Results 111 to 120 of about 5,512,004 (328)

RAD50 missense variants differentially affect the DNA damage response and mitotic progression

FEBS Letters, EarlyView.
RAD50 incorporates into the MRN complex and initiates the DNA damage response. Furthermore, RAD50 promotes mitotic progression. RAD50 missense variants capable of forming an MRN complex supported the DNA damage response and mitotic features to different extents in complementation experiments, indicating these functions are separable and might impact ...
Hanna Redeker, Swantje Kebel, Lea Völkening, Anna Vatselia, Louisa Weinhold, Girmay Asgedom, Axel Schambach, Detlev Schindler, Thilo Dörk, Kristine Bousset   +9 more
wiley   +1 more source

Revisión bibliográfica y extractos de revistas

Revista Colombiana de Obstetricia y Ginecología, 1965
"Medical, surgical anda ginecologic complications of pregnancy"   "Progress in medical genetics"
Federación Colombiana de Obstetricia y Ginecología
doaj   +1 more source

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2021
David T. Miller, Kristy Lee, W. Chung, A. Gordon, G. Herman, T. Klein, D. Stewart, L. Amendola, Kathy Adelman, S. Bale, M. Gollob, S. Harrison, R. E. Hershberger, K. Mckelvey, C. Richards, C. Vlangos, M. Watson, C. Martin   +17 more
semanticscholar   +1 more source

Cell‐free DNA aneuploidy score as a dynamic early response marker in prostate cancer

Molecular Oncology, EarlyView.
mFast‐SeqS‐based genome‐wide aneuploidy scores are concordant with aneuploidy scores obtained by whole genome sequencing from tumor tissue and can predict response to ARSI treatment at baseline and, at an early time point, to ARSI and taxanes. This assay can be easily performed at low cost and requires little input of cfDNA. Cell‐free circulating tumor
Khrystany T. Isebia, Anouk C. de Jong, Lisanne F. van Dessel, Vanja de Weerd, Corine Beaufort, Jean Helmijr, José Alberto Nakauma‐González, Job van Riet, Paul Hamberg, Daniel Vis, Michiel S. van der Heijden, Nick Beije, Martijn P. Lolkema, Teoman Deger, Saskia M. Wilting, Ronald de Wit, Maurice P. H. M. Jansen, John W. M. Martens   +17 more
wiley   +1 more source

Genealogical data in population medical genetics: field guidelines

Genetics and Molecular Biology, 2014
This is a guide for fieldwork in Population Medical Genetics research projects. Data collection, handling, and analysis from large pedigrees require the use of specific tools and methods not widely familiar to human geneticists, unfortunately leading to ...
Fernando A. Poletta, Ieda M. Orioli, Eduardo E. Castilla   +2 more
doaj   +1 more source

Highly multiplexed digital PCR assay for simultaneous quantification of variant allele frequencies and copy number alterations of KRAS and GNAS in pancreatic cancer precursors

Molecular Oncology, EarlyView.
Combining melting curve analysis enhances the multiplexing capability of digital PCR. Here, we developed a 14‐plex assay to simultaneously measure single nucleotide mutations and amplifications of KRAS and GNAS, which are common driver genes in pancreatic cancer precursors. This assay accurately quantified variant allele frequencies in clinical samples
Junko Tanaka, Tatsuo Nakagawa, Yusuke Ono, Yoshio Kamura, Takeshi Ishida, Hidemasa Kawabata, Kenji Takahashi, Hiroki Sato, Andrew S. Liss, Yusuke Mizukami, Takahide Yokoi   +10 more
wiley   +1 more source

Stealing the riches: using the human genome project for livestock research [PDF]

, 2002
The document attached has been archived with permission from the Australian Association of Cattle Veterinarians.The human genome project has brought a new era not only to medical genetics, but also to livestock molecular genetics.
Bottema, C.
core  

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2021
A. Gregg, M. Aarabi, S. Klugman, N. Leach, Michael T. Bashford, T. Goldwaser, E. Chen, T. Sparks, H. Reddi, A. Rajkovic, J. Dungan   +10 more
semanticscholar   +1 more source

Comparing self‐reported race and genetic ancestry for identifying potential differentially methylated sites in endometrial cancer: insights from African ancestry proportions using machine learning models

Molecular Oncology, EarlyView.
Integrating ancestry, differential methylation analysis, and machine learning, we identified robust epigenetic signature genes (ESGs) and Core‐ESGs in Black and White women with endometrial cancer. Core‐ESGs (namely APOBEC1 and PLEKHG5) methylation levels were significantly associated with survival, with tumors from high African ancestry (THA) showing ...
Huma Asif, J. Julie Kim
wiley   +1 more source

RELAGH - the challenge of having a scientific network in Latin America: an account from the presidents

Genetics and Molecular Biology, 2014
Latin America and the Caribbean region make up one of the largest areas of the world, and this region is characterized by a complex mixture of ethnic groups sharing Iberian languages.
Augusto Rojas-Martínez, Alejandro Giraldo-Ríos, Gerardo Jiménez-Arce, Aída Falcón de Vargas, Roberto Giugliani   +4 more
doaj   +1 more source