Results 51 to 60 of about 50,879 (190)

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1879-1883, August 2026.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Estandarización de la técnica PCR-RFLP del gen mitocondrial cyt b como herramienta para la identificación de fuentes de alimentación de insectos hematófagos

Memorias del Instituto de Investigaciones en Ciencias de la Salud, 2014
La identificación de la fuente de alimentación de insectos hematófagos puede proporcionar información sobre la capacidad vectorial, patrones de alimentación en condiciones naturales y proveer indirectamente datos sobre probables reservorios de ...
Liliana Chena, Eva Nara, Zunilda Sánchez, Emilio Espínola, Graciela Russomando   +4 more
doaj  

Methodological approaches to gene identification of tea raw materials and raw material composition of tea-based soft drinks

Пищевые системы
Tea or tea shrub is a plant of the Camellia sinensis species, the leaves of which, previously prepared in a special way, are the traditional raw material for the production of tea products.
R. R. Vafin, I. Yu. Mikhailova, I. I. Ageykina   +2 more
doaj   +1 more source

Pyruvate Kinase M2 Upregulation Is Associated With Guillain–Barré Syndrome Risk and Immune Dysregulation: Insights From Mendelian Randomization and the Experimental Autoimmune Neuritis Model

Brain and Behavior, Volume 16, Issue 8, August 2026.
ABSTRACT Objective This study aimed to investigate the potential involvement of pyruvate kinase M2 (PKM2) in the pathogenesis of Guillain–Barré syndrome (GBS). Methods Mendelian randomization (MR) analysis was used to evaluate the causal association between PKM2 expression and GBS susceptibility, with mediation analysis performed to explore immune cell‐
Shuping Liu, Huiying Lu, Yuge Kang, Zheman Xiao, Qian Min, Yi Dong   +5 more
wiley   +1 more source

Prevalence, associated factors and etiologic agents of oral candidiasis among HIV-positive patients in a Vietnamese general hospital [PDF]

Current Medical Mycology
Background and Purpose: Oral candidiasis (OC) is a common condition in HIV-infected individuals. This study aimed to identify the prevalence, associated factors, and causative agents of OC among HIV-infected patients in a general hospital in Vietnam ...
Canh Hoang, Tham Ngu, Tram Que, Loi Cao, Tran-Anh Le   +4 more
doaj   +1 more source

Yeasts on Tree Gum: Taxonomic, Genetic and Phenotypic Diversity

Environmental Microbiology Reports, Volume 18, Issue 4, August 2026.
Taxonomically highly diverse yeasts are associated with sour cherry gum, including genetically and physiologically heterogeneous Metschnikowia pulcherrima strains that antagonise other fungi by releasing pulcherriminic acid. ABSTRACT Depending on their composition, exudates oozing from trees can support or inhibit the growth of microorganisms.
Matthias Sipiczki
wiley   +1 more source

Determinación del ensamblaje genético de aislados axénicos colombianos de Giardia intestinalis

Salud Uninorte, 2016
Objetivo: Genotipificar muestras de Giardia aisladas de pacientes de tres regiones geográficas de Colombia. Materiales y métodos: Se examinaron 22 aislados de G.
Paula C. Hernández Atehortúa, Jacqueline Chaparro Olaya, Liliana Morales de La Pava   +2 more
doaj  

Enterococcus faecalis and Endodontic Treatment Failure: A Qualitative Systematic Review of Its Role and Elimination Strategies

Australian Endodontic Journal, Volume 52, Issue 2, Page 585-605, August 2026.
ABSTRACT The aim of this study was to synthesize evidence on the influence of Enterococcus faecalis on endodontic treatment failure and strategies for its elimination. This study followed the Preferred Reporting Items for Systematic Reviews and Meta‐Analyses (PRISMA) guidelines and was registered in PROSPERO (CRD420251022741).
Francine Santos Fernandes de Lima, Analia Gabriella Borges Ferraz Facury   +1 more
wiley   +1 more source

A novel selective stabilizer of the ryanodine receptor 2 prevents stress‐induced ventricular arrhythmias without impairing cardiac function

British Journal of Pharmacology, Volume 183, Issue 15, Page 4321-4343, August 2026.
Abstract Background and Purpose Aberrant activation of type 2 ryanodine receptors (RyR2) causes lethal arrhythmias, such as catecholaminergic polymorphic ventricular tachycardia (CPVT). Developing drugs that suppress RyR2 hyperactivation may be key to novel arrhythmia treatments.
Nagomi Kurebayashi, Masami Kodama, Hana Inoue, Masato Konishi, Masami Sugihara, Takashi Murayama, Ryosuke Ishida, Koichiro Ishii, Shuichi Mori, Yukari Endo, Xi Zeng, Yukiko U. Inoue, Takayoshi Inoue, Satoru Noguchi, Hajime Nishio, Eri Nakashima, Norio Suzuki, Noriko Nakaya, Ryushi Sato, Yuya Otori, Ayuna Tsutsumi, Mirei Takahashi, Takayuki Oka, Haruo Ogawa, Kayoko Kanamitsu, Hiroyuki Kusuhara, Utako Yokoyama, Junko Kurokawa, Hiroyuki Kagechika, Takashi Sakurai   +29 more
wiley   +1 more source

Analysis of KatG Ser315Thr Mutation in Multidrug Resistant Mycobacterium tuberculosis and SLC11A1 Polymorphism in Multidrug Resistance Tuberculosis in Central Development Region of Nepal Using PCR-RFLP Technique: A Pilot Study

Nepal Journal of Biotechnology, 2011
Ser315Thr mutations in genes encoding the mycobacteria catalase-peroxidase (KatG) has been associated with the major resistance to isoniazid (INH) in Mycobacterium tuberculosis (MTB).
Raunak Shrestha, Rubin Narayan Joshi, Kriti Joshi, Bal Hari Poudel, Bhupal Govinda Shrestha   +4 more
doaj   +1 more source