Results 71 to 80 of about 305,564 (250)

Gene mutations in sporadic lymphangioleiomyomatosis and genotype–phenotype correlation analysis

BMC Pulmonary Medicine, 2022
Background Sporadic lymphangioleiomyomatosis (S-LAM) is a rare neoplasm with heterogeneous clinical features that is conventionally considered to be related to TSC2.
Jiannan Huang, Wenshuai Xu, Peng Liu, Yaping Liu, Cheng Shen, Song Liu, Yani Wang, Jun Wang, Tengyue Zhang, Yudi He, Chongsheng Cheng, Luning Yang, Weihong Zhang, Xinlun Tian, Kai-Feng Xu   +14 more
doaj   +1 more source

New era of cystic fibrosis: full mutational analysis and personalized therapy [PDF]

, 2017
Despite its apparently simple genetics, cystic fibrosis (CF) is a rather complex genetic disease. A lot of variability in the steps of the path from the cystic fibrosis transmembrane conductance regulator (CFTR ) gene to the clinical manifestations ...
Lucarelli, Marco
core   +1 more source

Optimizing photoactivation of PA‐mCherry for optical pooled CRISPR screens

FEBS Open Bio, EarlyView.
Photoactivatable PA‐mCherry finds widespread use to optically tag individual cells. However, confocal 405 nm UV laser‐scanning (normal scan) is much less efficient than widefield UV illumination, limiting the use of PA‐mCherry on confocal instruments. We remedy this limitation by reporting that rapid and repeated confocal scanning with a low‐intensity,
Sravasti Mukherjee, Giulia Zanetti, Bram van den Broek, Kees Jalink   +3 more
wiley   +1 more source

Variant‐Specific Late Gadolinium Enhancement Patterns Influence Clinical Outcomes in LMNA‐Related Cardiomyopathy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Disease‐causative variants in LMNA‐encoded lamin A/C cause a genetic cardiomyopathy characterized by atrioventricular block, atrial fibrillation, ventricular arrhythmias, and systolic dysfunction.
Matteo Castrichini, Ramin Garmany, Konstantinos C. Siontis, Jeremy D. Collins, John P. Bois, Naveen L. Pereira, David J. Tester, Martina Gluscevic, Trung Huynh, Raquel Neves, Andrew N. Rosenbaum, Michael J. Ackerman, John R. Giudicessi   +12 more
doaj   +1 more source

Genetic variation in the SIM1 locus is associated with erectile dysfunction. [PDF]

, 2018
Erectile dysfunction affects millions of men worldwide. Twin studies support the role of genetic risk factors underlying erectile dysfunction, but no specific genetic variants have been identified. We conducted a large-scale genome-wide association study
Ahituv, Nadav, Hoffmann, Thomas J, Hotaling, James M, Jarvik, Gail P, Jorgenson, Eric, Matharu, Navneet, Palmer, Melody R, Shan, Jun, Thai, Khanh K, Van Den Eeden, Stephen K, Wessells, Hunter, Yin, Jie, Zhou, Xujia   +12 more
core  

Causal graphical models in systems genetics: A unified framework for joint inference of causal network and genetic architecture for correlated phenotypes [PDF]

, 2009
Causal inference approaches in systems genetics exploit quantitative trait loci (QTL) genotypes to infer causal relationships among phenotypes. The genetic architecture of each phenotype may be complex, and poorly estimated genetic architectures may ...
Attie, Alan D., Keller, Mark P., Neto, Elias Chaibub, Yandell, Brian S.   +3 more
core   +3 more sources

Cyclic azapeptide CD36 ligand attenuates cardiac injury and reduces long‐chain fatty acid accumulation after myocardial ischemia–reperfusion in mice

FEBS Open Bio, EarlyView.
In a murine model of myocardial ischemia and reperfusion (MI/R), the CD36 azapeptide ligand MPE‐298 reduces cardiac injury and transiently lowers left ventricular long‐chain fatty acids (LCFAs) accumulation 3 h after reperfusion, accompanied by a decrease of oxidative stress and inflammation‐associated genes' expression in the heart and adipose tissue.
Jade Gauvin, Naghme Radmannia, David N. Huynh, Liliane Ménard, Caroline Daneault, Maïté Veilleux, Ahsanullah Ahsanullah, André C. Carpentier, William D. Lubell, Matthieu Ruiz, Huy Ong, Sylvie Marleau, Simon‐Pierre Gravel   +12 more
wiley   +1 more source

Directed evolution of enzymes at the crossroads of tradition and innovation

FEBS Open Bio, EarlyView.
An iterative cycle of data‐driven enzyme optimization comprising four stages: genetic diversification of a template enzyme, expression of protein variants, high‐throughput evaluation, and machine‐learning‐guided redesign of the next variant library.
Maria Tomkova, Andrej Mirossay, Erik Sedlak   +2 more
wiley   +1 more source

A large French family with TGFBR2 pathogenic variant: illustration of variability

Orphanet Journal of Rare Diseases
Aims To report aortic events in a large family carrying a variant in the TGFBR2 gene. Methods Since 1990 up to 2024, we have conducted a longitudinal clinical study of a large single family comprising 63 members across four generations who carry the same
Ludivine Eliahou, Olivier Milleron, Skerdi Haviari, Florence Arnoult, Nadine Hanna, Pauline Arnaud, Fadima Toure, Sabrine Jadoui, Arienne Mirmiran, Catherine Boileau, Guillaume Jondeau   +10 more
doaj   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source