Results 131 to 140 of about 267,372 (195)

A Germline Missense Variant in the NSDHL Gene Underlies Inflammatory Linear Verrucous Epidermal Nevus

Pediatric Dermatology, EarlyView.
ABSTRACT Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disorder characterized by pruritic, erythematous, and scaly plaques following Blaschko's lines. Known genetic causes include somatic variants in CARD14 and GJA1. In addition, a similar phenotype of congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD ...
Janan Mohamad, Kiril Malovitski, Moshe Giladi, Eylon Sharoni, Nabih Elias, Yarden Feller, Jacob Mashiah, Moran Furman, Ofer Sarig, Eli Sprecher, Liat Samuelov   +10 more
wiley   +1 more source

Transcript correlation analysis for the identification of novel plant genes involved in iron metabolism and beyond: what next?

Plant Biology, EarlyView.
Transcript correlation analysis allowed the identification of several key nodes in the complex regulatory network of plant iron metabolism. Abstract Arabidopsis thaliana was the first plant genome to be fully sequenced, almost a quarter of a century ago, thanks to The Arabidopsis Genome Initiative, with contributions from scientists worldwide.
I. Murgia, P. Morandini
wiley   +1 more source

Dietary amino acid patterns and epilepsy among the PERSIAN cohort population: A cross‐sectional study

Experimental Physiology, EarlyView.
Abstract Epilepsy is characterized by the occurrence of at least two unprovoked seizures occurring more than 24 h apart, reflecting a predisposition to recurrent epileptic events. The role of dietary amino acids (AAs) in epilepsy is not clearly understood. To the best of our knowledge, this study is the first to investigate the link between the odds of
Hamid Abbasi, Ali Jafari, Saeid Doaei, Akram Kooshki, Raul Zamora‐Ros   +4 more
wiley   +1 more source

Covalent Modification of the Flavin in Proline Dehydrogenase by Thiazolidine-2-Carboxylate. [PDF]

ACS Chem Biol, 2020
Campbell AC, Becker DF, Gates KS, Tanner JJ.   +3 more
europepmc   +1 more source

Hypoxia and hypercapnia elicit overlapping but distinct skeletal muscle toxicities

The Journal of Physiology, EarlyView.
Abstract figure legend Hypoxia and hypercapnia cause overlapping skeletal muscle phenotypes, including atrophy, change in myofibre metabolic profile and myogenic response to injury. Both signals operate via distinct cellular pathways. Abstract Skeletal muscle dysfunction is strongly associated with elevated mortality in acute and chronic pulmonary ...
Joseph Balnis, Ariel Jaitovich
wiley   +1 more source

Post‐exercise ketone supplementation improves endurance performance and mitochondrial adaptations during an 8‐week endurance training intervention

The Journal of Physiology, EarlyView.
Abstract figure legend Twenty‐eight trained males completed 8 weeks of supervised indoor cycling training, receiving post‐exercise and pre‐sleep ketone monoester (KE, n = 14) or isocaloric placebo (CON, n = 14). Both groups improved 30 min time‐trial performance with training, but KE achieved a 4% higher power output than CON at the end of the training
Ruben Robberechts, Youri Bekhuis, Myrthe Stalmans, Wout Lauriks, Martijn Kusters, Karim Taha, Thomas Rosseel, Guido Claessen, Chiel Poffé   +8 more
wiley   +1 more source

Warburg redefined: Metabolites, mitochondria and macrophages in immune regulation

The Journal of Physiology, EarlyView.
Abstract figure legend Following pro‐inflammatory stimulation, macrophages undergo Warburg‐like metabolic rewiring that extends more than increased glycolysis. The non‐canonical functions of glycolytic enzymes and lactate accumulation control macrophage immune responses through multiple signalling pathways (a).
Yukun Min, Órlaith C. Henry, Luke A. J. O'Neill   +2 more
wiley   +1 more source

Mitochondrial permeability transition in skeletal muscle phenocopies muscle alterations seen in cancer cachexia and other wasting conditions

The Journal of Physiology, EarlyView.
Abstract figure legend Skeletal muscle wasting conditions are characterized by muscle fibre atrophy, mitochondrial respiratory dysfunction, mitochondrial depletion and fragmentation of acetylcholine receptor (AChR) cluster at the neuromuscular junction.
Maya Semel, Cole Lukasiewicz, Sarah Skinner, Mark R. Viggars, Sung Gi Noh, Martin Picard, Abbey‐Gale Mannings, Michael S. Cohen, Dennis W. Wolan, Terence E. Ryan, Russell T. Hepple   +10 more
wiley   +1 more source

Proline dehydrogenase activity of mungbean rhizobia and their proline prototrophs in relation to their efficacy in symbiotic association

, 1999
1234-1240Proline dehydrogeanase (ProDH) is a key enzyme which catabolises proline to yield additional energy to support N2 fixation in legume root nodules. Tn5 mutagenesis of four mungbean infeccting Rhizobium  strains Mo-2 ,Mo-6 PP9038 (PH9022) and G-
Khurana, A L, Dudeja, S S, Sharma, H R, Malik, M S, Chaudhary, S   +4 more
core  

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source