Results 101 to 110 of about 433,578 (358)

Newborn screening in mucopolysaccharidoses

Italian Journal of Pediatrics, 2018
Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there is a clear evidence that early intervention significantly improves the outcome.
Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo, Alberto Burlina   +4 more
doaj   +1 more source

The Role of Lonp1 on Mitochondrial Functions during Cardiovascular and Muscular Diseases. [PDF]

Antioxidants (Basel), 2023
Zanini G, Selleri V, Malerba M, Solodka K, Sinigaglia G, Nasi M, Mattioli AV, Pinti M.   +7 more
europepmc   +1 more source

Detection of Metabolites by Proton Ex Vivo NMR, in Vivo MR Spectroscopy Peaks and Tissue Content Analysis: Biochemical-Magnetic Resonance Correlation: Preliminary Results [PDF]

, 2009
*Aim*: Metabolite concentrations by in vivo magnetic resonance spectroscopy and ex vivo NMR spectroscopy were compared with excised normal human tissue relaxation times and tissue homogenate contents. *Hypothesis*: Biochemical analysis
Arun Agrawala, Madan Rehani, Rakesh Sharma   +2 more
core   +1 more source

A History of Dystonia: Ancient to Modern [PDF]

, 2017
Before 1911, when Hermann Oppenheim introduced the term dystonia, this movement disorder lacked a unifying descriptor. While words like epilepsy, apoplexy, and palsy have had their meanings since antiquity, references to dystonia are much harder to ...
Deborah Thorpe, Jane Alty, Peter Kempster, Rachel Newby   +3 more
core   +1 more source

Colorectal cancer‐derived FGF19 is a metabolically active serum biomarker that exerts enteroendocrine effects on mouse liver

Molecular Oncology, EarlyView.
Meta‐transcriptome analysis identified FGF19 as a peptide enteroendocrine hormone associated with colorectal cancer prognosis. In vivo xenograft models showed release of FGF19 into the blood at levels that correlated with tumor volumes. Tumoral‐FGF19 altered murine liver metabolism through FGFR4, thereby reducing bile acid synthesis and increasing ...
Jordan M. Beardsley, Michael W. Rohr, Joseph A. Goode, Sai Preethi Nakkina, Jignesh G. Parikh, Deborah A. Altomare   +5 more
wiley   +1 more source

Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy [PDF]

, 2013
Duchenne muscular dystrophy is a severe inherited muscle disease that affects 1 in 3500 boys worldwide. Infiltration of skeletal muscle by inflammatory cells is an important facet of disease pathophysiology and is strongly associated with disease ...
De Bleecker, Jan, De Paepe, Boel
core   +3 more sources

ATG4B is required for mTORC1‐mediated anabolic activity and is associated with clinical outcomes in non‐small cell lung cancer

FEBS Open Bio, EarlyView.
The relationship between anabolic and catabolic processes governing lung cancer cell growth is nuanced. We show that ATG4B, an autophagy regulator, is elevated in lung cancer and that high ATG4B is associated with worse patient outcomes. Targeting ATG4B in cells reduces growth, protein synthesis, and mTORC1 activity, demonstrating a new relationship ...
Patrick J. Ryan, Bethany C. Guerra, Selina Uranga, Jessica M. Cardin, Steven E. Riechman, Mariana Janini Gomes, James D. Fluckey   +6 more
wiley   +1 more source

Diabetes‐induced vascular calcification is associated with low pyrophosphate and its oral supplementation prevents calcification in diabetic mice

FEBS Open Bio, EarlyView.
Induction of diabetes in three different mouse strains uniformly resulted in an increase in TNAP activity and a reduction in pyrophosphate (PPi) in the circulation. Inhibition of TNAP restored plasma PPi. Diabetes‐induced calcification in the media layer of the aorta was detected only in the Abcc6−/− strain, which is predisposed to ectopic ...
Krisztina Fülöp, Eszter Kozák, Natália Tőkési, Lilian Kocsis, Anikó Kelemen, Zsuzsanna Geszti, Adriána Kutás, Mariann Harangi, Ágnes Diószegi, Zsolt Rapi, József Balla, Olivier Le Saux, András Váradi, Viola Pomozi   +13 more
wiley   +1 more source

Muscular Atrophy and Ophthalmoplegia Associated with Graves' Disease [PDF]

, 1931
D. Denny‐Brown
openalex   +1 more source

Calcium‐sensing receptor induces the apoptosis of chondrocytes in cooperation with phosphate transporter

FEBS Open Bio, EarlyView.
Excess Ca2+ ions activate the Calcium‐Sensing Receptor (CaSR), which subsequently drives the uptake of excess inorganic phosphate (Pi) via the Pi transporter (Pit−1) in chondrocytes. This mechanism causes a toxic increase in intracellular Pi concentration, ultimately leading to chondrocyte apoptosis and pathological mineralization. Excess extracellular
Sachie Nakatani, Hiroya Ueda, Ayumi Kawata, Yuki Sato, Kotomi Inomata, Hiroshi Mano, Masahiro Wada, Kenji Kobata   +7 more
wiley   +1 more source