Results 211 to 220 of about 4,271,392 (311)

Molecular QTL are enriched for structural variants in a cattle long-read cohort. [PDF]

Commun Biol
Mapel XM, Leonard AS, Pausch H.
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

Tissue-specific gene dosage disruption is a key feature and pathogenic mechanism of structural variants in the human genome. [PDF]

Genome Med
Liu X, Chen Z, Jiang Q, Shen H, Liu H, Wang Z, Li Z, Wu J, Jiang H, Li X.   +9 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

Genome-wide associations of structural variants with human traits through imputation from long-read assemblies. [PDF]

Nat Genet
Bai WY, Liu S, Duan Z, Yang JJ, Chen J, Hou J, Wu L, Li N, Qi T, Yang J.   +9 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

Mutations and structural variants arising during double-strand break repair. [PDF]

Proc Natl Acad Sci U S A
Dalin S, Webster S, Sugawara N, Wu Q, Zhang S, Macias C, Sapède E, Cui T, Liang V, Tran L, Beroukhim R, Haber JE.   +11 more
europepmc   +1 more source

Structural and biochemical insights into the thermostable esterase Ta0887 from Thermoplasma acidophilum

FEBS Open Bio, EarlyView.
In this study, a novel esterase from the thermoacidophilic archaeon Thermoplasma acidophilum was biochemically and structurally characterized. Our results demonstrate that Ta0887 is a highly thermostable esterase that preferentially hydrolyzes p‐nitrophenyl hexanoate and possesses an α‐helical cap domain that likely contributes to its substrate ...
Alejandro Delgado‐Rey, Miriam Livier Llamas‐García, Gabriela M. Montero‐Morán, Leticia Santos, Samuel Lara‐González   +4 more
wiley   +1 more source

Optical mapping reveals a higher level of large-scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease. [PDF]

J Pathol
Hasan MM, Craddock J, Gong T, Lyons RJ, Stevanovski I, Chintalaphani SR, Deveson IW, Jaratlerdsiri W, Kumar KR, Hayes VM.   +9 more
europepmc   +1 more source

Threonine 348 regulates the subcellular localization of PTEN

FEBS Open Bio, EarlyView.
Thr348 in the C2 domain is a key contributor to PTEN subcellular localization. The PTEN350 fragment and PTENA4 accumulated in the nucleus, whereas PTENK13R,A4 predominantly localized to the plasma membrane. In contrast, substitution of Thr348 with Asp (T348D) disrupted these characteristic localization patterns, resulting in predominant cytoplasmic ...
Takashi Kato, Suzu Tanaka, Miyu Ohashi
wiley   +1 more source