Results 121 to 130 of about 7,785,903 (293)
Bioinformatics for Human Genetics: Promises and Challenges
, 2011 International audienceComputers have been used for decades to get practical work done in the field of human genetics for the benefit of patients and the advancement of science.
Peter N. Robinson +5 more
core +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 +5 more
wiley +1 more source
, 2009 The range and demand for clinical genetic services will continue to grow, and now is an ideal time to assess current service quality. Based on the previous work of quality professional organizations such as the Institute of Medicine (IOM) and The Joint ...
Zellerino, BC +4 more
core +1 more source
Translophagy—A potential link between autophagy impairment and translational errors
FEBS Letters, EarlyView.Neurodegenerative diseases are characterised by the accumulation of abnormal proteins and protein aggregates, but their origin often remains unknown. We propose that selective autophagy removes damaged protein‐making machinery, preventing errors during protein synthesis.
Mykola V. Korolchuk +11 more
wiley +1 more source
The Shewanella oneidensis Fic enzyme SoFic targets the switch‐I region of EF‐Tu for AMPylation
FEBS Letters, EarlyView.Fic enzymes mediate diverse post‐translational modifications across all domains of life, including AMPylation. Prokaryotic EF‐Tu can be AMPylated and deAMPylated by the conserved Fic enzyme SoFic. Structural and biochemical approaches were used to characterize the effect of AMPylation on EF‐Tu, SoFic's enzymatic activities, and the enzyme‐target ...
Svenja Runge +6 more
wiley +1 more source
FEBS Letters, EarlyView.Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise +5 more
wiley +1 more source
Recontacting in clinical genetics
As clinical genetics advances, genetic information accumulates, and this makes recontacting more important. Recontacting entails that health care professionals make new contact with former patients, or vice versa, to discuss new genetic information. This
Judith Verhagen, Abduallah Jabori
core +1 more source
Perspective of clinical genetics.
Journal of Nippon Medical School, 1999 Watanabe, Atushi +3 more
openaire +3 more sources
Leucine‐rich glioma inactivated 1 (LGI1) is a ganglioside‐binding protein
FEBS Letters, EarlyView.Neuronal hyperexcitability associated with a decrease/absence of the extracellular protein LGI1 has been suggested to be primarily due to the downregulation of Kv1 channel expression. The molecular mechanisms underlying this decrease have not yet been elucidated.
Kévin Debreux +7 more
wiley +1 more source
, 2011 Clinical geneticists are medical doctors that combine general knowledge of medicine with specific expertise in genetics, genetic diagnosis, and genetic aspects of disease.
Van Tintelen, Peter J. +5 more
core