Results 191 to 200 of about 6,062,135 (332)

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression

Molecular Oncology, EarlyView.
In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge, Morten Tulstrup, Gabriele Todisco, Pedro Moura, Christophe Côme, Jakob Werner Hansen, Jakob Schmidt Jespersen, Balthasar Schlotmann, Maria Creignou, Mette Dahl, Claudia Schöllkopf, Klas Raaschou‐Jensen, Krister Wennerberg, Bo Porse, Joachim Weischenfeldt, Eva Hellström‐Lindberg, Lasse Sommer Kristensen, Kirsten Grønbæk   +17 more
wiley   +1 more source

ADDENDUM: Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors

Genetics in Medicine, 2019
J. Goldman, S. Hahn, J. W. Catania, S. Larusse-Eckert, M. Butson, Malia C. Rumbaugh, M. Strecker, J. Roberts, W. Burke, R. Mayeux, T. Bird   +10 more
semanticscholar   +1 more source

Basroparib inhibits YAP‐driven cancers by stabilizing angiomotin

Molecular Oncology, EarlyView.
Basroparib, a selective tankyrase inhibitor, suppresses Wnt signaling and attenuates YAP‐driven oncogenic programs by stabilizing angiomotin. It promotes AMOT–YAP complex formation, enforces cytoplasmic YAP sequestration, inhibits YAP/TEAD transcription, and sensitizes YAP‐active cancers, including KRAS‐mutant colorectal cancer, to MEK inhibition.
Young‐Ju Kwon, Dong Young Kim, Yuna Kim, Uk‐Il Kim, Jae‐Sung Kim   +4 more
wiley   +1 more source

Parkinson Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data Validation. [PDF]

Neurol Genet
Hong S, Koretsky MJ, Lichtenberg J, Leonard HL, Pitz V, as the Global Parkinson's Genetics Program (GP2).   +5 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

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases. [PDF]

Genet Med Open
Torella A, Morleo M, Spampanato C, Castello R, Zanobio M, Piluso G, Di Letto P, Onore ME, Rahman SI, Musacchia F, Pinelli M, Vitiello G, De Riso G, Selicorni A, Mariani M, Daolio C, Capra V, Scala M, Nardecchia F, Galosi S, Mastrangelo M, Manti F, Milani D, Romano C, Greco D, Ciaccio C, D'Arrigo S, De Laurentiis A, Coppola A, Zollino M, Pasquetti D, L'Erario FF, Tummolo A, Santoro C, Garavelli L, Marini C, Bigoni S, Tirozzi A, Cetrangolo V, Parenti G, Di Bernardo D, Peron A, Maitz S, Accogli A, Cappuccio G, Banfi S, Casari G, Ballabio A, Brunetti-Pierri N, Nigro V, Telethon Undiagnosed Disease Study group.   +50 more
europepmc   +1 more source

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Genetics in Medicine, 2016
A. Gregg, B. Skotko, J. Benkendorf, K. Monaghan, K. Bajaj, R. Best, S. Klugman, M. Watson   +7 more
semanticscholar   +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

Integration of medical genetics and genomics into faculty development programs in india: assessment of success and experience of genetic research centre. [PDF]

J Community Genet
Joseph S, Minde N, Babu S, Gawde H, Naik C, Bhanothu V, Sudhakar D, Bharankar J, Agarbattiwala T, Kumar A, Sachdeva G, Mahale SD, Pande S.   +12 more
europepmc   +1 more source

The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2020
T. Grebe, G. Khushf, Margaret Chen, D. Bailey, Leslie Manace Brenman, Marc S. Williams, L. Seaver, Ethical and Legal Issues Committee ACMG Social   +7 more
semanticscholar   +1 more source