Results 101 to 110 of about 7,649,767 (328)

Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Genetics in Medicine, 2019
Copy-number analysis to detect disease-causing losses and gains across the genome is recommended for the evaluation of individuals with neurodevelopmental disorders and/or multiple congenital anomalies, as well as for fetuses with ultrasound ...
E. Riggs, Erica F Andersen, A. Cherry, S. Kantarci, H. Kearney, Ankita Patel, G. Raca, D. Ritter, S. South, E. Thorland, D. Pineda-Alvarez, S. Aradhya, C. Martin   +12 more
semanticscholar   +1 more source

Aggressive prostate cancer is associated with pericyte dysfunction

Molecular Oncology, EarlyView.
Tumor‐produced TGF‐β drives pericyte dysfunction in prostate cancer. This dysfunction is characterized by downregulation of some canonical pericyte markers (i.e., DES, CSPG4, and ACTA2) while maintaining the expression of others (i.e., PDGFRB, NOTCH3, and RGS5).
Anabel Martinez‐Romero, Ane Martinez‐Larrinaga, Joaquim Grego‐Bessa, Saioa Garcia‐Longarte, Hielke van Splunder, Ianire Astobiza, Amaia Ercilla, Laura Bozal‐Basterra, Isabel Mendizabal, Pilar Villacampa, Arkaitz Carracedo, Mariona Graupera   +11 more
wiley   +1 more source

Improved allele frequencies in gnomAD through local ancestry inference

Nature Communications
The Genome Aggregation Database (gnomAD) is a foundational resource for allele frequency data, widely used in genomic research and clinical interpretation.
Pragati Kore, Michael W. Wilson, Grace Tiao, Katherine Chao, Philip W. Darnowsky, Nicholas A. Watts, Jessica Honorato Mauer, Samantha M. Baxter, Genome Aggregation Database Consortium, Heidi L. Rehm, Mark J. Daly, Konrad J. Karczewski, Elizabeth G. Atkinson   +12 more
doaj   +1 more source

Tumor and germline testing with next generation sequencing in epithelial ovarian cancer: a prospective paired comparison using an 18‐gene panel

Molecular Oncology, EarlyView.
Genetic testing in epithelial ovarian cancer includes both germline and tumor‐testing. This approach often duplicates resources. The current prospective study assessed the feasibility of tumor‐first multigene testing by comparing tumor tissue with germline testing of peripheral blood using an 18‐gene NGS panel in 106 patients.
Elisabeth Spenard, Cristina Mitric, Melanie Care, Tracy L. Stockley, Raymond H. Kim, Jeanna McCuaig, Blaise Clarke, Laura Ranich, Clare Sheen, Sarah E. Ferguson, Liat Hogen, Taymaa May, Marcus Q. Bernardini   +12 more
wiley   +1 more source

Genetic Sex and Origin Identification Suggests Differential Migration of Male and Female Atlantic Bluefin Tuna (Thunnus thynnus) in the Northeast Atlantic

Evolutionary Applications
Knowledge about sex‐specific difference in life‐history traits—like growth, mortality, or behavior—is of key importance for management and conservation as these parameters are essential for predictive modeling of population sustainability.
Einar Eg Nielsen, Kim Birnie‐Gauvin, Henrik Baktoft, Haritz Arrizabalaga, Tomas Brodin, Massimiliano Cardinale, Michele Casini, Gustav Helström, Teunis Jansen, Anders Koed, Petter Lundberg, Brian R. MacKenzie, Antonio Medina, Søren Post, Naiara Rodriguez‐Ezpeleta, Andreas Sundelöf, José Luis Varela, Kim Aarestrup   +17 more
doaj   +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

Genetika Populasi dan Strategi Konservasi Badak Jawa (Rhinoceros sondaicus Desmarest 1822) (Population Genetics of Javan Rhino (Rhinoceros sondaicus Desmarest 1822) and It’s Conservation Strategy)

Jurnal Manajemen Hutan Tropika, 2011
Javan rhino (Rhinoceros sondaicus Desmarest 1822) of which spread is limited in Indonesia and Vietnam is the rarest species among 5 species of rhino in the world. Without appropriate and long-term well organized management action, the population of javan
U Mamat Rahmat
doaj   +3 more sources

Genetical genomics dissection of cotton fiber quality [PDF]

, 2008
Cotton fiber is a commodity of key economic importance in both developed and developing countries. The two cultivated species, Gossypium hirsutum and G. barbadense , are tetraploid (2n=1x= 52 . 2.3 Gb).
Jacobs, John, Lacape, Jean-Marc, Llewellyn, Danny   +2 more
core  

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

Convergence of generalized urn models to non-equilibrium attractors

, 2014
Generalized Polya urn models have been used to model the establishment dynamics of a small founding population consisting of k different genotypes or strategies.
Faure, Mathieu, Schreiber, Sebastian
core   +3 more sources