Results 201 to 210 of about 338,804 (265)

SV-MeCa: an XGBoost-based meta-caller approach for structural variant calling from short-read data. [PDF]

BMC Bioinformatics
Nkouamedjo Fankep RC, Söylev A, Kobiela AL, Blom J, Ernst C, Motameny S.   +5 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

Plastid-mediated feedback regulation of Arabidopsis LYCOPENE EPSILON CYCLASE is modulated by the promoter and a 5'UTR structural variant harbouring a conserved IRES. [PDF]

BMC Biol
Alagoz Y, Nayak JJ, Aryal R, Watkins JL, Holland S, Tissue DT, Pogson BJ, Cazzonelli CI.   +7 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

Novel structural variant in <i>CACNA1F</i> causing congenital stationary night blindness identified with whole genome sequencing. [PDF]

Ophthalmic Genet
Martinez Sanchez M, Meher N, DeBruyn H, Jain A, Sun L, Gulkas S, Altschwager P, Fulton A, Whitman MC.   +8 more
europepmc   +1 more source

Aging Is a Key Driver for Adult Acute Myeloid Leukemia

Aging and Cancer, EarlyView.
Acute myeloid leukemia (AML) is a classical age‐related hematologic malignancy, and a key driver of AML is aging, which profoundly regulates intrinsic factors such as genomic instability, epigenetic reprogramming, and metabolic dysregulation, and alters bone marrow microenvironment.
Rong Yin, Haojian Zhang
wiley   +1 more source

K-mer analysis of long-read alignment pileups for structural variant genotyping. [PDF]

Nat Commun
English AC, Cunial F, Metcalf GA, Gibbs RA, Sedlazeck FJ.   +4 more
europepmc   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Jointly benchmarking small and structural variant calls with vcfdist. [PDF]

Genome Biol
Dunn T, Zook JM, Holt JM, Narayanasamy S.   +3 more
europepmc   +1 more source

Closing the gaps, and improving somatic structural variant analysis and benchmarking using CHM13-T2T. [PDF]

Genome Res
Paulin LF, Fan J, O'Neill K, Pleasance E, Porter VL, Jones SJM, Sedlazeck FJ.   +6 more
europepmc   +1 more source