Results 191 to 200 of about 9,740,536 (302)

GelMA‐based 3D spheroids recapitulate transcriptomic and functional hallmarks of myeloid sarcoma

FEBS Open Bio, EarlyView.
GelMA 5% hydrogels support the formation of myeloid leukemia spheroids that recapitulate MS‐specific features, including G1 arrest, apoptosis, and ECM‐driven transcriptomic reprogramming. The 3D model mimicked soft‐tissue‐like stiffness and oxygen conditions, and transcriptomic convergence with primary MS samples confirmed its utility as a preclinical ...
Nicolas Germain, Elise Buret, Le Hoang Thanh Nguyen, Marion Cocheteux, Nicolas Touya, Mélanie Dhayer, Romain Dubois, Frank Lafont, Sebastien Janel, Patrice Maboudou, Steve Lancel, Philippe Marchetti   +11 more
wiley   +1 more source

Prenatal counseling and the detection of copy-number variants [PDF]

Genetics in Medicine, 2013
openaire   +2 more sources

Long-read based detection of large copy number variants with potential functional significance using the ContextSV structural variant caller. [PDF]

NAR Genom Bioinform
Perdomo JE, Ahsan MU, Akoto J, Bauer J, Akizu N, Wang K.   +5 more
europepmc   +1 more source

Identification and characterisation of calcitonin receptor isoforms expressed in glioblastoma derived glioma stem and U‐87 MG cells

FEBS Open Bio, EarlyView.
Glioblastoma cells express calcitonin receptor variants (CT receptor isoforms) that may help them survive stress. Using qPCR, transcript‐specific long‐read nanopore sequencing, immunofluorescence co‐localisation and comparative sequence analysis, this study identifies a novel alternatively spliced CALCR transcript that encodes the CTb receptor isoform ...
Pragya Gupta, Sebastian GB Furness, Tahereh Gharbi, Ric De Paoli‐Iseppi, Shweta S. Joshi, Michael Clark, David L. Hare, Peter Wookey   +7 more
wiley   +1 more source

Common on “Prenatal diagnosis of a de novo 16p11.2 microduplication of 16p11.2 BP4-5 copy number variants in a fetus with apparently normal phenotype”

Taiwanese Journal of Obstetrics & Gynecology
Jiaxuan Tan, Hongmei Shen
doaj   +1 more source

Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women. [PDF]

Ann Med
Hu L, Cao X, Zeng S, Wen L, Zhong J, Liu Y, Liu W, Wei F.   +7 more
europepmc   +1 more source

Using cell‐free RNA to identify B‐ and T‐cell clonality for diagnosis and monitoring of B‐ and T‐cell neoplasms

FEBS Open Bio, EarlyView.
Using peripheral blood for determining B‐cell or T‐cell clonality is more reliable when we use cell‐free RNA (cfRNA) because cells release blood significantly more RNA than DNA. Next‐generation sequencing (NGS) of cfRNA allows us to evaluate fragment cfRNA and evaluate clonality reliably without the need for prior determination of the specific dominant
Adam Albitar, Sally Agersborg, Ahmed Charifa, Pooja Phull, Noa Biran, David Vesole, Harsh Parmar, Andrew Pecora, Andrew Ip, Andre Goy, David Siegel, Maher Albitar   +11 more
wiley   +1 more source

Contribution of Copy Number Variants and Cumulative Genetic Load to Autism Spectrum Disorders: Integrative Insights from Chromosomal Microarray Analysis. [PDF]

Int J Mol Sci
Di Iorio MR, La Monica I, Imperatore A, Sica A, Iorio V, Pastore L, Lombardo B.   +6 more
europepmc   +1 more source

Comparative assessment of crystallographic and cryo‐EM models in the Protein Data Bank

FEBS Open Bio, EarlyView.
Raw data obtained by X‐ray crystallography or cryo‐EM result in experimental maps, ultimately fitted by atomic models. Although the physical principles are different, the final results can be viewed, compared, and evaluated in the same way. With cryogenic electron microscopy (cryo‐EM) on track to surpass X‐ray crystallography as the preferred method ...
Alexander Wlodawer, Pawel Rubach, Zbigniew Dauter, Wojciech Dec, Dariusz Brzezinski, Marta Kulik, Wladek Minor, Mariusz Jaskolski   +7 more
wiley   +1 more source

Increased Prevalence of Rare Copy Number Variants in Australian Children With Fetal Alcohol Spectrum Disorder: Experience in a State-Wide Diagnostic Service. [PDF]

Alcohol Clin Exp Res (Hoboken)
Byrnes S, Collins F, Elliott E.
europepmc   +1 more source