Results 141 to 150 of about 176,003 (260)

Deciphering copy number variations and gene implications in an Egyptian cohort with autism spectrum disorders. [PDF]

BMC Med Genomics
Mohamed AM, Eid OM, Amr KS, Mahrous R, Hemimi M, Elsaeid A, Erian PSF, Gharib S, Hussein SH, El-Massieh PMA, Meguid NA.   +10 more
europepmc   +1 more source

C2α‐carbanion‐protonating glutamate discloses tradeoffs between substrate accommodation and reaction rate in actinobacterial 2‐hydroxyacyl‐CoA lyase

FEBS Open Bio, EarlyView.
Enzymes of the 2‐hydroxyacyl‐CoA lyase group catalyze the condensation of formyl‐CoA with aldehydes or ketones. Thus, by structural adaptation of active sites, practically any pharmaceutically and industrially important 2‐hydroxyacid could be biotechnologically synthesized. Combining crystal structure analysis, active site mutations and kinetic assays,
Michael Zahn, Barbara Seroka, Ryszard Lazny, Zenon Lotowski, Thore Rohwerder   +4 more
wiley   +1 more source

Comprehensive analysis of copy number variations in congenital heart defects Tunisian patients: chromosomal microarray analysis insights. [PDF]

Mol Cytogenet
Khelifi R, Othmane H, Ajmi H, Slimani W, Bennour A, Dardour L, Soyeh N, Benzarti A, Rjiba K, Abdallah HH, Rassass A, Kooli R, Mghirbi O, Kammoun M, Khelifa HB, Bahri F, Hayet M, Ammar A, Ghanmi S, Mathlouthi J, Ben Hamida H, Habboul Z, Kemis T, Kharrat H, Hassine N, Tej A, Bellalah M, Chouikh F, Houssine M, Mahdhaoui A, Kortas C, Guith A, Maatouk F, Naffeti E, Soua H, Gribaa M, Saad A, Mougou-Zerelli S.   +37 more
europepmc   +1 more source

A light‐triggered Time‐Resolved X‐ray Solution Scattering (TR‐XSS) workflow with application to protein conformational dynamics

FEBS Open Bio, EarlyView.
Time‐resolved X‐ray solution scattering captures how proteins change shape in real time under near‐native conditions. This article presents a practical workflow for light‐triggered TR‐XSS experiments, from data collection to structural refinement. Using a calcium‐transporting membrane protein as an example, the approach can be broadly applied to study ...
Fatemeh Sabzian‐Molaei, Fredrik Orädd, Konstantinos Magkakis, Magnus Andersson   +3 more
wiley   +1 more source

Promiscuous stimulation of HSP70 ATPase activity by parasite‐derived J‐domains

FEBS Open Bio, EarlyView.
The malaria parasite Plasmodium falciparum exports three highly homologous yet functionally divergent J‐domain proteins into human erythrocytes. Here, we show that J‐domains isolated from all three proteins effectively stimulate the ATPase activity of both endogenous host and exported parasite HSP70 chaperones.
Julian Barth, Moritz Koch, Le‐Han Rössner, Johanna Eichhorn, Denys Pogoryelov, Matthias P. Mayer, Jude M. Przyborski   +6 more
wiley   +1 more source

Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy-number variations in 9,708 pregnancies. [PDF]

Mol Cytogenet
Suo F, Wang J, Liao M, Wang Y, Zhang Y, Lu X, Gou L, Zhang M, Wu Q, Yin X, Li X, Sun M, Wang L, Gu M, Zhu J.   +14 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

<i>RNU2-1</i> gene copy number variations do not affect serum levels of miR-1246 as a biomarker for lung adenocarcinoma. [PDF]

Exp Ther Med
Ueda M, Sato S, Miyagi Y, Aiso T.
europepmc   +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

Clinical Implications and Limitations of Noninvasive Prenatal Testing for Detecting Fetal Copy Number Variations: A Multicenter Study in Shaanxi Province, China. [PDF]

Med Sci Monit
Wang H, Zhang L, Yang T, Jia Y, Liu R, Jia Z, Liu Y, Bai G.   +7 more
europepmc   +1 more source