Results 241 to 250 of about 1,188,614 (310)

Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe

FEBS Open Bio, EarlyView.
Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley   +1 more source

Mitochondrial Disorder in a Child With Brainstem Lesions Mimicking Thiamine Deficiency. [PDF]

Cureus
Asfour MA, Nedimyer Horner J, Gupta K, Silva G, Chandra T, Rossi G.   +5 more
europepmc   +1 more source

Conquest of deficiency diseases. 10. Other deficiency diseases.

Indian journal of medical sciences, 1972
openaire   +1 more source

Hands‐on protocol for preparing water‐soluble fractions from agri‐food samples for NMR‐based metabolomics analysis

FEBS Open Bio, EarlyView.
This research protocol outlines a workflow for nuclear magnetic resonance (NMR)‐based metabolomics in the agri‐food sector. Using two case studies—strawberry leaves (solid matrix) and wine (liquid matrix)—it details the procedures for sample preparation, data acquisition, and processing.
Andrea Fernández‐Veloso, Jaime Hiniesta‐Valero, Alejandra Guerra‐Castellano, Miguel A. De la Rosa, Irene Díaz‐Moreno   +4 more
wiley   +1 more source

COVID-19 outcomes in individuals with severe alpha-1 antitrypsin deficiency in Sweden. [PDF]

Sci Rep
Zaigham S, Piitulainen E, Tanash H.
europepmc   +1 more source

Ameliorative Effect of Beetroot Against Folic Acid Deficiency: A Review. [PDF]

Food Sci Nutr
Rasheed A, Saeed F, Ikram A, Arshad MT, Maqsood S, Naveed F, Islam M, Laryea E.   +7 more
europepmc   +1 more source

Longitudinal Evidence of Sustained Taurine Deficiency in Inflammatory Bowel Disease. [PDF]

Int J Mol Sci
Frascatani R, Mattogno A, Salvatori S, Iannucci A, Marafini I, Monteleone G.   +5 more
europepmc   +1 more source

NF Erythroid 2-Related Factor 2 Peroxisome Proliferator-Activated Receptor-γ Crosstalk: Reprogramming Monocytic Myeloid-Derived Suppressor Cells in Kidney Disease. [PDF]

Kidney360
Imig JD.
europepmc   +1 more source

Is glucose-6-phosphate dehydrogenase deficiency associated with COVID-19 infection, severity, and death? A cohort study from the Brazilian Amazon. [PDF]

PLoS One
Dias ALB, Nascimento JR, Brito-Sousa JD, Sartim MA, da Silva KF, Silva-Neto AV, Dos Santos Mouta G, da Silva Balieiro PC, Baia-da-Silva DC, Almeida-Val F, de Melo GC, Sampaio VS, Lacerda M, Monteiro W.   +13 more
europepmc   +1 more source