Results 51 to 60 of about 884,084 (316)

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

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, Robinson, PN, Lindblom, Annika Elisabeth, Lindblom, A,, Annika Lindblom, Robinson, Peter, N.   +5 more
core   +1 more source

Genetics of Obesity in Humans [PDF]

Endocrine Reviews, 2006
Considerable attention has focused on deciphering the hypothalamic pathways that mediate the behavioral and metabolic effects of leptin. We and others have identified several single gene defects that disrupt the molecules in the leptin-melanocortin pathway causing severe obesity in humans.
Sadaf, Farooqi, Stephen, O'Rahilly
openaire   +2 more sources

Reciprocal control of viral infection and phosphoinositide dynamics

FEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders

Genome Medicine
Background A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants ...
Mathilde Geysens, Benjamin Huremagic, Erika Souche, Jeroen Breckpot, Koenraad Devriendt, Hilde Peeters, Griet Van Buggenhout, Hilde Van Esch, Kris Van Den Bogaert, Joris Robert Vermeesch   +9 more
doaj   +1 more source

Conflation of Short Identity-by-Descent Segments Bias Their Inferred Length Distribution

G3: Genes, Genomes, Genetics, 2016
Identity-by-descent (IBD) is a fundamental concept in genetics with many applications. In a common definition, two haplotypes are said to share an IBD segment if that segment is inherited from a recent shared common ancestor without intervening ...
Charleston W. K. Chiang, Peter Ralph, John Novembre   +2 more
doaj   +1 more source

GoM DE: interpreting structure in sequence count data with differential expression analysis allowing for grades of membership

Genome Biology, 2023
Parts-based representations, such as non-negative matrix factorization and topic modeling, have been used to identify structure from single-cell sequencing data sets, in particular structure that is not as well captured by clustering or other ...
Peter Carbonetto, Kaixuan Luo, Abhishek Sarkar, Anthony Hung, Karl Tayeb, Sebastian Pott, Matthew Stephens   +6 more
doaj   +1 more source

Spatiotemporal and quantitative analyses of phosphoinositides – fluorescent probe—and mass spectrometry‐based approaches

FEBS Letters, EarlyView.
Fluorescent probes allow dynamic visualization of phosphoinositides in living cells (left), whereas mass spectrometry provides high‐sensitivity, isomer‐resolved quantitation (right). Their synergistic use captures complementary aspects of lipid signaling. This review illustrates how these approaches reveal the spatiotemporal regulation and quantitative
Hiroaki Kajiho, Shin Morioka, Junko Sasaki, Takehiko Sasaki   +3 more
wiley   +1 more source

Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?

FEBS Letters, EarlyView.
This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes, Guilherme M. Azevedo, Amanda P. Barcellos, Diana Bahia   +3 more
wiley   +1 more source

Genetics in clinical practice: general practitioners' educational priorities in European countries

, 2008
PURPOSE: To assess how general practitioners (GPs) from European countries prioritized their genetic educational needs according to their geographic, sociodemographic, and educational characteristics.
Schmidtke, Joerg, Kate, L. ten, Ulf Kristoffersson, Harris, H.J., Plass, A.M., Anne-Marie Plass, Kirsty Challen, Julian-Reynier, Claire, Calefato, Jean-Marc, Ten Kate, Leo, Kristoffersson, U., Harris, Rodney, ten Kate, L.P., Plass, Anne-Marie, Benjamin, Caroline, Anionwu, E., Calefato, J.M., Irma Nippert, Caroline Benjamin, Leo Ten Kate, Schmidtke, J., Challen, K., Anionwu, Elizabeth, Claire Julian-Reynier, Harris, R, Julian-Reynier, C., Joerg Schmidtke, Rodney Harris, Harris, R., Plass, A.M.C., Benjamin, C.M., Jean-Marc Calefato, Nippert, Irma, Nippert, I., Challen, Kirsty, Hilary Harris, Benjamin, C., Harris, Hilary, Kristoffersson, Ulf, Lund University., Elizabeth Anionwu, Kristoffersson, Ulf,   +41 more
core   +1 more source