Results 191 to 200 of about 5,647,381 (313)

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

Survivin and Aurora Kinase A control cell fate decisions during mitosis

Molecular Oncology, EarlyView.
Aurora A interacts with survivin during mitosis and regulates its centromeric role. Loss of Aurora A activity mislocalises survivin, the CPC and BubR1, leading to disruption of the spindle checkpoint and triggering premature mitotic exit, which we refer to as ‘mitotic slippage’.
Hana Abdelkabir, Shalitha Wickrama Arachchige, Sally P. Wheatley   +2 more
wiley   +1 more source

Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med
Pal T, Christopher J, Astiazaran-Symonds E, Foulkes WD, James P, Klugman S, Kurian A, Mak J, Monteiro A, Robson M, Tischkowitz M, Stewart DR, Hanson H, ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net.   +13 more
europepmc   +1 more source

Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2020
Marilyn M. Li, E. Chao, E. Esplin, David T. Miller, K. Nathanson, S. Plon, M. Scheuner, D. Stewart, Acmg Professional Practice and Guidelines Committee   +8 more
semanticscholar   +1 more source

CDK11 inhibition induces cytoplasmic p21WAF1 splice variant by p53 stabilisation and SF3B1 inactivation

Molecular Oncology, EarlyView.
CDK11 inhibition stabilises the tumour suppressor p53 and triggers the production of an alternative p21WAF1 splice variant p21L, through the inactivation of the spliceosomal protein SF3B1. Unlike the canonical p21WAF1 protein, p21L is localised in the cytoplasm and has reduced cell cycle‐blocking activity.
Radovan Krejcir, Lukasz Arcimowicz, Lucia Martinkova, Vaclav Hrabal, Filip Zavadil Kokas, Tomas Henek, Martina Kucerikova, Ondrej Bonczek, Pavlina Zatloukalova, Lenka Hernychova, Philip J. Coates, Borivoj Vojtesek, David P. Lane   +12 more
wiley   +1 more source

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling. [PDF]

Hum Reprod
Vernimmen V, De Rycke M, Moutou C, Dreesen J, Blok MJ, van Minkelen R, Lauer-Zillhardt J, Verdyck P, Keymolen K, van Uum C, Homminga I, Brandts L, Stumpel CTRM, Coonen E, Heijligers M, van Zelst-Stams W, Zamani Esteki M, van den Wijngaard A, de Die-Smulders CEM, Paulussen ADC.   +19 more
europepmc   +1 more source

Reduced vascular leakage correlates with breast carcinoma T regulatory cell infiltration but not with metastatic propensity

Molecular Oncology, EarlyView.
A mouse model for vascular normalization and a human breast cancer cohort were studied to understand the relationship between vascular leakage and tumor immune suppression. For this, endothelial and immune cell RNAseq, staining for vascular function, and immune cell profiling were employed.
Liqun He, Chiara Testini, Neda Hekmati, Altea Bonello, Aglaia Schiza, Emmanuel Nwadozi, Mia Phillipson, Carina Strell, Michael Welsh   +8 more
wiley   +1 more source

Characterization of Treatment Utilization in a Metabolic Genetics Clinic. [PDF]

J Pediatr Pharmacol Ther
Riedy M, Briggs J, Huang T.
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

Liquid biopsy epigenetics: establishing a molecular profile based on cell‐free DNA

Molecular Oncology, EarlyView.
Cell‐free DNA (cfDNA) fragments in plasma from cancer patients carry epigenetic signatures reflecting their cells of origin. These epigenetic features include DNA methylation, nucleosome modifications, and variations in fragmentation. This review describes the biological properties of each feature and explores optimal strategies for harnessing cfDNA ...
Christoffer Trier Maansson, Anders Lade Nielsen, Boe Sandahl Sorensen   +2 more
wiley   +1 more source