Results 31 to 40 of about 1,637,825 (269)

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

Kidney International Reports, 2020
Introduction: Autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD).
Kendrah Kidd, Petr Vylet’al, Céline Schaeffer, Eric Olinger, Martina Živná, Kateřina Hodaňová, Victoria Robins, Emily Johnson, Abbigail Taylor, Lauren Martin, Claudia Izzi, Sofia C. Jorge, Joaquim Calado, Rosa J. Torres, Karl Lhotta, Dominik Steubl, Daniel P. Gale, Christine Gast, Eva Gombos, Hannah C. Ainsworth, Ying Maggie Chen, Jorge Reis Almeida, Cintia Fernandes de Souza, Catarina Silveira, Rita Raposeiro, Nelson Weller, Peter J. Conlon, Susan L. Murray, Katherine A. Benson, Gianpiero L. Cavalleri, Miroslav Votruba, Alena Vrbacká, Antonio Amoroso, Daniela Gianchino, Gianluca Caridi, Gian Marco Ghiggeri, Jasmin Divers, Francesco Scolari, Olivier Devuyst, Luca Rampoldi, Stanislav Kmoch, Anthony J. Bleyer   +41 more
doaj   +1 more source

Detection of the Strains Induced in Murine Tibias by Ex Vivo Uniaxial Loading with Different Sensors

Sensors, 2019
In this paper, the characterization of the main techniques and transducers employed to measure local and global strains induced by uniaxial loading of murine tibiae is presented.
Emanuele Rizzuto, Barbara Peruzzi, Mariagrazia Giudice, Enrica Urciuoli, Erika Pittella, Emanuele Piuzzi, Antonio Musarò, Zaccaria Del Prete   +7 more
doaj   +1 more source

Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?

Frontiers in Genetics, 2017
Several factors have been proposed as contributors to interfamilial and intrafamilial phenotypic variability in autosomal dominant disorders, including allelic variation, modifier genes, environmental factors and complex genetic and environmental ...
Baoheng Gui, Baoheng Gui, Jesse Slone, Taosheng Huang   +3 more
doaj   +1 more source

Arrhythmogenic Ventricular Cardiomyopathy

JACC: Case Reports, 2021
After a 20-year-old woman suddenly died, autopsy showed characteristic findings of biventricular arrhythmogenic cardiomyopathy. Screening of her family members revealed the same desmoplakin gene mutation and imaging abnormalities predominantly involving ...
Aranyak S. Rawal, MD, Tara VanCleave, BS, Neeraja Yedlapati, MD, Jeffery E. Saffitz, MD, PhD, William James Craigen, MD, PhD, John L. Jefferies, MD, MPH   +5 more
doaj   +1 more source

The phenotype of loneliness [PDF]

European Journal of Developmental Psychology, 2012
Goossens' (in press) review nicely maps the progression of scientific research from its early focus on loneliness as a dysphoric state that results from the discrepancy between a person's ideal and actual social relationships to its current emphasis on the centrality of loneliness to our very nature as a social species, and he argues that developmental
Cacioppo John T., Cacioppo Stephanie
openaire   +3 more sources

Phenotype and Function of Activated Natural Killer Cells From Patients With Prostate Cancer: Patient-Dependent Responses to Priming and IL-2 Activation

Frontiers in Immunology, 2019
Background: Although immunotherapy has emerged as the “next generation” of cancer treatments, it has not yet been shown to be successful in the treatment of patients with prostate cancer, for whom therapeutic options remain limited to radiotherapy and ...
Simon P. Hood, Gemma A. Foulds, Heather Imrie, Stephen Reeder, Stéphanie E. B. McArdle, Masood Khan, Alan Graham Pockley   +6 more
doaj   +1 more source

DEL phenotype [PDF]

Immunohematology, 2017
Abstract DEL red blood cells (RBCs) type as D– by routine serologic methods and are transfused routinely, without being identified as expressing a very weak D antigen, to D– recipients. DEL RBCs are detected only by adsorption and elution of anti-D or by molecular methods. Most DEL phenotypes have been reported in
Dong H, Kwon, S G, Sandler, Willy A, Flegel   +2 more
openaire   +2 more sources

Clinical PET Imaging of Microglial Activation: Implications for Microglial Therapeutics in Alzheimer’s Disease

Frontiers in Aging Neuroscience, 2018
In addition to extracellular β-amyloid plaques and intracellular neurofibrillary tangles, neuroinflammation has been identified as a key pathological characteristic of Alzheimer’s disease (AD).
Zhiwei Shen, Xinjie Bao, Renzhi Wang
doaj   +1 more source

CYP450 Genotype—Phenotype Concordance Using the Geneva Micrococktail in a Clinical Setting

Frontiers in Pharmacology, 2021
Pharmacokinetic variability is a major source of differences in drug response and can be due to genetic variants and/or drug-drug interactions. Cytochromes P450 are among the most studied enzymes from a pharmacokinetic point of view.
Kuntheavy Ing Lorenzini, Jules Desmeules, Victoria Rollason, Stéphane Bertin, Marie Besson, Youssef Daali, Caroline F. Samer   +6 more
doaj   +1 more source

Emapalumab for Immune Effector Cell‐Associated Hemophagocytic Lymphohistiocytosis‐Like Syndrome Following CD19‐Directed CAR‐T in Two Patients With B‐ALL: Clinical and Biomarker Correlates

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Immune effector cell‐associated hemophagocytic lymphohistiocytosis‐like syndrome (IEC‐HS) is a life‐threatening hyperinflammatory toxicity distinct from cytokine release syndrome (CRS) and neurotoxicity following chimeric antigen receptor T‐cell (CAR‐T) therapy. In a single‐institution retrospective cohort of pediatric and young adult patients
Thomas J. Galletta, Jeremy D. Rubinstein, Christopher E. Dandoy, Ruby Khoury, Angela Faulhaber, Christine L. Phillips, Christa Krupski   +6 more
wiley   +1 more source