Results 271 to 280 of about 3,890,295 (331)

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

Nitric oxide: a gas transmitter in healthy and diseased skin. [PDF]

Med Gas Res
Zaborova V, Budanova E, Kryuchkova K, Rybakov V, Shestakov D, Isaikin A, Romanov D, Churyukanov M, Vakhnina N, Zakharov V, Isaikin I, Kinkulkina M.   +11 more
europepmc   +1 more source

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini, Rosario Vasta, Alberto Brusati, Francesco Scheveger, Silvia Peverelli, Alessio Maranzano, Alberto Doretti, Francesco Gentile, Eleonora Colombo, Maura Brunetti, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Davide Gentilini, Stefano Messina, Federico Verde, Claudia Morelli, John E. Landers, Bryan J. Traynor, Adriano Chiò, Vincenzo Silani, Andrea Calvo, Antonia Ratti, Nicola Ticozzi   +24 more
wiley   +1 more source

Dynamics of Fatty Acid Composition in Lipids and Their Distinct Roles in Cardiometabolic Health. [PDF]

Biomolecules
Toncan F, Raj RR, Lee MJ.
europepmc   +1 more source

The Mechanosensitive PIEZO1 Channel Contributes to the Reaction of RAW264.7 Macrophages to Mechanical Strain. [PDF]

Mediators Inflamm
Schröder A, Engelhardt H, Nogueira A, Clausen B, Kirschneck C, Jantsch J, Proff P, Renner K, Paddenberg-Schubert E.   +8 more
europepmc   +1 more source

Targeting Inflammatory Imbalance in Chronic Kidney Disease: Focus on Anti-Inflammatory and Resolution Mediators. [PDF]

Int J Mol Sci
Rispoli RM, Popolo A, De Fabrizio V, d'Emmanuele di Villa Bianca R, Autore G, Dalli J, Marzocco S.   +6 more
europepmc   +1 more source

Inflammation impairs post-hospital discharge growth among children hospitalised with acute illness in sub-Saharan Africa and south Asia

Njunge J, Mudibo E, Bogaert J, Orindi B, Sande C, Bourdon C, Tigoi C, Ngari M, Ngao N, Omer E, Gumbi W, Musyimi R, Timbwa M, Mwaringa S, Gwela A, Thitiri J, Mupere E, Lancioni C, Singa B, Diallo A, Bamouni R, Chisti M, Shahid A, Ahmed T, Saleem A, Ali A, Uhlig H, Bandsma R, Tickell K, Walson J, Berkley J.   +30 more
europepmc   +1 more source

Exploring the association between dietary indices and metabolic dysfunction-associated steatotic liver disease: Mediation analysis and evidence from NHANES. [PDF]

PLoS One
Wang Q, Chen R, Chen S, Wei B, Liu C, Jiang Z.   +5 more
europepmc   +1 more source

Editorial: Bone-organ axis: an expanding universe. [PDF]

Front Endocrinol (Lausanne)
Zhang P, Wang Y, Guo Y, Liu X.
europepmc   +1 more source

Endocannabinoid Tone and Oxylipins in Rheumatoid Arthritis and Osteoarthritis-A Novel Target for the Treatment of Pain and Inflammation? [PDF]

Int J Mol Sci
Klawitter J, Clauw AD, Seifert JA, Klawitter J, Tompson B, Sempio C, Ingram SL, Christians U, Moreland LW.   +8 more
europepmc   +1 more source