Results 131 to 140 of about 162,786 (255)

Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and the RBFOX1 Gene. [PDF]

ACS Chem Neurosci, 2023
Kostic M, Raymond JJ, Freyre CAC, Henry B, Tumkaya T, Khlghatyan J, Dvornik J, Li J, Hsiao JS, Cheon SH, Chung J, Sun Y, Dolmetsch RE, Worringer KA, Ihry RJ.   +14 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

Copy number variants of ABCF1, IL17REL, and FCGR3A are associated with the risk of gout

Protein & Cell, 2017
Zheng Dong, Yuan Li, Jingru Zhou, Shuai Jiang, Yi Wang, Yulin Chen, Dongbao Zhao, Chengde Yang, Qiaoxia Qian, Yanyun Ma, Hongjun He, Hengdong Ji, Yajun Yang, Xiaofeng Wang, Xia Xu, Yafei Pang, Hejian Zou, Li Jin, Feng Zhang, Jiucun Wang   +19 more
doaj   +1 more source

Copy Number Variant Duplications Associated with Essential Tremor. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Medeiros M, Liao C, Dilliott AA, Ross JP, Vuokila V, Aboasali F, Castonguay CE, Spiegelman D, Hopfner F, Vilariño-Güell C, García-Martín E, Alonso-Navarro H, Agúndez JAG, Jiménez-Jiménez FJ, Pastor P, Rajput A, Rajput A, Deuschl G, Kuhlenbäumer G, Girard SL, Farhan SMK, Dion PA, Rouleau GA.   +22 more
europepmc   +1 more source

Somatic copy number variant load in neurons of healthy controls and Alzheimer's disease patients. [PDF]

Acta Neuropathol Commun, 2022
Turan ZG, Richter V, Bochmann J, Parvizi P, Yapar E, Işıldak U, Waterholter SK, Leclere-Turbant S, Son ÇD, Duyckaerts C, Yet İ, Arendt T, Somel M, Ueberham U.   +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

Long‐term hippocampal alterations and cognitive impairment in a murine model of surgical sepsis

FEBS Open Bio, EarlyView.
Using a mouse model of surgical sepsis, we tested long‐term memory and analyzed the transcriptome of single cells isolated from the hippocampus. Survivor mice showed worse memory, loss of certain brain cell subpopulations, and abnormal immune cell activity—suggesting that post‐sepsis brain alterations may be linked to cognitive deficits.
Dong Seong Cho, Rebecca Schmitt, Aneesha Dasgupta, Alexandra Ducharme, Jason Doles   +4 more
wiley   +1 more source

Comprehensive Clinical, Diagnostic, and In Silico Assessment of a Novel 1p36.33p36.32 Copy Number Variant. [PDF]

J Cell Mol Med
Eslahi A, Kahaei MS, Shirvan BB, Alerasool M, Tabarestani S, Rezaie R, Hashemi N, Akhondian J, Arabi M, Ebrahimzadeh F, Toosi MB, Mojarrad M.   +11 more
europepmc   +1 more source

YIPFα1A expression is regulated by multilayered molecular mechanisms

FEBS Open Bio, EarlyView.
YIPFα1A, a five‐pass Golgi protein, is regulated at multiple layers. (1) Rare‐codon enrichment drives translation‐coupled mRNA decay. (2) A proximal 3′‐UTR element stabilizes mRNA. (3) A distal 3′‐UTR element included by alternate poly(A) site usage represses translation, which can be overridden by the proximal 3′‐UTR element.
Tokio Takaji, Yurika Nakanishi, Nobuhiro Nakamura   +2 more
wiley   +1 more source

Genome Sequencing Readily Detects a Copy Number Variant in <i>FBN1</i> in a Patient with Marfan Syndrome. [PDF]

CJC Open
Jean F, Stuart A, Care4Rare Canada Consortium, Marcadier J, Bernier FP, Lamont RE.   +5 more
europepmc   +1 more source