Results 101 to 110 of about 3,006,865 (307)

Molecular genetics of human lactase deficiencies

Annals of Medicine, 2009
Lactase non-persistence (adult-type hypolactasia) is present in more than half of the human population and is caused by the down-regulation of lactase enzyme activity during childhood. Congenital lactase deficiency (CLD) is a rare severe gastrointestinal disorder of new-borns enriched in the Finnish population.
Irma, Järvelä, Suvi, Torniainen, Kaija-Leena, Kolho   +2 more
openaire   +2 more sources

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Folate levels modulate oncogene‐induced replication stress and tumorigenicity

EMBO Molecular Medicine, 2015
Chromosomal instability in early cancer stages is caused by replication stress. One mechanism by which oncogene expression induces replication stress is to drive cell proliferation with insufficient nucleotide levels.
Noa Lamm, Karin Maoz, Assaf C Bester, Michael M Im, Donna S Shewach, Rotem Karni, Batsheva Kerem   +6 more
doaj   +1 more source

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism

International Journal of Neonatal Screening
In this study, we evaluated the implementation of a second-tier genetic screening test using an amplicon-based next-generation sequencing (NGS) panel in our laboratory during the period of 1 September 2021 to 31 August 2022 for the newborn screening (NBS)
Toby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung, Eric Chun-Yiu Law, Jana Cheung, Tsz Ki Wong, Vincent Wing-Sang Cheng, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, Cheuk Wing Fung, Kiran Moti Belaramani, Anne Mei Kwun Kwok, Kwok Yeung Tsang   +12 more
doaj   +1 more source

Genetics of ısolated growth hormone deficiency

Journal of Clinical Research in Pediatric Endocrinology, 2010
When a child is not following the normal, predicted growth curve, an evaluation for underlying illnesses and central nervous system abnormalities is required, and appropriate consideration should be given to genetic defects causing growth hormone (GH) deficiency (GHD). Because Insulin-like Growth Factor-I (IGF-I) plays a pivotal role, GHD could also be
openaire   +3 more sources

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

Organizing the interface—Plasma membrane architecture and receptor dynamics in virus‐cell interactions

FEBS Letters, EarlyView.
Plasma membranes contain dynamic nanoscale domains that organize lipids and receptors. Because viruses operate at similar scales, this architecture shapes early infection steps, including attachment, receptor engagement, and entry. Using influenza A virus and HIV‐1 as examples, we highlight how receptor nanoclusters, multivalent glycan interactions ...
Jan Schlegel, Christian Sieben
wiley   +1 more source

No association between genetic hemochromatosis and alpha-1 antitrypsin deficiency

, 1996
Genetic hemochromatosis and alpha 1-antitrypsin (AAT) deficiency are frequent in white populations, Conflicting data on the association of the two conditions and on the severity of the disease in those in whom these disorders coexist have emerged from ...
A.L. Fracanzani, M. Sampietro, A. Piperno, F. Bissoli, C. Sergi, R. Ceriani, S.R. Fargion, E. Taioli, V. Dimasi, E. Suigo, G. Fiorelli   +10 more
core   +1 more source

Degradation mechanism of the von Willebrand factor A2 domain by nattokinase

FEBS Letters, EarlyView.
Nattokinase, a natto‐derived protease, exhibits potent antithrombotic effects. This study demonstrates that nattokinase directly cleaves the von Willebrand factor (vWF) A2 domain in vitro. Unlike the native regulator ADAMTS13, nattokinase degrades folded vWF independently of shear stress.
Ryuichi Hyakumoto, Masatomo So, Ayako Furukawa, Kenji Sugase   +3 more
wiley   +1 more source