Results 61 to 70 of about 6,741 (226)

Aboriginal families living with MJD in remote Australia: questions of access and equity. [PDF]

Int J Equity Health
AbstractManaging genetic disease using medically assisted reproductive technology is increasingly promoted as a feasible option, given revolutionary advances in genomics. Far less attention has been directed to the issue of whether there is equitable access to this option.
Massey L, Gilroy J, Kowal E, Doolan D, Clough A.   +4 more
europepmc   +6 more sources

Bio‐Inspired Synthesis of Macroporous Single Crystal Particles as Scattering Agents

Advanced Functional Materials, EarlyView.
A general strategy is presented that delivers unique, single‐crystal microparticles that combine submicron macroporosity and uniform particle shapes. A bioinspired approach is used to occlude three distinct types of additives – polystyrene microspheres, polymer vesicles and amino acids – within calcite single crystals, and subsequent thermal annealing ...
Stephanie E. Foster, Gianni Jacucci, Ouassef Nahi, Thomas Kress, Zabeada Aslam, Stuart Micklethwaite, Alexander N. Kulak, Rik Drummond‐Brydson, Melinda J. Duer, Yi‐Yeoun Kim, Silvia Vignolini, Fiona C. Meldrum   +11 more
wiley   +1 more source

MJDs family members: Potential prognostic targets and immune-associated biomarkers in hepatocellular carcinoma

Frontiers in Genetics, 2022
Hepatocellular carcinoma (HCC) is one of the most common gastrointestinal malignancies. It is not easy to be diagnosed in the early stage and is prone to relapse, with a very poor prognosis. And immune cell infiltration and tumor microenvironment play important roles in predicting therapeutic response and prognosis of HCC.
Lei Zhou, Lei Zhou, Guojie Chen, Tao Liu, Tao Liu, Xinyuan Liu, Xinyuan Liu, Chengxiao Yang, Chengxiao Yang, Jianxin Jiang, Jianxin Jiang, Jianxin Jiang   +11 more
openaire   +3 more sources

Mechanical and Electrical Phenotype of hiPSC‐Cardiomyocytes on Fibronectin‐Based Hydrogels

Advanced Healthcare Materials, EarlyView.
We introduce fibronectin‐based PEG hydrogels with controlled rigidity to enable the culture of iPSC‐derived cardiomyocytes. These substrates offer an alternative to the current culture of these cells on fibronectin‐coated glass, providing enhanced structural and functional behavior. The system provides a more physiologically relevant platform to assess
Ana Da Silva Costa, Lineta Stonkute, Sara Trujillo, Mariana Azevedo Gonzalez Oliva, Francis Burton, Matthew J. Dalby, Oana Dobre, Godfrey Smith, Manuel Salmeron‐Sanchez   +8 more
wiley   +1 more source

A snapshot of Indigenous Australian disability in the very remote communities of: Groote Eylandt Archipelago (Angurugu, Umbakumba Milyakburra), Galiwin’ku, Ngukurr (including Urapunga) [PDF]

, 2013
Executive summary Brief overview of the projectThe objectives of this ‘Disability Audit’ (‘the study’) were to:Provide a comprehensive snapshot of permanent disability in the nominated very remote Indigenous communities.
Libby Massey
core  

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3 [PDF]

, 2008
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an autosomal-dominant neurodegenerative disorder caused by a polyglutamine expansion in ataxin-3 (SCA3, MJD1) protein.
X. Chen, Bezprozvanny, I, Nelson, O, Hammer, R, Tu, H, Nukina, N, O. Nelson, N. Nukina, Chen, X, Tang, TS, T.-S. Tang, Pook, M, H. Tu, R. Hammer, I. Bezprozvanny, M. Pook   +15 more
core   +1 more source

RNA Expression Profile and Potential Biomarkers in Patients With Spinocerebellar Ataxia Type 3 From Mainland China

Frontiers in Genetics, 2019
Long non-coding RNAs (lncRNAs) play an important role in growth, development, and reproduction and undoubtedly contribute to the pathogenesis and progression of diseases.
Tianjiao Li, Xiaocan Hou, Zhao Chen, Yun Peng, Puzhi Wang, Yue Xie, Lang He, Hongyu Yuan, Huirong Peng, Rong Qiu, Kun Xia, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Hong Jiang, Hong Jiang, Hong Jiang, Hong Jiang   +18 more
doaj   +1 more source

Functional Analysis of Ligand‐Gated Chloride Channels in a Cnidarian Sheds Light on the Evolution of Inhibitory Signaling

Advanced Science, EarlyView.
We uncover a large variety of putative inhibitory ligand‐gated ion channels (LGICs) in the phylum Cnidaria, the sister group to all bilaterian animals. Phylogenetic analysis suggests a complex evolutionary history of inhibitory LGICs with diverse neurotransmitter ligands.
Abhilasha Ojha, Linda Kloss, Juan D. Montenegro, Simone Albani, Audrey Ortega‐Ramírez, Mihaela Raycheva, Sylvia Joussen, Sabrina Kaul, Michèle Bachmann, Lisa Huf, Günther Schmalzing, Alison G. Cole, Ulrich Technau, Stefan Gründer   +13 more
wiley   +1 more source

CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation [PDF]

Human Molecular Genetics, 2000
Machado-Joseph disease (MJD) is one of several disorders caused by the expansion of a coding CAG repeat (exp-CAG). The presence of intranuclear inclusions (INIs) in patients and cellular models of exp-CAG-associated diseases has lead to a nuclear toxicity model.
C, Gaspar, M, Jannatipour, P, Dion, J, Laganière, J, Sequeiros, B, Brais, G A, Rouleau   +6 more
openaire   +2 more sources

Gut–Brain Axis Modulation by Short‐Chain Fatty Acids Exerts Disease‐Modifying Effects in a Murine Model of Drug‐Resistant Epilepsy

Annals of Neurology, EarlyView.
Objective Drug‐resistant epilepsy (DRE) remains a clinical challenge, as therapies modifying disease trajectory are lacking. Increasing evidence implicates gut microbiota dysbiosis in epilepsy pathophysiology, with short‐chain fatty acids (SCFAs) emerging as key microbial metabolites with neuroprotective and anti‐inflammatory properties.
Akash A. Bera, Rossella Di Sapia, Greta Volpedo, Sneha Anand, Eray Sahin, Pasquale Baldassarre, Francesca Buffelli, Andrea Petretto, Chiara Lavarello, James D. Mills, Gabriele Cattaneo, Ilaria Craparotta, Eleonora Aronica, Antonella Riva, Pasquale Striano, Annamaria Vezzani, Teresa Ravizza   +16 more
wiley   +1 more source