Results 71 to 80 of about 3,396,540 (313)

Liver organoids: modelling complexity in homeostasis and disease

FEBS Letters, EarlyView.
Studying liver in vitro has been challenging because simple 2D cell cultures fail to capture liver's cellular and architectural complexity. To bridge this gap, scientists increasingly use organoids, 3D liver models which better mimic liver composition and function. This review examines recent advances in liver organoid complexity and realism, discusses
Anna M. Dowbaj, Meritxell Huch
wiley   +1 more source

The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China

Orphanet Journal of Rare Diseases
Background The global incidence of Hyperphenylalaninemia (HPA) demonstrates significant geographical variations, exhibiting distinct regional and ethnic characteristics in both phenotypic manifestations and genotypic profiles.
Qiong Wang, Jiang Duan, Xiaolong Zhao, Zhiye Qi   +3 more
doaj   +1 more source

Diagnostic Yield of Newborn Screening for Biliary Atresia Using Direct or Conjugated Bilirubin Measurements.

Journal of the American Medical Association (JAMA), 2020
Importance Treating biliary atresia in newborns earlier can delay or prevent the need for liver transplant; however, treatment typically occurs later because biliary atresia is difficult to detect during its early stages.
S. Harpavat, Joseph A Garcia-Prats, C. Anaya, M. Brandt, P. Lupo, M. Finegold, A. Obuobi, A. Elhennawy, W. S. Jarriel, B. Shneider   +9 more
semanticscholar   +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

Newborn Hearing Screening Benefits Children, But Global Disparities Persist

Journal of Clinical Medicine, 2022
There is substantial evidence that newborn hearing screening (NHS) reduces the negative sequelae of permanent childhood hearing loss (PCHL) if performed in programs that aim to screen all newborns in a region or nation (often referred to as Universal ...
K. Neumann, Philipp Mathmann, S. Chadha, H. Euler, K. White   +4 more
semanticscholar   +1 more source

From energy provision to protein synthesis: Tunnelling nanotubes as mediators of intercellular metabolic cooperation in cancer

FEBS Open Bio, EarlyView.
The cytoskeleton‐mediated transport of mitochondria via tunnelling nanotubes restores respiration, increases ATP production, rescues cells from apoptosis, activates the AKT/mTOR signalling pathway, promotes cell migration and invasiveness, contributes to cancer progression and treatment resistance.
Stanislava Martínková, Jan Trnka
wiley   +1 more source

Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: early experience in New England

, 2012
To fulfill the purpose of newborn screening, comprehensive newborn screening programs must ensure that infants and children with newborn screening conditions are not only diagnosed but also they maintain engagement in appropriate lifespan and family ...
Sahai, Inderneel, Hale, Jaime E, Comeau, Anne Marie, Mulcahy, Eleanor A., Eaton, Roger B.   +4 more
core   +1 more source

A Simple Method to Overcome the “Floating Disc Problem” Using the GALT-Assay on the PerkinElmer GSP—Remeasurement on a Stand Alone Plate Fluorimeter

International Journal of Neonatal Screening, 2016
The Perkin Elmer Genetic Screening Processor (GSP)™ is a fully automated system for the processing of immunoassays for thyroid stimulating hormone (TSH), 17-hydroxyprogesterone (17-OHP), immuno reactive trypsin (IRT), biotinidase, and total T4, as well ...
Ralph Fingerhut, Susanna H. M. Sluka
doaj   +1 more source

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.

American Journal of Human Genetics, 2020
Newborn screening (NBS) was established as a public health program in the 1960s and is crucial for facilitating detection of certain medical conditions in which early intervention can prevent serious, life-threatening health problems.
Tamara S. Roman, Stephanie B. Crowley, M. Roche, A. K. Foreman, Julianne M. O'Daniel, Bryce A. Seifert, Kristy Lee, A. Brandt, Chelsea Gustafson, Daniela M. DeCristo, Natasha T. Strande, L. Ramkissoon, L. Milko, Phillips Owen, Sayanty Roy, M. Xiong, Ryan S. Paquin, Rita M. Butterfield, Megan A. Lewis, Katherine J Souris, D. Bailey, C. Rini, J. Booker, B. Powell, K. Weck, C. Powell, J. Berg   +26 more
semanticscholar   +1 more source

Exploring the influence of lactoferrin on wound healing and related signaling pathways: a systematic review

FEBS Open Bio, EarlyView.
Lactoferrin promotes wound healing by activating MAPK, PI3K/Akt, and extracellular matrix pathways, enhancing fibroblast remodeling, proliferation, and re‐epithelialization. These mechanisms highlight its therapeutic potential in inflammation control, tissue repair, and remodeling.
Morgana Lüdtke Azevedo, Kátia Cristiane Hall, Matheus dos Santos Fernandez, Geovanna Peter Corrêa, Rafael Guerra Lund   +4 more
wiley   +1 more source