Results 121 to 130 of about 43,378 (245)

Genetic insights into unexplained infant jaundice: a study from northern Guangdong, China. [PDF]

Front Pediatr
Gao F, Li S, Chen Y, Zhou Y, Hu L, Qiu J.   +5 more
europepmc   +1 more source

Angiopoietin‐like protein 3 complete and partial deficiency markedly accelerates apolipoprotein B48 and B100 metabolism in triglyceride‐rich lipoproteins in humans

Journal of Internal Medicine, Volume 300, Issue 3, Page 312-328, September 2026.
Abstract Background Angiopoietin‐like protein 3 (ANGPTL3) is a key circulating regulator of triglyceride metabolism and a promising pharmacological target. The physiological consequences of profound ANGPTL3 deficiency can be explored in individuals with inherited loss‐of‐function (LOF) variants, who show reduced lifetime risk of atherosclerotic ...
Marcello Arca, Elias Björnson, Laura D'Erasmo, Alessia Di Costanzo, Simone Bini, Ilenia Minicocci, Daniele Tramontano, Stella Covino, Giuseppe Ciarlo, Manuela Lombardi, Sanni Söderlund, Niina Matikainen, Linda Andersson, Martin Adiels, Marja‐Riitta Taskinen, Chris J. Packard, Jan Borén   +16 more
wiley   +1 more source

A novel homozygous <i>ARFGEF2</i> splice-site variant causing periventricular nodular heterotopia with microcephaly. [PDF]

Front Pediatr
Liu X, Pang L, Li J, Zhang J, Wu W, Li X, Gong Y, Dou Y, Chen F, Sun S.   +9 more
europepmc   +1 more source

eQTL Meta‐Analysis Reveals Conserved and Population‐Specific Regulatory Variation Underlying Nutritional Trait Evolution and Domestication in Tomato

Advanced Science, Volume 13, Issue 44, 7 August 2026.
A comprehensive meta‐analysis of expression quantitative trait loci (eQTLs) across five diverse tomato populations reveals a high‐resolution atlas of transcriptional regulation and uncovers conserved and population‐specific regulatory architectures underlying fruit nutritional quality traits, including flavonoids, sugars, organic acids, carotenoids ...
Jiantao Zhao, Xin Wang, Jing Zhang, Ryan McQuinn, Je Min Lee, Itay Gonda, Ari Feder, Yimin Xu, Baike Wang, Qinghui Yu, Denise M. Tieman, Sanwen Huang, Harry Klee, James J. Giovannoni, Zhangjun Fei   +14 more
wiley   +1 more source

<i>KRAS</i> Gene Variants rs712 and rs61764370 as Predictive Markers of Breast Cancer Susceptibility in a Bangladeshi Population: A Case-Control Study. [PDF]

Health Sci Rep
Eva TA, Miti MMT, Nisha NZ, Tasnim Z, Saha T, Khan M, Moon NT, Haque MA.   +7 more
europepmc   +1 more source

The Mottling Phenotype in Chickens Shows Genetic Heterogeneity and Is Caused by Mutations at the EDNRB2 Locus

Animal Genetics, Volume 57, Issue 4, August 2026.
ABSTRACT Mottling is a widespread intra‐feather pattern present in many breeds of domestic chickens worldwide and inherited as an autosomal recessive trait. An amino acid substitution Arg332His in the EDNRB2 gene was previously reported as responsible for the mottling phenotype in several Japanese breeds of chickens.
Jingyi Li, Chiara Bortoluzzi, McKaela Hodge, Bertrand Bed'hom, Yifan Guo, Brian Davis, Benjamin Dorshorst, Paul Siegel, David Gourichon, Michèle Tixier‐Boichard, Leif Andersson   +10 more
wiley   +1 more source

Lecanemab and amyloid-related imaging abnormalities: Real-world data from a single center experience. [PDF]

Alzheimers Dement (Amst)
Wallace A, Zhou O, Hoang MN, Porter G, Padilla C, Marshall C.   +5 more
europepmc   +1 more source

Using Machine Learning to Automate the Analysis of an Olfactory Habituation‐Dishabituation Task in Mice

Brain and Behavior, Volume 16, Issue 8, August 2026.
Workflow of DeepLabCut and SimBA pipeline for analysis of olfactory habituation‐dishabituation task in mice. ABSTRACT Introduction Improving the efficiency and accuracy of annotation and extraction of performance data from mouse behavioral tasks will improve both the throughput and scientific value of preclinical research.
S. Boyanova, M. H. Correa, R. S. Bains, F. K. Wiseman   +3 more
wiley   +1 more source

Multiplex CRISPR/Cas9-mediated editing of seven glycosyltransferase homologs in <i>Nicotiana benthamiana</i> to produce stable, Cas9-free, glycoengineered plants. [PDF]

Front Plant Sci
Kaur C, Song H, Lee M, Kim SY, Seo DH, Kang H, Sohn EJ, Ran Y, Koo O, Lee GJ.   +9 more
europepmc   +1 more source

Brain‐Wide Mapping and Synaptic Localization of C1QL3 Using a Novel Epitope‐Tagged Knock‐In Mouse

Journal of Comparative Neurology, Volume 534, Issue 8, August 2026.
C1QL3 is a secreted adhesion molecule that acts as a key regulator of synaptic structure and function. We generated and validated a novel epitope‐tagged knock‐in mouse line (C1ql32HA) in which two hemagglutinin (HA) epitopes were inserted near the N‐terminus of the endogenous C1QL3 protein.
William P. Armstrong IV, James M. Salvatore, Matthew J. Sticco, Keaven Caro, J. Wesley Maddox, Angie Huang, Brenna C. McAllister, Christopher B. O'Connell, Siu‐Pok Yee, Amy Lee, Susanne Ressl, David C. Martinelli, Alexander C. Jackson   +12 more
wiley   +1 more source