Results 241 to 250 of about 12,192,107 (344)

The atypical KRASQ22K mutation directs TGF‐β response towards partial epithelial‐to‐mesenchymal transition in patient‐derived colorectal cancer tumoroids

open access: yesMolecular Oncology, EarlyView.
TGF‐β has a complex role in cancer, exhibiting both tumor‐suppressive and tumor‐promoting properties. Using a series of differentiated tumoroids, derived from different stages and mutational background of colorectal cancer patients, we replicate this duality of TGF‐β in vitro. Notably, the atypical but highly aggressive KRASQ22K mutation rendered early‐
Theresia Mair   +17 more
wiley   +1 more source

The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project. [PDF]

open access: yesLancet Reg Health West Pac
Lam WKJ   +38 more
europepmc   +1 more source

Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases

open access: yesEuropean Journal of Human Genetics, 2017
Jacqueline Neubauer   +6 more
semanticscholar   +1 more source

A large‐scale retrospective study in metastatic breast cancer patients using circulating tumour DNA and machine learning to predict treatment outcome and progression‐free survival

open access: yesMolecular Oncology, EarlyView.
There is an unmet need in metastatic breast cancer patients to monitor therapy response in real time. In this study, we show how a noninvasive and affordable strategy based on sequencing of plasma samples with longitudinal tracking of tumour fraction paired with a statistical model provides valuable information on treatment response in advance of the ...
Emma J. Beddowes   +20 more
wiley   +1 more source

Oral Problems in Brazilian Individuals with Rare Genetic Diseases That Affect Skeletal Development. [PDF]

open access: yesInt J Environ Res Public Health
Rabello F   +6 more
europepmc   +1 more source

URIDINE MONOPHOSPHATE KINASE (UMPK)-A NEW GENETIC MARKER FOR SUSCEPTIBILITY TO HAEMOPHILUS INFLUENZAE TYPE B (HIB) DISEASE [PDF]

open access: bronze, 1984
Gloria M. Petersen   +5 more
openalex   +1 more source

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