Results 31 to 40 of about 5,063,966 (287)

Hans & Anna Andersen Family Reunion

, 2002
Photograph of a group of adult men and women standing before an auditorium with closed curtains. From left to right, they have been identified as Kenneth Mads Andersen, Karyl Andersen, Loraine A. McCarty, John McCarty, Doris A. Gray, Harry Hall, Virginia

core   +2 more sources

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Whether New Cooperative Mmedical Schemes reduce the economic burden of chronic disease in rural China. [PDF]

PLoS ONE, 2013
BACKGROUND: The New Cooperative Medical Scheme (NCMS) provides health insurance coverage for rural populations in China. This study aimed to evaluate changes in household catastrophic health expenditure (CHE) due to chronic disease before and after the ...
Shanshan Jing, Aitian Yin, Lizheng Shi, Jinan Liu   +3 more
doaj   +1 more source

Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome

Frontiers in Genetics, 2021
Andersen-Tawil Syndrome (ATS) is a rare disease defined by the association of cardiac arrhythmias, periodic paralysis and dysmorphic features, and is caused by KCNJ2 loss-of-function mutations.
Pauline Le Tanno, Mathilde Folacci, Jean Revilloud, Laurence Faivre, Gabriel Laurent, Lucile Pinson, Lucile Pinson, Lucile Pinson, Pascal Amedro, Gilles Millat, Alexandre Janin, Michel Vivaudou, Nathalie Roux-Buisson, Julien Fauré   +13 more
doaj   +1 more source

Über die Bindungsstelle hinausgedacht: Ein sich selbsteinkapselnder Kinase‐Inhibitor modelliert seine Bindetasche und erzielt so Selektivität

Angewandte Chemie, EarlyView.
Um außergewöhnlich wirksame Wirkstoffe zu entwickeln, ist es erforderlich, über die Bindungsstelle hinaus zu denken. Diese Arbeit zeigt, dass die auf den ersten Blick kontraintuitive Adressierung einer konservierten Region der Kinase zu einer hochselektiven Bindung führen kann.
Nico J. Seidler, Monica R. MacDonald, Athina A. Moschopoulou, Sahba Cunningham, Tess M. Weber, Nader N. Nasief, Lorenz Mayer, Frederik W. Hacker, Ekaterina Hermann, Mareike B. Möllers, Yuliia Skliarenko, Tahereh Damghani, Abid N. Manzar, Kaly S. Lin, Ramona Rudalska, Marcia I. Goettert, Lars Zender, Daniel Dauch, Michael Forster, Stefan A. Laufer, David E. Heppner   +20 more
wiley   +1 more source

Descriptive, comparative, and functional anatomy of the facial musculature in cattle (Bos taurus)

The Anatomical Record, EarlyView.
Abstract Facial expressions can provide insight into animal emotions and pain, but no standardized system for assessing the entire facial display in cattle (Bos taurus Linnaeus) exists. The Facial Action Coding System (FACS), originally developed for humans, identifies distinct facial movements based on mimetic muscles.
Maja Söderlind, Bridget Cain, Katrina Ask, Jean‐Francois Valarcher, Elin Hernlund, Pia Haubro Andersen, Marie Rhodin   +6 more
wiley   +1 more source

Quantitative muscle architecture in large carnivorous marsupials (Marsupialia: Dasyuridae) and links to substrate use and prey processing

The Anatomical Record, EarlyView.
Abstract The Dasyurid species Sarcophilus harrisii, Dasyurus maculatus, and Dasyurus viverrinus, occupying diverse ecological niches and forming a guild structure in Tasmania, provide a basis for examining the roles of various forelimb muscle groups in prey capture and locomotion.
Riya G. Bidaye, Samuel H. Frenkel, David P. Hocking, Alistair R. Evans, Justin W. Adams   +4 more
wiley   +1 more source

Caesarean Delivery and Risk of Chronic Inflammatory Diseases (Inflammatory Bowel Disease, Rheumatoid Arthritis, Coeliac Disease, and Diabetes Mellitus): A Population Based Registry Study of 2,699,479 Births in Denmark During 1973–2016

Clinical Epidemiology, 2020
Vibeke Andersen, 1–3 Sören Möller, 4 Peter Bjødstrup Jensen, 4 Frederik Trier Møller, 5, 6 Anders Green 4 1Focused Research Unit for Molecular Diagnostic and Clinical Research (MOK), Hospital of Southern Jutland, Å ...
Andersen V, Möller S, Jensen PB, Møller FT, Green A   +4 more
doaj  

Pharmacokinetic profiling of imatinib in relation to CYP3A4 activity in leukaemia patients

British Journal of Clinical Pharmacology, EarlyView.
Aim Imatinib pharmacokinetics exhibit large interindividual variability because of differences in CYP3A4 activity—the main imatinib‐metabolizing enzyme. While therapeutic drug monitoring is effective, it requires steady‐state conditions and frequent sampling.
Anna Sofie Buhl Rasmussen, Mathilde Rønne Koch, Cecilie Utke Rank, Christen Lykkegaard Andersen, Allan Weimann, Maria Thastrup, Tianwu Yang, Trine Meldgaard Lund, Ib Jarle Christensen, Flemming Nielsen, Tore Bjerregaard Stage, Sara Bisgaard Jensen, Mette Klarskov Andersen, Kjeld Schmiegelow, Kim Dalhoff   +14 more
wiley   +1 more source