Results 161 to 170 of about 1,216,010 (296)

Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service. [PDF]

PLoS One, 2022
Trachoo O, Yingchoncharoen T, Ngernsritrakul T, Iemwimangsa N, Panthan B, Klumsathian S, Srisukh S, Mukdadilok A, Phusanti S, Charoenyingwattana A, Chareonsirisuthigul T, Chantratita W, Tangcharoen T.   +12 more
europepmc   +1 more source

Colorectal cancer‐derived FGF19 is a metabolically active serum biomarker that exerts enteroendocrine effects on mouse liver

Molecular Oncology, EarlyView.
Meta‐transcriptome analysis identified FGF19 as a peptide enteroendocrine hormone associated with colorectal cancer prognosis. In vivo xenograft models showed release of FGF19 into the blood at levels that correlated with tumor volumes. Tumoral‐FGF19 altered murine liver metabolism through FGFR4, thereby reducing bile acid synthesis and increasing ...
Jordan M. Beardsley, Michael W. Rohr, Joseph A. Goode, Sai Preethi Nakkina, Jignesh G. Parikh, Deborah A. Altomare   +5 more
wiley   +1 more source

Leveraging PCORnet® to Advance Clinical Genetics and the Genomic Learning Health System. [PDF]

Med Care
Rothman RL, Peterson J, Kripalani S, Barrett JB, Bastarache L, Lenert L, Taylor B, Carnahan R, Waitman LR.   +8 more
europepmc   +1 more source

Integrating clinical genetics in cardiology: Current practices and recommendations for education. [PDF]

Genet Med, 2022
Scherr CL, Kalke K, Ramesh S, Fakhari H, Dellefave-Castillo LM, Smith ME, Kalny C, McNally EM, Rasmussen-Torvik LJ.   +8 more
europepmc   +1 more source

Identification of serum protein biomarkers for pre‐cancerous lesions associated with pancreatic ductal adenocarcinoma

Molecular Oncology, EarlyView.
This work identified serum proteins associated with pancreatic epithelial neoplasms (PanINs) and early‐stage PDAC. Proteomics screens assessed genetically engineered mice with abundant PanINs, KPC mice (Lox‐STOP‐Lox‐KrasG12D/+ Lox‐STOP‐Lox‐Trp53R172H/+ Pdx1‐Cre) before PDAC development and also early‐stage PDAC patients (n = 31), compared to benign ...
Hannah Mearns, Jaclyn S. Long, Sergio Lilla, Kelly Hodge, Marcus J. G. W. Ladds, Colin Nixon, Paula Fernández‐Palanca, Sara Zanivan, Pilar Acedo, Stephen P. Pereira, Kevin M. Ryan   +10 more
wiley   +1 more source

Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics. [PDF]

Int J Mol Sci
Treccarichi S, Vinci M, Virgillito M, Musumeci A, Bruno F, Papa C, Galati Rando R, Marano P, Greco D, Fallea A, Brancato D, Calì S, Garcia G, Federico C, Saccone S, Calì F.   +15 more
europepmc   +1 more source

Meeting abstracts from the Annual Conference "Clinical Genetics of Cancer 2022". [PDF]

Hered Cancer Clin Pract, 2023
europepmc   +1 more source

Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study. [PDF]

BMC Med Genomics, 2022
Veatch OJ, Steinle J, Hossain WA, Butler MG.   +3 more
europepmc   +1 more source

Subtype‐specific enhancer RNAs define transcriptional regulators and prognosis in breast cancers

Molecular Oncology, EarlyView.
This study employed machine learning methodologies to perform the subtype‐specific classification of RNA‐seq data sets, which are mapped on enhancers from TCGA‐derived breast cancer patients. Their integration with gene expression (referred to as ProxCReAM eRNAs) and chromatin accessibility profiles has the potential to identify lineage‐specific and ...
Aamena Y. Patel, Peyman Zarrineh, Nathnael T. Tuffa, Jigar H. Sheth, Sumitra Mohan, Mudassar Iqbal, Sankari Nagarajan   +6 more
wiley   +1 more source

From tradition to transformation: evolving models of care in clinical genetics. [PDF]

Curr Opin Pediatr
Curd H, Gorrie A, Fennell AP.
europepmc   +1 more source