Results 131 to 140 of about 3,800,975 (380)
A worldwide correlation of lactase persistence phenotype and genotypes [PDF]
, 2010 Background: The ability of adult humans to digest the milk sugar lactose - lactase persistence - is a dominant Mendelian trait that has been a subject of extensive genetic, medical and evolutionary research.
Ingram, C.J.E. +4 more
core +3 more sources
The Human Phenotype Ontology in 2017
Nucleic Acids Res., 2016 Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described.
Sebastian Köhler +58 more
semanticscholar +1 more source
Definitions, 2020 B ARBARA McCLINTOCK’s remarkable life spanned the history of genetics in the 20th century. Though technically rooted in MENDEL’S experiments carried out decades earlier, the science of genetics began with the rediscovery of his work at the turn of the ...
V., Fedoroff
semanticscholar +1 more source
PICALM::MLLT10 translocated leukemia
FEBS Letters, EarlyView.This comprehensive review of PICALM::MLLT10 translocated acute leukemia provides an in‐depth review of the structure and function of CALM, AF10, and the fusion oncoprotein (1). The multifaceted molecular mechanisms of oncogenesis, including nucleocytoplasmic shuttling (2), epigenetic modifications (3), and disruption of endocytosis (4), are then ...
John M. Cullen +7 more
wiley +1 more source
, 2023 Little progress has been made in the identification of novel pharmacological therapies for critically ill patients with sepsis, acute kidney injury, and acute respiratory distress syndrome. This lack of progress can likely be explained in part by inherent heterogeneity in the critically ill population, including but not limited to the dynamic state of ...
Heijnen, Nanon F. L. +2 more
openaire +2 more sources
FEBS Letters, EarlyView.Bone metastasis in prostate cancer (PCa) patients is a clinical hurdle due to the poor understanding of the supportive bone microenvironment. Here, we identify stearoyl‐CoA desaturase (SCD) as a tumor‐promoting enzyme and potential therapeutic target in bone metastatic PCa.
Alexis Wilson +7 more
wiley +1 more source
Three Ontologies to Define Phenotype Measurement Data
Frontiers in Genetics, 2012 There is an increasing need to integrate phenotype measurement data across studies for both human studies and those involving model organisms. Current practices allow researchers to access only those data involved in a single experiment or multiple ...
Mary eShimoyama +8 more
doaj +1 more source
E-cadherin can limit the transforming properties of activating β-catenin mutations [PDF]
, 2015 Wnt pathway deregulation is a common characteristic of many cancers. But only Colorectal Cancer predominantly harbours mutations in APC, whereas other cancer types (hepatocellular carcinoma, solid pseudopapillary tumours of pancreas) have activating ...
Alan R Clarke +27 more
core +2 more sources
Genotype–phenotype correlations in recessive titinopathies [PDF]
, 2020 Marco Savarese +40 more
openalex +1 more source
β‐TrCP overexpression enhances cisplatin sensitivity by depleting BRCA1
Molecular Oncology, EarlyView.Low levels of β‐TrCP (Panel A) allow the accumulation of BRCA1 and CtIP, which facilitate the repair of cisplatin‐induced DNA damage via homologous recombination (HR) and promote tumor cell survival. In contrast, high β‐TrCP expression (Panel B) leads to BRCA1 and CtIP degradation, impairing HR repair, resulting in persistent DNA damage and apoptosis ...
Rocío Jiménez‐Guerrero +8 more
wiley +1 more source