Results 141 to 150 of about 5,198,783 (315)

GENETIC LANDSCAPE OF PHENYLKETONURIA IN SERBIA

Phenylketonuria (PKU) is the most frequent inborn disorder of amino acid metabolism caused by variants in human phenylalanine hydroxylase gene (PAH). In this study, a total of 109 PKU patients from Serbia were included, who were classified into three ...
Klaassen, Kristel, Spasovski, Vesna, Skakić, Anita, Pavlović, Sonja, Stojiljković, Maja, Stanković, Sara, Đorđević Milošević, Maja, Jocić, Nikola, Anđelković, Marina, Ugrin, Milena, Parezanović, Marina, Stevanović, Nina, Komazec, Jovana, Kecman, Božica   +13 more
core   +1 more source

Autophagy and mitophagy in pancreatic β‐cell homeostasis and their involvement in diabetes pathophysiology

FEBS Letters, EarlyView.
This review focuses on the role of autophagy and mitophagy in maintaining pancreatic β‐cell function and homeostasis. We discuss how genetic defects affecting these pathways contribute to the development of type 1, type 2, monogenic, and gestational diabetes. We further explore their potential as therapeutic targets. Created in BioRender.
Yunkyeong Lee, Mingming Tong, Anna L. Gloyn   +2 more
wiley   +1 more source

Golgi enzymes are retrieved from the plasma membrane to the trans‐Golgi network

FEBS Letters, EarlyView.
Golgi enzymes are traditionally considered resident proteins retained within the Golgi apparatus. Here, we demonstrate that a subset transiently reaches the cell surface and is subsequently retrieved to the trans‐Golgi network via retrograde transport. Using a nanobody‐based toolkit, we uncover a dynamic trafficking cycle of several Golgi enzymes.
Dominik P. Buser, Tina Junne
wiley   +1 more source

Genetic Library: Cancer Genetics [PDF]

Journal of Genetic Counseling, 2002
openaire   +2 more sources

Understanding Barriers and Motivators of Familial Hypercholesterolemia Genetic Testing: Insights From the Singapore Public. [PDF]

J Genet Couns
Quek DSR, Yin R, Chan FHF, Nastar A, Ngeow J, Pek S, Savulescu J, Subramaniam T, Griva K.   +8 more
europepmc   +1 more source

Frequency of genetic risk factors for thrombophilia and Gilbert syndrome in the population of Republic of Srpska, Bosnia and Hercegovina

, 2019
Variants in several genes (factor V-FV, prothrombin-PT and methylenetetrahydrofolate reductase-MTHFR), such as FVL c.1691 G>A (Leiden), PT c.20210 G>A and MTHFR c.677 C>T, have significant role in thrombophilia.
Zukić, Branka, Gašić, Vladimir, Vuković, Marija, Kotur, Nikola, Pavlović, Sonja   +4 more
core  

Partial depletion of plasminogen activator inhibitor‐1 decreases subcutaneous fat cell hypertrophy and liver cholesterol in high‐fat‐fed female mice

FEBS Letters, EarlyView.
Obesity raises blood levels of PAI‐1, a protein linked to metabolic dysfunction‐associated steatotic liver disease in people with obesity. In female mice fed a high‐fat diet, partially lowering PAI‐1 led to smaller subcutaneous fat cells and lower liver cholesterol, without changing body weight or insulin sensitivity.
Claudia E. Ramirez Bustamante, Robert Sharp, Pradip K. Saha, Elizabeth S. Anaya, Elizabeth L. Lieu, Evelyn L. de Groot, Pooja Patel, Mi Jeong Heo, Aaron R. Cox, Kang Ho Kim, Sean M. Hartig   +10 more
wiley   +1 more source

Are we Prepared? Genetic Counseling for Stillbirth in the Sequencing Era. [PDF]

J Genet Couns
Marin H, Florido M, Bertolini C, Schulist O, Bejarano S, Ahimaz P, Giordano J, Demers A.   +7 more
europepmc   +1 more source

Ligand‐dependent transcriptional heterogeneity in cell cycle gene expression delays G1/S entry

FEBS Letters, EarlyView.
EGF and HRG induce distinct G1/S progression programs in ErbB2‐amplified BT474 breast cancer cells. Despite activating the potent ErbB2–ErbB3 heterodimer, HRG does not accelerate cell‐cycle entry. Instead, EGF promotes earlier restriction‐point passage via ERK–FOS signaling, whereas HRG activates the AKT–MYC axis, driving transcriptional heterogeneity ...
Ririn Rahmala Febri, Ayaka Nagasato‐Ichikawa, Keita Iida, Shuhei Kimura, Akira Imamoto, Mariko Okada   +5 more
wiley   +1 more source

Genetic Diversity Analysis of Red Fox Populations (Vulpes vulpes L., 1758) in Natural and Anthropogenic Isolation. [PDF]

Anim Genet
Hrebianchuk AE, Lukashkova VM, Parfionava NS, Ogden R, Tsybovsky IS.   +4 more
europepmc   +1 more source