Results 91 to 100 of about 1,278,547 (317)
Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report [PDF]
, 2018 Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis ...
Bottillo, I +7 more
core +2 more sources
FEBS Letters, EarlyView.Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi +5 more
wiley +1 more source
Organoids in pediatric cancer research
FEBS Letters, EarlyView.Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley +1 more source
The morality of assisted reproduction and genetic manipulation
Cadernos de Saúde PúblicaThe author analyzes the pros and cons of various forms of assisted reproduction, including the use of so-called 'genetic manipulation'. He shows how in ethics the only arguments with any chance of reaching a consensus (or at least an agreement) are those
Maurizio Mori
doaj
75 year anniversary of E. I. Schwartz
Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова, 2014 This article is devoted to the 75 year anniversary of MD, professor, Eugene Schwartz. It represents the steps of his life and work, his scientific achievements. It shows the role of E. I. Schwartz in the development of molecular-genetic methods and their
S. N. Pchelina
doaj
Endocrinology, Diabetes & Metabolism, 2019 Objective Age‐standardized incidence of female breast cancer is 145.1 per 100000/year and 5.86 per 100000/year for neuroendocrine tumours (NET) in Canada. Evidence is scarce about gene variants that may predispose patients to develop both neoplasms.
Vincent Larouche +4 more
doaj +1 more source
Disorders of sex development (DSD): an overview of recent scientific advances [PDF]
, 2014 Developments in biotechnology have radically altered clinical and research themes in the small field of disorders of sex development, as in other rare medical conditions. In the age of genetics, an increasing number of DSDs have been identified. Aided by
Conway, GS
core
FEBS Letters, EarlyView.Fluorescent probes allow dynamic visualization of phosphoinositides in living cells (left), whereas mass spectrometry provides high‐sensitivity, isomer‐resolved quantitation (right). Their synergistic use captures complementary aspects of lipid signaling. This review illustrates how these approaches reveal the spatiotemporal regulation and quantitative
Hiroaki Kajiho +3 more
wiley +1 more source
F1000Research, 2017 With this report we aim to make available a standard operating procedure (SOP) developed for RNA stabilization of small blood volumes collected via a finger stick.
Darawan Rinchai +3 more
doaj +1 more source