Results 221 to 230 of about 565,766 (339)

Exome‐based genotype‐first reverse phenotyping using structured electronic health record data identifies novel SERPINA1 variants associated with liver markers and demonstrates a dominant effect for specific variants on liver phenotype

Hepatology Research, EarlyView.
Overview of the exome‐based genotype‐first reverse phenotyping approach targeting SERPINA1. The schematic illustrates key pathways, including cytolysis, cholestasis, and liver synthesis, alongside clinical and biological phenotyping through data extraction and an exome‐wide association approach.
Maël Silva Rodriguez, Margaux Mulot, Céline Chéry, Mouni Bensenane, Rosa‐Maria Guéant‐Rodriguez, Roland Jaussaud, Aurélie Cobat, François Feillet, Jean‐Pierre Bronowicki, Farès Namour, Jean‐Louis Guéant, Abderrahim Oussalah   +11 more
wiley   +1 more source

Hepatic ChREBP orchestrates intrahepatic carbohydrate metabolism to limit hepatic glucose 6-phosphate and glycogen accumulation in a mouse model for acute Glycogen Storage Disease type Ib

Molecular Metabolism
Objective: Carbohydrate Response Element Binding Protein (ChREBP) is a glucose 6-phosphate (G6P)-sensitive transcription factor that acts as a metabolic switch to maintain intracellular glucose and phosphate homeostasis.
K.A. Krishnamurthy, M.G.S. Rutten, J.A. Hoogerland, T.H. van Dijk, T. Bos, M. Koehorst, M.P. de Vries, N.J. Kloosterhuis, H. Havinga, B.V. Schomakers, M. van Weeghel, J.C. Wolters, B.M. Bakker, M.H. Oosterveer   +13 more
doaj  

The Pathology and Blood Biochemistry of Juvenile Lates calcarifer on Diets Contaminated With Mycotoxins, Histamines and Rancid Fats—A Case Study

Journal of Fish Diseases, EarlyView.
ABSTRACT Mycotoxins, originating from contaminated raw materials or suboptimal feed storage, are a growing concern in tropical aquaculture. Common fungi such as Aspergillus spp. and Fusarium spp. produce mycotoxins including aflatoxin, fumonisin, deoxynivalenol and zearalenone. High doses or prolonged exposure (weeks) to low doses of these mycotoxins (<
Aidan Kwok, Jose A. Domingos, Joseph Oh, Piero Chan, Joyce J. L. Ong, Leo Nankervis, Jeffrey Ling, Robert Nichol, Susan Gibson‐Kueh   +8 more
wiley   +1 more source

Gene Therapy for Type I Glycogen Storage Diseases [PDF]

, 2007
Janice Y. Chou, Brian C. Mansfield
openalex   +1 more source

Integrative Genomics Refines Tissues, Candidate Genes and Putative Regulatory Links Involved in the Humic Adaptation of Keystone Freshwater Fish

Molecular Ecology, EarlyView.
ABSTRACT Although population genomics approaches have been successful in identifying regions of the genome shaped by natural selection, progress in dissecting the molecular mechanisms of adaptive variants and traits has been slow. By integrating multi‐tissue (gill, spleen, olfactory rosette, whole eye, and liver) transcriptomes from 16 wild Eurasian ...
M. Yu. Ozerov, K. Noreikiene, K. Taube, R. Gross, A. Vasemägi   +4 more
wiley   +1 more source

Vascular Dysfunction in Glycogen Storage Disease Type I [PDF]

, 2008
Angelina Bernier, Catherine E. Correia, Michael J. Haller, Douglas W. Theriaque, Jonathan J. Shuster, David A. Weinstein   +5 more
openalex   +1 more source

Portasystemic shunting for metabolic disease [PDF]

, 1979
Benichou, J, Starzl, TE
core  

Constitutive Differences in Immune Gene Expression Are Correlated With Wood Frog Populations From Contrasting Winter Environments

Molecular Ecology, EarlyView.
ABSTRACT Many terrestrial ectotherms have gone to great evolutionary lengths to adapt to long cold winters; some have even evolved the ability to tolerate the freezing of most of the extracellular fluid in the body. Now, however, high‐elevation and high‐latitude winters are experiencing an accelerated period of warming.
Grace J. Vaziri, Noah M. Reid, Tracy A. G. Rittenhouse, Daniel I. Bolnick   +3 more
wiley   +1 more source

Increased scavenger receptor class B type I-mediated cellular cholesterol efflux and antioxidant capacity in the sera of glycogen storage disease type Ia patients

, 2006
Andrew D. Nguyen, Chi‐Jiunn Pan, David A. Weinstein, Janice Y. Chou   +3 more
openalex   +1 more source

Is There a Specific Role for Fungal Protein Within Food Based Dietary Guidelines? A Roundtable Discussion

Nutrition Bulletin, EarlyView.
ABSTRACT Expanding and aging populations, sustainability drivers and changing attitudes to the way we eat mean that there has been growing interest in non‐animal derived protein food sources. Given this shift, there has been an uprise in consumer demand and commercial innovation of meat analogues and alternative protein food sources. The question, with
Emma J. Derbyshire, John M. Brameld, Benjamin T. Wall, Paul Thomas, Ursula Arens, Ciarán G. Forde, Wendy Hall, Andrea J. Glenn, Tom R. Hill, Jenny Paxman   +9 more
wiley   +1 more source