Results 141 to 150 of about 9,448,988 (355)

The Cone Dysfunction Syndromes [PDF]

, 2016
The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly stationary retinal disorders characterised by reduced central vision, and varying degrees of colour vision abnormalities, nystagmus and photophobia.
Aboshiha, J, Carroll, J, Dubis, AM, Harcastle, AJ, Michaelides, M   +4 more
core  

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Innovative Strategies for Hearing Loss Treatment

Quality in Sport
Introduction: Hearing loss significantly impacts patients' quality of life, making it an increasingly common issue, particularly among the elderly. Hearing loss is assessed based on the sound intensity threshold in decibels, ranging from mild (21–40
Krystian Żuk, Alicja Góral, Kamila Duszyńska, Karol Dolepski, Michał Czachajda   +4 more
doaj   +1 more source

Genetic Therapy and Molecular Targeted Therapy in Oncology: Safety, Pharmacovigilance, and Perspectives for Research and Clinical Practice. [PDF]

Int J Mol Sci, 2022
Orzetti S, Tommasi F, Bertola A, Bortolin G, Caccin E, Cecco S, Ferrarin E, Giacomin E, Baldo P.   +8 more
europepmc   +1 more source

How Can We Move Clinical Genomics Beyond the Hype? [PDF]

, 2011
Examines the debate over increased use of genetic testing, due in part to lax regulation, and its consequences: wasteful spending, patient harm, and health system challenges.
Michael L. Millenson
core  

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

FEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai, Mizuki Seo, Gyath Karadsheh, Fachrur Rizal Mahendra, Máté Á Demény, Ferenc Győry, János András Mótyán, László Fésüs, Endre Kristóf, Rini Arianti   +9 more
wiley   +1 more source

Tau acetylation at K331 has limited impact on tau pathology in vivo

FEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto, Yukio Matsuba, Mika Takahashi, Takaomi C. Saido   +3 more
wiley   +1 more source

Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy. [PDF]

Mol Ther Nucleic Acids, 2021
Šikrová D, Cadar VA, Ariyurek Y, Laros JFJ, Balog J, van der Maarel SM.   +5 more
europepmc   +1 more source

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

With newer tools for gene editing, is it time to revisit genetic therapy for cystic fibrosis? [PDF]

Genes Dis, 2021
Gupta A, Gupta A, Boyd L.
europepmc   +1 more source