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

Genetic diseases: Problems of prenatal testing [PDF]

, 1985
Tim Beardsley
openalex   +1 more source

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

Molecular 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, Philip König, Milena Mijović, Jessica Kalla, Anil Baskan, Loan Tran, Kristina Draganić, Pedro Morata Saldaña, Carlos Uziel Pérez Malla, Janette Pfneissl, Andreas Tiefenbacher, Julijan Kabiljo, Velina S. Atanasova, Lisa Wozelka‐Oltjan, Leonhard Müllauer, Michael Bergmann, Raheleh Sheibani‐Tezerji, Gerda Egger   +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]

Lancet Reg Health West Pac
Lam WKJ, Lau CS, Luk HM, Au LWC, Chan GCP, Chan WYH, Cheng SSW, Cheng THT, Cheung LL, Cheung YF, Chong JSC, Chu ATW, Chung CCY, Chung KL, Fung CW, Fung ELW, Gao Y, Ho S, Hue SPY, Lee CH, Lee TL, Li PH, Lo HM, Man Lo IF, Loong HHF, Ma BM, Ma W, Pang SYY, Seto WK, Siu SWK, So H, Tam YH, Tang W, Wong RMS, Yap DYH, Yau MLY, Chung BHY, Lo SV, Hong Kong Genome Project.   +38 more
europepmc   +1 more source

Genetic Diseases of Mucopolysaccharide Catabolism; Single-Enzyme Deficiency Disorders

, 1977
Elizabeth F. Neufeld
openalex   +2 more sources

Genetic Eye Disease: Retinitis Pigmentosa and Other Inherited Eye Diseases [PDF]

, 1984
B. Jay
openalex   +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

European Journal of Human Genetics, 2017
Jacqueline Neubauer, M. Lecca, G. Russo, C. Bartsch, A. Medeiros-Domingo, W. Berger, C. Haas   +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

Molecular 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, Mario Ortega Duran, Solon Karapanagiotis, Alistair Martin, Meiling Gao, Riccardo Masina, Ramona Woitek, James Tanner, Fleur Tippin, Justine Kane, Jonathan Lay, Anja Brouwer, Stephen‐John Sammut, Suet‐Feung Chin, Davina Gale, Dana W. Y. Tsui, Sarah‐Jane Dawson, Nitzan Rosenfeld, Maurizio Callari, Oscar M. Rueda, Carlos Caldas   +20 more
wiley   +1 more source

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

Int J Environ Res Public Health
Rabello F, Celestino MLS, Carneiro NCR, Reis-Oliveira J, Prado HV, Abreu MHNG, Borges-Oliveira AC.   +6 more
europepmc   +1 more source

Interactive influence of infectious disease and genetic diversity in natural populations

, 1988
Stephen J. O’Brien, James F. Evermann
openalex   +1 more source

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

, 1984
Gloria M. Petersen, Diana R. Silimperi, E.M. Scott, D L Hall, Jerome I. Rotter, Joel I. Ward   +5 more
openalex   +1 more source