Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

Autor: Kyle Thompson, Lucas Bianchi, Francesca Rastelli, Florence Piron-Prunier, Sophie Ayciriex, Claude Besmond, Laurence Hubert, Magalie Barth, Inês A. Barbosa, Charu Deshpande, Manali Chitre, Sarju G. Mehta, Eric J.M. Wever, Pascale Marcorelles, Sandra Donkervoort, Dimah Saade, Carsten G. Bönnemann, Katherine R. Chao, Chunyu Cai, Susan T. Iannaccone, Andrew F. Dean, Robert McFarland, Frédéric M. Vaz, Agnès Delahodde, Robert W. Taylor, Agnès Rötig

Publikováno v: HGG Advances, Vol 3, Iss 2, Pp 100097- (2022)

Summary: Mitochondrial disorders are clinically and genetically heterogeneous, with variants in mitochondrial or nuclear genes leading to varied clinical phenotypes. TAMM41 encodes a mitochondrial protein with cytidine diphosphate-diacylglycerol synt

Externí odkaz: https://doaj.org/article/3e06951a912a4d6080e971a99e6d10b0

Somatostatin Receptor PET/MR Imaging of Inflammation in Patients With Large Vessel Vasculitis and Atherosclerosis

Autor: Andrej Ćorović, Christopher Wall, Meritxell Nus, Deepa Gopalan, Yuan Huang, Maria Imaz, Michal Zulcinski, Marta Peverelli, Anna Uryga, Jordi Lambert, Dario Bressan, Robert T. Maughan, Charis Pericleous, Suraiya Dubash, Natasha Jordan, David R. Jayne, Stephen P. Hoole, Patrick A. Calvert, Andrew F. Dean, Doris Rassl, Tara Barwick, Mark Iles, Mattia Frontini, Greg Hannon, Roido Manavaki, Tim D. Fryer, Luigi Aloj, Martin J. Graves, Fiona J. Gilbert, Marc R. Dweck, David E. Newby, Zahi A. Fayad, Gary Reynolds, Ann W. Morgan, Eric O. Aboagye, Anthony P. Davenport, Helle F. Jørgensen, Ziad Mallat, Martin R. Bennett, James E. Peters, James H.F. Rudd, Justin C. Mason, Jason M. Tarkin

Publikováno v: Ćorović, A, Wall, C, Nus, M, Gopalan, D, Huang, Y, Imaz, M, Zulcinski, M, Peverelli, M, Uryga, A, Lambert, J, Bressan, D, Maughan, R T, Pericleous, C, Dubash, S, Jordan, N, Jayne, D R, Hoole, S P, Calvert, P A, Dean, A F, Rassl, D, Barwick, T, Iles, M, Frontini, M, Hannon, G, Manavaki, R, Fryer, T D, Aloj, L, Graves, M J, Gilbert, F J, Dweck, M R, Newby, D E, Fayad, Z A, Reynolds, G, Morgan, A W, Aboagye, E O, Davenport, A P, Jørgensen, H F, Mallat, Z, Bennett, M R, Peters, J E, Rudd, J H F, Mason, J C & Tarkin, J M 2023, ' Somatostatin Receptor PET/MR Imaging of Inflammation in Patients with Large Vessel Vasculitis and Atherosclerosis ', Journal of the American College of Cardiology, vol. 81, no. 4, pp. 336-354 . https://doi.org/10.1016/j.jacc.2022.10.034, https://doi.org/10.1016/j.jacc.2022.10.034

Background:Assessing inflammatory disease activity in large vessel vasculitis (LVV) can be challenging by conventional measures. Objectives:We aimed to investigate somatostatin receptor 2 (SST2) as a novel inflammation-specific molecular imaging targ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::160dc50b6bb26e3f1bcc28ffe5e6ba6c
https://zenodo.org/record/7912981

Biallelic variants in

Autor: Kyle, Thompson, Lucas, Bianchi, Francesca, Rastelli, Florence, Piron-Prunier, Sophie, Ayciriex, Claude, Besmond, Laurence, Hubert, Magalie, Barth, Inês A, Barbosa, Charu, Deshpande, Manali, Chitre, Sarju G, Mehta, Eric J M, Wever, Pascale, Marcorelles, Sandra, Donkervoort, Dimah, Saade, Carsten G, Bönnemann, Katherine R, Chao, Chunyu, Cai, Susan T, Iannaccone, Andrew F, Dean, Robert, McFarland, Frédéric M, Vaz, Agnès, Delahodde, Robert W, Taylor, Agnès, Rötig

Publikováno v: HGG advances. 3(2)

Mitochondrial disorders are clinically and genetically heterogeneous, with variants in mitochondrial or nuclear genes leading to varied clinical phenotypes.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::77ca9e942951cc8b36754d4e542cb447
https://pubmed.ncbi.nlm.nih.gov/35321494

Post-mortem confirmation of fetal brain abnormalities: challenges highlighted by the MERIDIAN cohort study

Autor: Paul D. Griffiths, Cara Mooney, Gerald Mason, Deborah Jarvis, Andrew F. Dean

OBJECTIVES To assess and analyse the concordance between post-mortem findings and in utero magnetic resonance imaging (iuMRI) in the MERIDIAN (MRI to enhance the diagnosis of fetal developmental brain abnormalities in utero) cohort. DESIGN Prospectiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81e24875a0e9d27b587f9b2029722f56

Surface reconstructions of foetal brain abnormalities using ultrafast steady state 3D acquisitions

Autor: Paul D. Griffiths, Andrew F. Dean, Paul A. Armitage, Deborah Jarvis

Publikováno v: Clinical Radiology. 69:1084-1091

MRI of the foetal brain in utero is performed in routine clinical practice using sequences that produce two-dimensional (2D) images. Recent developments in image post-processing have allowed the construction of three-dimensional (3D) volume data sets

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffff1cb0ee27bf88830fcb117274eb24
https://doi.org/10.1016/j.crad.2014.06.014