15 mm in the absence of loading conditions. HCM has a prevalence of up to one in 200, and can result in significant adverse outcomes inc
Externí odkaz:
https://doaj.org/article/b3ffde124cee4cf2bb4bb302cafe55c5
Publikováno v:
Stem Cell Research, Vol 37, Iss , Pp - (2019)
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmia syndrome characterized by adrenaline induced ventricular tachycardia. The primary genetic aetiologies underlying CPVT are either autosomal dominant or autosomal recessive i
Externí odkaz:
https://doaj.org/article/c38c378638264d3097dea5b389561f5f
Publikováno v:
Stem Cell Research, Vol 33, Iss, Pp 56-59 (2018)
Hypertrophic cardiomyopathy is an inherited cardiomyopathy with a prevalence of up to 1 in 200, which can result in significant morbidity and mortality. An iPSC line was generated from peripheral blood mononuclear cells obtained from the whole blood
Autor:
Christopher Semsarian, Richard D. Bagnall, Samantha Barratt Ross, Mira Holliday, Sean Lal, Seakcheng Lim, Jodie Ingles, Emma S. Singer
Publikováno v:
Circulation: Genomic and Precision Medicine. 14
Background: Transcriptome sequencing can improve genetic diagnosis of Mendelian diseases but requires access to tissue expressing disease-relevant transcripts. We explored genetic testing of hypertrophic cardiomyopathy using transcriptome sequencing
Autor:
Mira, Holliday, Emma S, Singer, Samantha B, Ross, Seakcheng, Lim, Sean, Lal, Jodie, Ingles, Christopher, Semsarian, Richard D, Bagnall
Publikováno v:
Circ Genom Precis Med
BACKGROUND: Transcriptome sequencing can improve genetic diagnosis of Mendelian diseases but requires access to tissue expressing disease-relevant transcripts. We explored genetic testing of hypertrophic cardiomyopathy using transcriptome sequencing