Results 171 to 180 of about 188,720 (256)

Characterizing Rare DNA Copy-Number Variants in Pediatric Obsessive-Compulsive Disorder. [PDF]

J Am Acad Child Adolesc Psychiatry
Abdallah SB, Olfson E, Cappi C, Greenspun S, Zai G, Rosário MC, Willsey AJ, Shavitt RG, Miguel EC, Kennedy JL, Richter MA, Fernandez TV.   +11 more
europepmc   +1 more source

Purification and preparation of Marchantia polymorpha Auxin Response Factor 2 for phase separation studies

FEBS Open Bio, EarlyView.
We describe detailed protocols for the purification and preparation of Marchantia polymorpha Auxin Response Factor 2 (MpARF2). This protein is fused to an MBP solubility tag and an mNG fluorescent tag and is purified from Escherichia coli. The presented procedures make it possible to study MpARF2 assemblies, which could arise from phase separation ...
Bas Janssen, Robin Romein, Willy A. M. van den Berg, Simon Lindhoud, Jan Willem Borst, Carlo P. M. van Mierlo   +5 more
wiley   +1 more source

Copy number variants reveal divergent genetic and diagnostic cortical signatures across psychiatric disorders

Kumar K, Liao Z, Kopal J, Moreau C, Ching C, Modenato C, Snyder W, Kazem S, Martin C, Belanger A, Fontaine V, Jizi K, Huguet G, Boen R, Kushan L, Silva A, Bree Mvd, Linden D, Owen M, Hall J, Lippé S, Dumas G, Draganski B, Almasy L, Thomopoulos S, Jahanshad N, Sønderby I, Andreassen O, Glahn D, Raznahan A, Bearden C, Paus T, Thompson P, Jacquemont S.   +33 more
europepmc   +1 more source

Avidin is evolutionarily conserved in fish but dispensable for development and resistance against Streptococcus agalactiae in zebrafish

FEBS Open Bio, EarlyView.
The presence of biotin‐binding avidin proteins in fish and their biological significance are poorly characterized. We cataloged fish avidins and demonstrate that they are widely present and evolutionarily conserved. We created avd knockout zebrafish and show that zebavidin is dispensable for development and that resistance of avd knockout embryos in ...
Anni K. Saralahti, Markus J. T. Ojanen, Mataleena Parikka, Otto Kauko, Mika Rämet, Vesa P. Hytönen   +5 more
wiley   +1 more source

Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield. [PDF]

Hum Mutat
Bonamici L, Artuso L, Marino M, Toss A, Sidoti D, Barbieri E, Venturelli M, Marchi I, Pescucci C, Manfredini R, Papi L, Dominici M, Cortesi L, Tenedini E, Tagliafico E.   +14 more
europepmc   +1 more source

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

Copy number variants in fetuses with isolated and non-isolated increased nuchal translucency detected by chromosomal microarray analysis. [PDF]

Front Genet
Huang S, Wu H, She L, Liu L.
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

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics. [PDF]

Clin Genet
Birnbaum R, Slovik M, Zenvirt S, Livyatan I, Altman I, Gershon S, Rips J, Daum H, Rosenbluh C, Elpeleg O, Meiner V, Frumkin A, Mor-Shaked H, Harel T.   +13 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