Results 31 to 40 of about 4,822,162 (317)

SLC38A6 expression in macrophages exacerbates pulmonary inflammation

Respiratory Research, 2023
Pulmonary inflammation involves complex changes of the immune cells, in which macrophages play important roles and their function might be influenced by metabolism. Slc38a6 acts as a carrier of nutrient for macrophages (Mφ) to exert the function. In this
Yizhao Peng, Weichao Chen, Fumeng Huang, Manman Geng, Xiaowei Li, Fujun Zhang, Wenhua Zhu, Liesu Meng, Rikard Holmdahl, Jing Xu, Shemin Lu   +10 more
doaj   +1 more source

Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology

Cells, 2023
Worldwide, around 40,000 people progressively lose their eyesight as a consequence of retinitis pigmentosa (RP) caused by pathogenic variants in the ADGRV1 gene, for which currently no treatment options exist.
Merel Stemerdink, Sanne Broekman, Theo Peters, Hannie Kremer, Erik de Vrieze, Erwin van Wijk   +5 more
doaj   +1 more source

Gene–Gene and Gene–Environment Interactions in Apolipoprotein L1 Gene-Associated Nephropathy [PDF]

Clinical Journal of the American Society of Nephrology, 2014
Molecular genetics have revolutionized the understanding of susceptibility to the broad spectrum of kidney diseases with light microscopic appearance of FSGS, particularly in populations with recent African ancestry. These disorders include idiopathic FSGS, HIV-associated nephropathy, severe lupus nephritis, sickle cell nephropathy, and the primary ...
Barry I, Freedman, Karl, Skorecki
openaire   +2 more sources

Omnibus testing approach for gene‐based gene‐gene interaction

Statistics in Medicine, 2022
AbstractGenetic interaction is considered as one of the main heritable component of complex traits. With the emergence of genome‐wide association studies (GWAS), a collection of statistical methods dedicated to the identification of interaction at the SNP level have been proposed.
Hébert, Florian, Causeur, David, Emily, Mathieu   +2 more
openaire   +4 more sources

Solid Pseudopapillary Neoplasm of the Pancreas in Children and Adolescents: Expert Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Solid pseudopapillary neoplasm of the pancreas (SPN) is a rare low‐grade malignant exocrine pancreatic tumor, mostly discovered during the second decade of life in females, with a very good prognosis, provided microscopically complete surgical excision is achieved.
Sabine Irtan, Michael Abele, Calogero Virgone, Michaela Kuhlen, Ricardo Lopez‐Almarez, Tal Ben‐Ami, Ewa Bien, Maja Cesen, Malgorzata A. Krawczyk, Andrea Ferrari, Gianni Bisogno, Yves Reguerre, Dominik T. Schneider, Louise Galmiche, Jorg Fuchs, Sarah Braungart, Bilgehan Yalcin, Ines B. Brecht, Daniel Orbach   +18 more
wiley   +1 more source

Ovarian Sex Cord Stromal Tumors in Children and Adolescents—The European Standard Clinical Practice Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.
Dominik T. Schneider, Kris‐Ann Schultz, Nora Schnitzler, Michael Abele, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Ines B. Brecht, Maja Cesen, Andrea Ferrari, Michaela Kuhlen, Malgorzata A. Krawczyk, Ricardo Lopez‐Almaraz, Yves Reguerre, Calogero Virgone, Daniel Orbach   +15 more
wiley   +1 more source

Acute Neurological Events in Children With Hemoglobin SC Disease: A Multicenter Retrospective Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Neurological manifestations in children with hemoglobin SC (HbSC) disease remain insufficiently characterized, particularly regarding acute events. The aim of this study was to describe the spectrum and frequency of acute neurological events in a multicenter cohort of children with HbSC disease.
Célia Paulmin, Bérengère Koehl, Audrey Maudoux, Hanine Mansour, Marie‐Hélène Odievre, Nathalie Garrec, Emilie Georget, Cécile Arnaud, Slimane Allali, Lydia Doumdo, Marie Belloy, Corinne Guitton   +11 more
wiley   +1 more source

Bayesian mixture modeling of gene‐environment and gene‐gene interactions [PDF]

Genetic Epidemiology, 2009
AbstractWith the advent of rapid and relatively cheap genotyping technologies there is now the opportunity to attempt to identify gene‐environment and gene‐gene interactions when the number of genes and environmental factors is potentially large. Unfortunately the dimensionality of the parameter space leads to a computational explosion in the number of
Wakefield, Jon, De Vocht, Frank, Hung, Rayjean J.   +2 more
openaire   +5 more sources

Why are essential genes essential? - The essentiality of Saccharomyces genes [PDF]

, 2015
Essential genes are defined as required for the survival of an organism or a cell. They are of particular interests, not only for their essential biological functions, but also in practical applications, such as identifying effective drug targets to ...
Zhaojie Zhang, Qun Ren
core   +1 more source

Investigación de dos casos complejos de relación biológica

Iatreia, 2010
Presentamos dos casos complejos de investigación de la relación biológica con un diagnóstico conclusivo. El primero corresponde al caso de una menor sin madre, con presunto padre fallecido y como referencias solo se disponía de la presunta abuela paterna
Diana de Aguirre, Juan José Builes Gómez, Andrea de Manrique, Yesith de Puerto Parra, Leonor de Gusmão, M. L. Bravo   +5 more
doaj