Results 71 to 80 of about 114,605 (302)

Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs

Frontiers in Cardiovascular Medicine
Females with Fabry disease (FD) often have a milder phenotype, later symptom onset, and slower disease progression than males, causing delayed diagnosis and undertreatment.
Antonino Tuttolomondo, Cristina Chimenti, Vittoria Cianci, Maurizio Gallieni, Chiara Lanzillo, Antonella La Russa, Giuseppe Limongelli, Renzo Mignani, Renzo Mignani, Iacopo Olivotto, Federico Pieruzzi, Federico Pieruzzi, Antonio Pisani   +12 more
doaj   +1 more source

Reprogramming human T cell function and specificity with non-viral genome targeting. [PDF]

, 2018
Decades of work have aimed to genetically reprogram T cells for therapeutic purposes1,2 using recombinant viral vectors, which do not target transgenes to specific genomic sites3,4.
Alkorta-Aranburu, Gorka, Ashworth, Alan, Bacchetta, Rosa, Carmody, David, Carnevale, Julia, Chen, Jeff W, Cho, Min, Del Gaudio, Daniela, Esensten, Jonathan H, Ferris, Andrea L, Greeley, Siri Atma W, Gurumurthy, Channabasavaiah B, Haugwitz, Michael, Herold, Kevan C, Hiatt, Joseph, Hughes, Stephen H, Krystofinski, Paige, Kupfer, Gary M, Lee, Michael R, Leonetti, Manuel D, Li, Han, Li, P Jonathan, Mao, Ying, Marson, Alexander, Matsumoto, Hiroyuki, May, Andrew P, Meffre, Eric, Morell, Montse, Nguyen, David N, Pellerin, Laurence, Puig-Saus, Cristina, Putnam, Amy L, Quadros, Rolen M, Ribas, Antoni, Romberg, Neil, Roncarolo, Maria Grazia, Roth, Theodore L, Saco, Justin, Schickel, Jean-Nicolas, Schumann, Kathrin, Shifrut, Eric, Smith, Baz, Tobin, Victoria, Weissman, Jonathan S, Yu, Ruby   +44 more
core  

Genomic Insights Into Risperidone Treatment Outcomes in Children and Adolescents: Experience From a Psychiatric Hospital Serving Rural Youth

Clinical Pharmacology &Therapeutics, EarlyView.
Risperidone is a commonly used antipsychotic for treating psychiatric illness in children and adolescents. There is a large variability in risperidone response and discontinuation rates remain high. Pharmacogenomics offers the opportunity to improve risperidone outcomes, yet studies in pediatric populations are limited.
Jack W. Staples, Shayna R. Killam, Karen E. Brown, Rachel Dalton, Elizabeth Sather, Qiang Chen, Joshua Loveland, Corbin Schwanke, Abdallah F. Elias, Kristin L. Bigos, Erica L. Woodahl   +10 more
wiley   +1 more source

Genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangzhou, China

Human Genomics, 2023
Background G6PD deficiency is a common inherited disorder worldwide and has a higher incidence rate in southern China. Many variants of G6PD result from point mutations in the G6PD gene, leading to decreased enzyme activity.
Ziyan Li, Zhenyi Huang, Yanxia Liu, Yunshan Cao, Yating Li, Yanping Fang, Meiying Huang, Zixi Liu, Lijuan Lin, Lingxiao Jiang   +9 more
doaj   +1 more source

Establishment of pediatric reference ranges for circulating naïve and memory T and B cell subsets guided by the human immunophenotyping consortium standardization initiative: A large, single center U.S. experience

Cytometry Part B: Clinical Cytometry, EarlyView.
Abstract Our knowledge of the immune system continues to expand at a rapid pace, and this coupled with technological advances now enables us to interrogate both the breadth and the depth of the immune response at levels without precedent. This has also facilitated rapidly integrating some of this carefully vetted knowledge into clinical practice ...
Aaruni Khanolkar, Aisha Ahmed
wiley   +1 more source

Plasma transfusion combined with chelating therapy alleviates fulminant Wilson's disease with a single Arg778Leu heterozygote mutation

Annals of Hepatology, 2019
Wilson's disease (WD), resulting from homozygote and compound heterozygote mutations in ATB7B, is an autosomal recessive disease. WD associated acute liver failure (ALF) is fatal, and a revised Wilson's disease prognostic index (RWPI) >11 is a reliable ...
Longgen Liu, Qing Gong, Juan Liu, Hongyu Shen, Hongyu Zhang, Yuan Xue   +5 more
doaj   +1 more source

Levels of multiallelic overdominance fitness, heterozygote excess and heterozygote deficiency

Theoretical Population Biology, 1990
Concepts and results on selection balance in multiallelic systems are described. These include a multidimensional concept of heterozygote excess and heterozygote deficiency, a hierarchy of means of assessment of heterozygote advantage, comparisons and contrasts of allelic versus gametic polymorphic states, and conditions defining stable equilibria of ...
openaire   +3 more sources

The segregation of Calb1, Calb2, and Prph neurons reveals distinct and mixed neuronal populations and projections to hair cells in the inner ear and central nuclei

Developmental Dynamics, EarlyView.
Three populations of hair cells have a distinct expression of Calb1 and Calb2. (A, A′D) The central is highly positive for Calb1 while surrounding HC are positive for Calb2. Later, a calyx forms primarily with Calb1. (B, B′, D′, D″) Saccule and utricle start out positive for Calb2 but will upregulate the Calb1 in the striola that is primarily forming ...
Jeong Han Lee, Ebenezer N. Yamoah, Jennifer Kersigo, Karen Elliott, Niya LaRoda, Gabriela Pavlinkova, Bernd Fritzsch   +6 more
wiley   +1 more source

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

Developmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell, Tracy Eng, Jeffrey D. Amack, David Pruyne   +3 more
wiley   +1 more source

CRISPR/Cas-based screening of long non-coding RNAs (lncRNAs) in macrophages with an NF-κB reporter. [PDF]

, 2017
The innate immune system protects against infections by initiating an inducible inflammatory response. NF-κB is one of the critical transcription factors controlling this complex response, but some aspects of its regulation remain unclear.
Carpenter, Susan, Covarrubias, Sergio, Fong, Nicholas, Hanley, Nicole, Katzman, Sol, McManus, Michael T, Robinson, Elektra K, Shapleigh, Barbara, Vollmers, Apple   +8 more
core   +1 more source