Results 171 to 180 of about 475,380 (299)

Prevalence and phenotypic findings of pathogenic or likely pathogenic copy number variants in 10,537 pregnancies. [PDF]

PLoS One
Ren S, Gu W, Liu T, Yan J, Dong H, Niu C, Guo L, Guo H.   +7 more
europepmc   +1 more source

Chameleon sequences reveal structural effects in proteins representing micelle‐like distribution of hydrophobicity

FEBS Open Bio, EarlyView.
Amino acids sequence of two different proteins with the same sequence (chameleon sequence—black boxes) represent in 3D structure of the proteins different secondary structures: HHHH—helical and BBB—Beta‐structural. The chains folded in water environment adopt different III‐order structures in which the chameleon fragments appear to adopt similar status
Irena Roterman, Katarzyna Stapor, Leszek Konieczny, Krzysztof Gądek, Piotr Nowakowski   +4 more
wiley   +1 more source

Exon 7 splicing of ERα predicts poor prognosis and increases phenotypic heterogeneity in luminal a subtype breast cancer

FEBS Open Bio, EarlyView.
ERα splice variant ERα∆7 lacks the C‐terminus, and its expression may change phenotypes of breast cancers. Our results showed that ERα∆7 is found in the luminal A subtype, and elevated ERα∆7 levels are linked to improved cell survival with lower proliferation and migration.
Long Wai Tsui, Taobo Hu, Thomson Christian Husein, Wai Hei Shek, Bingrong Chen, Depeng Wang, Shu Wang, Weichuan Yu, Xiaodan Fan, Mengping Long, Toyotaka Ishibashi   +10 more
wiley   +1 more source

Childhood outcomes of fetal genomic copy-number variants: The prenatal microarray cohort study. [PDF]

Genet Med Open
McCoy J, Pynaker C, Lewis S, Amor DJ, Norris F, Gugasyan L, McGillivray G, Fawcett S, Regan M, Said JM, Begg L, Frawley N, Yuen N, Wapner R, Levy B, Walker SP, Halliday J, Hui L.   +17 more
europepmc   +1 more source

Analysing the significance of small conformational changes and low occupancy states in serial crystallographic data

FEBS Open Bio, EarlyView.
This protocol paper outlines methods to establish the success of a time‐resolved serial crystallographic experiment, by means of statistical analysis of timepoint data in reciprocal space and models in real space. We show how to amplify the signal from excited states to visualise structural changes in successful experiments.
Jake Hill, Yelyzaveta Pulnova, Elke De Zitter, Helen M. Ginn, Briony A. Yorke   +4 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

Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects.

Biological Psychiatry, 2017
K. Kendall, E. Rees, V. Escott-Price, Mark Einon, R. Thomas, J. Hewitt, M. O’Donovan, M. Owen, J. Walters, G. Kirov   +9 more
semanticscholar   +1 more source

Matrix metalloproteinase‐9 regulates cell adhesion and membrane protrusive activity of ovarian cancer cells

FEBS Open Bio, EarlyView.
Matrix metalloproteinase‐9 (MMP9) drives ovarian cancer progression. Using MMP9‐null cells (M9‐KO) created from ovarian cancer cells, we found MMP9 loss did not block Epidermal Growth Factor (EGF)‐driven E‐cadherin dissolution or EMT but delayed and reduced EGF‐driven membrane protrusions. Transient MMP9 re‐expression drove membrane protrusion.
Claire Strauel, Sam Bennett, Natalie Ehlinger, Nelson Cook, Katelyn Marvin, Caleb L. Lines, Sam Reyes, Brooke Kirby, Shawn M. Ellerbroek   +8 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

Quantitative proteomic analysis reveals different characteristics of bladder cancer cells after exposure to bisphenol A

FEBS Open Bio, EarlyView.
Bisphenol A (BPA), a common chemical in plastics, exerts dual effects on bladder cancer cells: low doses promote growth and migration, while high doses suppress growth and migration. Multi‐omics and bioinformatics reveal BPA acts via MAPK and inflammatory pathways.
Shaomin Niu, Lanlan Li, Wenjuan Jia, Hanzhong Feng, Xiaoquan Yu, Youli Zhao, Fengzhi Yuan, Hui Ding, Junqiang Tian, Yong‐Xing He, Zhiping Wang   +10 more
wiley   +1 more source