Results 151 to 160 of about 201,910 (397)

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo   +4 more
wiley   +1 more source

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some vascular anomalies, such as hamartomas associated with PTEN hamartoma tumor syndrome (PHTS) and fibroadipose vascular anomaly (FAVA, often due to PI3KCA variants), share similar clinical, radiological, and histopathological presentations that challenge clinicians to provide an accurate diagnosis.
Luciana Daniela Garlisi Torales   +10 more
wiley   +1 more source

Advances on Albumin‐Based Carriers for Anticancer Drug Delivery

open access: yesAdvanced NanoBiomed Research, EarlyView.
This study systematically classifies the drug delivery modes of albumin by examining the characteristics of its surface‐active groups and internal binding sites. It provides an in‐depth analysis of various drug delivery strategies and their corresponding targeting mechanisms.
Ruoli Zhou   +4 more
wiley   +1 more source

Growth Hormone Promotes Lipolysis and Impairs Insulin Sensitivity by Activating the ERK/HSL Signaling Pathway in Bovine Adipocytes

open access: yesAnimal Research and One Health, EarlyView.
This study was to evaluate the role of GH in lipolysis and insulin sensitivity in bovine adipocytes and clarify the underlying mechanism. Our findings demonstrate that GH activates ERK/HSL signaling pathway, promotes lipolysis, and impairs insulin sensitivity in bovine adipocytes.
Xinxing Gao   +10 more
wiley   +1 more source

Digital morphometry of cytologic aspirate endometrial samples [Digitalna morfometrijska analiza citoloških uzoraka aspirata endometrija] [PDF]

open access: yes, 2010
Unlike cervical cytology, morphological cytology criteria in the differential diagnosis of endometrium have not yet been clearly defined, and methods to allow for more precise evaluation of endometrium status have been searched for.
Babić, Damir   +10 more
core  

Technological Innovations and Applications of Spatial Transcriptomics in Livestock and Poultry Research

open access: yesAnimal Research and One Health, EarlyView.
The paper is divided into three main sections: a review of the development of spatial transcriptomics technology, its applications in livestock and poultry research, and its future prospects. This article provides an overview of the current state of spatial transcriptomics in animal research, exploring its integration with multiomics technologies as ...
Mingyu Wang   +5 more
wiley   +1 more source

The role of Phytoestrogens in the management of menopausal symptoms [PDF]

open access: yes, 2012
Menopause reflects a change in the woman’s physiological hormonal status and is regarded as a pivotal point in a woman’s life. The commonest symptoms experienced by women during the menopause are hot flushes and night sweats.
Avendonk, Tania van
core  

Dietary Baicalin Supplementation Can Enhance the Growth Performance of Weaned Piglets and Maintain the Intestinal Barrier Integrity

open access: yesAnimal Research and One Health, EarlyView.
This research innovatively illustrates baicalin’s multifaceted mechanisms in enhancing piglets’ intestinal health: modulating bile acid metabolism via probiotics, reinforcing tight junction proteins (ZO‐1/claudin), suppressing TLR4/NF‐κB‐mediated inflammation, whereas promoting growth and reducing diarrhea.
Yuhui Gao   +6 more
wiley   +1 more source

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