Results 151 to 160 of about 204,642 (262)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

CAQ Corner: Immune‐mediated complications

, 2022
Liver Transplantation, EarlyView.
Mary Thomson, John R. Lake
wiley   +1 more source

The HCMV‐encoded miR‐UL36‐3p promotes angiogenesis of endothelial cells by downregulating FOXO3

Animal Models and Experimental Medicine, EarlyView.
This illustration shows the role of hcmv‐miR‐UL36‐3p in endothelial cell angiogenesis. During productive infection, endothelial cells express HCMV‐encoded miRNAs. Viral hcmv‐miR‐UL36‐3p promotes endothelial cell proliferation, migration, and capillary tube formation by directly targeting and downregulating FOXO3. The pro‐angiogenic activity of hcmv‐miR‐
Chen Wang, Mengyu Li, Guosheng Li, Hao Zhang, Cheng Wang, Chen‐Yu Zhang   +5 more
wiley   +1 more source

Targeting Human Cytomegalovirus as a Novel Approach for Glioblastoma Treatment. [PDF]

Pathogens
Flores T, Delpierre E, Male G, Gourin C, Hantz S, Damour A, Ligat G.   +6 more
europepmc   +1 more source

Diverse Genetic Etiologies of Unilateral Polymicrogyria

Annals of Neurology, EarlyView.
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai, Jennifer E. Neil, Shyam K. Akula, Dina Amrom, Eva Andermann, Ann Bergin, Roberto Caraballo, Allen Y. Chen, John Gaitanis, Ganeshwaran H. Mochida, Jill M. Gotoff, Giorgi Kuchukhidze, Daphna Marom, Christelle Moufawad ElAchkar, Miriam Regev, Lance H. Rodan, Heather Olson, Bo Zhang, Annapurna Poduri, Diane D. Shao, Christopher A. Walsh, Edward Yang   +21 more
wiley   +1 more source

Congenital Human Cytomegalovirus and the Complement System. [PDF]

Viruses
Garon AC, Liu Y, Liu F.
europepmc   +1 more source

Nonviral Gold Nanoparticle‐Mediated Delivery of CRISPR‐Cas9 Ribonucleoprotein and Long DNA Transgenes Into Primary Blood Cells

Advanced NanoBiomed Research, EarlyView.
CRISPR/Cas9 has revolutionized the field of gene therapy, but delivery remains an outstanding issue. We propose a nonviral gold‐nanoparticle platform for co‐delivery of CRISPR/Cas9 ribonucleoprotein and long 2.1 kilobase dsDNA transgene constructs. This CRISPR‐AuNP is inexpensive to produce and mediate gene editing and DNA delivery in T cells and CD34+
Rachel A. Cunningham, Karthikeya S. V. Gottimukkala, Daniel D. Lane, Katrina Poljakov, Patricia Lipson, Mark R. Enstrom, Alessandro Rizzi, Aude G. Chapuis, Jennifer E. Adair   +8 more
wiley   +1 more source

Decoding the antiviral potential of eugenol, thymol and vanillin against human cytomegalovirus infection. [PDF]

J Gen Virol
Martín-Martín C, Ruiz-Rico M, Barat JM, García-Ríos E, Pérez-Romero P.   +4 more
europepmc   +1 more source

Pharmacokinetics of dolutegravir, tenofovir and lamivudine during venous–venous extracorporeal membrane oxygenation (VV‐ECMO): A case report

British Journal of Clinical Pharmacology, EarlyView.
While providing potentially life‐saving cardiorespiratory support for critically ill patients, extracorporeal membrane oxygenation (ECMO) may detrimentally affect pharmacokinetic (PK) performance and concurrent drug efficacy and safety. We describe a patient with Pneumocystis jirovecii pneumonia (PJP) in the context of acquired immunodeficiency ...
Tom C. Zwart, Emiel Leegwater, Thomas H. Ottens, Emile F. Schippers, Erik B. Wilms, David M. Burger, Cees van Nieuwkoop, Liesbeth B. E. Bosma   +7 more
wiley   +1 more source

Palmitoylation of the human cytomegalovirus tegument protein pp28 facilitates virus release. [PDF]

PLoS Pathog
Lee JB, Koo N, Park JM, Seo JY.
europepmc   +1 more source