Identifying phenotype-associated subpopulations by integrating bulk and single-cell sequencing data
Nature Biotechnology, 2021 Bulk and single cell measurements are integrated to identify phenotype-associated subpopulations of cells. Single-cell RNA sequencing (scRNA-seq) distinguishes cell types, states and lineages within the context of heterogeneous tissues.
Duanchen Sun +11 more
semanticscholar +1 more source
Breastfeeding and Respiratory Infections in the First 6 Months of Life: A Case Control Study
Frontiers in Pediatrics, 2019 Background: Viral respiratory tract infections (VRI) are a major reason for hospitalization in children younger than 5 years. A case control study was conducted to investigate the potential role of breastfeeding in protecting children <1 year of age ...
Elisabetta Pandolfi +10 more
doaj +1 more source
Divergences in insulin resistance between the different phenotypes of the polycystic ovary syndrome [PDF]
, 2013 Context/Objective: Current diagnostic criteria for polycystic ovary syndrome (PCOS) have generated distinct PCOS phenotypes, based on the different combinations of diagnostic features found in each patient.
Bonin, Cecilia +12 more
core +1 more source
Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype [PDF]
, 2011 Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical
Adrian Danek +38 more
core +3 more sources
Decoding tumour phenotype by noninvasive imaging using a quantitative radiomics approach
Nature Communications, 2014 Human cancers exhibit strong phenotypic differences that can be visualized noninvasively by medical imaging. Radiomics refers to the comprehensive quantification of tumour phenotypes by applying a large number of quantitative image features.
H. Aerts +16 more
semanticscholar +1 more source
The Human Phenotype Ontology in 2021
Nucleic Acids Res., 2020 The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease.
Sebastian Köhler +50 more
semanticscholar +1 more source
Phenotypic and genotypic characteristics of children with Bartter syndrome
The Turkish Journal of Pediatrics, 2022 Introduction. Bartter syndrome (BS) is a group of autosomal-recessive tubular disorders and it is classified into five genetic subtypes. BS can also be classified by phenotype (antenatal, classic).
Serçin Güven +10 more
doaj +1 more source
Key role of MEK/ERK pathway in sustaining tumorigenicity and in vitro radioresistance of embryonal rhabdomyosarcoma stem-like cell population [PDF]
, 2016 The identification of signaling pathways that affect the cancer stem-like phenotype may provide insights into therapeutic targets for combating embryonal rhabdomyosarcoma.
Ciccarelli, Carmela +10 more
core +9 more sources
Clinical and Genetic Spectra of Inherited Liver Disease in Children in China
Frontiers in Pediatrics, 2021 Background: Children presenting with chronic liver disease or acute liver failure often have an underlying genetic disorder. The aim of this study was to analyze the clinical and genetic spectra of inherited liver disease in children in a tertiary ...
Youhong Fang +5 more
doaj +1 more source
Peroxisome biogenesis in Hansenula polymorpha: different mutations in genes, essential for peroxisome biogenesis, cause different peroxisomal mutant phenotypes [PDF]
, 1992 In Hansenula polymorpha, different monogenic recessive mutations mapped in either of two previously identified genes, PER1 and PER3, produced different peroxisomal mutant phenotypes.
Haima, Peter, +4 more
core +2 more sources