The role and implications of mammalian cellular circadian entrainment
FEBS Letters, EarlyView.At their most fundamental level, mammalian circadian rhythms occur inside every individual cell. To tell the correct time, cells must align (or ‘entrain’) their circadian rhythm to the external environment. In this review, we highlight how cells entrain to the major circadian cues of light, feeding and temperature, and the implications this has for our
Priya Crosby
wiley +1 more source
Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis [PDF]
Endocrinology and MetabolismBackground Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in multiple endocrine organs, caused by variants in the MEN1 gene.
Boram Kim +13 more
doaj +1 more source
The functional genomics laboratory: functional validation of genetic variants
Journal of Inherited Metabolic Disease, 2018 Currently, one of the main challenges in human molecular genetics is the interpretation of rare genetic variants of unknown clinical significance. A conclusive diagnosis is of importance for the patient to obtain certainty about the cause of the disease,
R. Rodenburg
semanticscholar +1 more source
FEBS Letters, EarlyView.PARP‐1 is a key enzyme in the DNA damage response, and its inhibition induces cancer cell death via synthetic lethality. Au(I)‐based drugs, such as aurothioglucose and sodium aurothiomalate, block PARP‐1's DNA‐dependent activity by targeting its zinc finger domains.
Uliana Bashtanova, Melinda Jane Duer
wiley +1 more source
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.
PLoS ONE, 2018 Genetic heterogeneity of common genetic generalized epilepsy syndromes is frequently considered. The present study conducted a focused analysis of potential candidate or susceptibility genes for common genetic generalized epilepsy syndromes using multi ...
Cha Gon Lee, Jeehun Lee, Munhyang Lee
doaj +1 more source
Bitter, Sweet, Salty, Sour and Umami Taste Perception Decreases with Age: Sex-Specific Analysis, Modulation by Genetic Variants and Taste-Preference Associations in 18 to 80 Year-Old Subjects [PDF]
, 2018 Rocío Barragán +10 more
openalex +1 more source
Genome Medicine, 2018 BackgroundHumoral immune responses to infectious agents or vaccination vary substantially among individuals, and many of the factors responsible for this variability remain to be defined. Current evidence suggests that human genetic variation influences (
P. Scepanovic +13 more
semanticscholar +1 more source
Genetic Variants And Atherosclerosis
, 2009 {"references": ["Maton, Anthea, Roshan L,et al. Human Biology and Health. Englewood\nCliffs, New Jersey, USA: Prentice Hall. (1993); ISBN 0-13-981176-1.\nOCLC 32308337", "Ridker PM. Inflammation, atherosclerosis, and cardiovascular risk: an\nepidemiologic view. Blood Coagul Fibrinolysis.
M. Seifi +7 more
openaire +1 more source
Peptide‐based ligand antagonists block a Vibrio cholerae adhesin
FEBS Letters, EarlyView.The structure of a peptide‐binding domain of the Vibrio cholerae adhesin FrhA was solved by X‐ray crystallography, revealing how the inhibitory peptide AGYTD binds tightly at its Ca2+‐coordinated pocket. Structure‐guided design incorporating D‐amino acids enhanced binding affinity, providing a foundation for developing anti‐adhesion therapeutics ...
Mingyu Wang +9 more
wiley +1 more source
Lack of Association of CD55 Receptor Genetic Variants and Severe Malaria in Ghanaian Children
G3: Genes, Genomes, Genetics, 2017 In a recent report, the cellular receptor CD55 was identified as a molecule essential for the invasion of human erythrocytes by Plasmodium falciparum, the causal agent of the most severe form of malaria.
Kathrin Schuldt +11 more
doaj +1 more source