Results 141 to 150 of about 374,677 (247)

Compound Heterozygous Structural Variants in Cases with Unsolved PRKN-Associated Parkinson's Disease. [PDF]

Mov Disord
Fant A, Trova S, Monfrini E, Treves G, Musacchia F, Landuzzi F, Mandich P, Amoroso A, Sanges R, Pandolfini L, Cavallieri F, Valzania F, Fioravanti V, Di Rauso G, Brescia G, Valente EM, Tiranti V, Romito LM, Reale C, Garavaglia B, Elia AE, Cavalli A, Di Fonzo A, Vecchi M, Gustincich S.   +24 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

Screening of Hidden Pathogenic Structural Variants in PRKN. [PDF]

Mov Disord
Daida K, Cogan G, Tesson C, Lesage S, Schaake S, Balck A, Trinh J, Lohmann K, Malik L, Baker B, Paquette K, Moller A, Sue C, Funayama M, Hattori N, Singleton A, Klein C, Brice A, Billingsley KJ, Blauwendraat C.   +19 more
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

Structural Variants: Mechanisms, Mapping, and Interpretation in Human Genetics. [PDF]

Genes (Basel)
Pande S, Dawood M, Grochowski CM.
europepmc   +1 more source

Establishing an assay to evaluate d‐amino acid oxidase enzyme kinetics and inhibition using WST‐8 redox dye

FEBS Open Bio, EarlyView.
This study investigated a novel WST‐8‐based assay for evaluating d‐Amino acid oxidase (DAO) inhibitors. We confirmed its effectiveness using known inhibitors and found that uremic toxins possess relatively weak inhibitory activity compared to existing drugs.
Kahoko Miyake, Yuki Enoki, Yuka Nakazawa, Kazuaki Taguchi, Kazuaki Matsumoto   +4 more
wiley   +1 more source

Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy. [PDF]

Front Genet
Min S, Sun J, Chen W, Feng Z, Zhuang Q, Gao Y, Lin S, Sun S, Lu Y, Li S, Tian X, Huang G, Sheng W, Huang X.   +13 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

Screening and epitope characterization of Nidogen‐2‐specific nanobodies

FEBS Open Bio, EarlyView.
Camel immunization and phage display were employed to generate high‐affinity VHH nanobodies against Nidogen‐2. After library construction, biopanning, ELISA screening, sequencing, and recombinant expression, selected nanobodies were purified and characterized, leading to the preliminary exploration of a nanobody‐based sandwich ELISA for specific ...
Jianchuan Wen, Qianqian Cui, Zhongyun Lan, Yingjun Wang, Shuaiying Zhao, Wenxuan Feng, Yunfeng Liu, Qiting Huang, Dongna Zhang, Jianfeng Xu   +9 more
wiley   +1 more source

Individual Genomic Distinctness of Rice Germplasm as Measured with an Average Pairwise Dissimilarity of Genome-Wide SNPs and Structural Variants. [PDF]

Plants (Basel)
Fu YB.
europepmc   +1 more source