Results 91 to 100 of about 122,027 (274)

Analysis of mutations in CDC27, CTBP2, HYDIN and KMT5A genes in carotid paragangliomas

Вавиловский журнал генетики и селекции, 2018
Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors that arise from paraganglionic tissue of the carotid body localizing at the bifurcation of carotid artery.
E. N. Lukyanova, A. V. Snezhkina, D. V. Kalinin, A. V. Pokrovsky, A. L. Golovyuk, O. A. Stepanov, E. A. Pudova, G. S. Razmakhaev, M. V. Orlova, A. P. Polyakov, M. V. Kiseleva, A. D. Kaprin, A. V. Kudryavtseva   +12 more
doaj   +1 more source

Multivariate Functional Regression Models for Epistasis Analysis [PDF]

arXiv, 2015
To date, most genetic analyses of phenotypes have focused on analyzing single traits or, analyzing each phenotype independently. However, joint epistasis analysis of multiple complementary traits will increase statistical power, and hold the key to understanding the complicated genetic structure of the complex diseases.
arxiv  

Phase 1, First‐In‐Human, Single‐/Multiple‐Ascending Dose Study of Iluzanebart in Healthy Volunteers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of iluzanebart, a fully human monoclonal antibody TREM2 (triggering receptor expressed on myeloid cells 2) agonist, after single‐ (SAD) and multiple‐ascending‐dose (MAD) administration.
Andreas Meier, Spyros Papapetropoulos, Andrew Marsh, Kelly Neelon, David Stiles, Ryan O'Mara, Evan A. Thackaberry, Marco Colonna, Raj Rajagovindan   +8 more
wiley   +1 more source

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases

The Application of Clinical Genetics, 2018
Thaise NR Carneiro,1 Ana CV Krepischi,1 Silvia S Costa,1 Israel Tojal da Silva,2 Angela M Vianna-Morgante,1 Renan Valieris,2 Suzana AM Ezquina,1 Debora R Bertola,3 Paulo A Otto,1 Carla Rosenberg1 1Human Genome and Stem-Cell Research Center, Department of
Carneiro TNR, Krepischi ACV, Costa SS, Tojal da Silva I, Vianna-Morgante AM, Valieris R, Ezquina SAM, Bertola DR, Otto PA, Rosenberg C   +9 more
doaj  

Genetic Variants Associated with Hypertension Risk: Progress and Implications

Pulse
Background: Genetic variants causing diseases with hypertension as a secondary feature have previously been identified. Studies focussing on primary hypertension have utilised common and latterly rare genetic variants in attempts to elucidate the genetic
David Curtis
doaj   +1 more source

Cardiac Organoid Model Inspired Micro‐Robot Smart Patch to Treat Myocardial Infarction

Advanced Materials, EarlyView.
The heart organoid model exhibits the acidic microenvironment characteristic of myocardial infarction, which emerges as a pivotal force propelling the movement of micro‐robots. These micro‐robots, administered through microneedles, can penetrate deep into the tissue, effectively delivering therapeutic payloads to facilitate heart repair.
Fangfang Wang, Zilu Xu, Feiyang Zheng, Dongcheng Yang, Kaige Xu, Ming Ke, Xiao Zhou, Xiaohan Zhang, Ju Tan, Yong Liu, Yansha Hao, Malcolm Xing, Chuhong Zhu   +12 more
wiley   +1 more source

Loss of Golga7 Suppresses Oncogenic Nras‐Driven Leukemogenesis without Detectable Toxicity in Adult Mice

Advanced Science, EarlyView.
NRAS mutations are widespread in hematologic malignancies. Our study shows that GOLGA7 serves as a safe and effective therapeutic target for NRAS‐driven leukemia. Loss of Golga7 in adult mice effectively suppresses NrasG12D‐driven myeloproliferative neoplasm by disrupting its PM localization and impairing subsequent MAPK signaling, without affecting ...
Bo Jiao, Lei Yan, Rui Zhang, Wei Huang, Xinru Wang, Chenxuan Liu, Peihong Wang, Pengfei Xu, Jinzeng Wang, Zhou Fang, Donghe Li, Zhizhou Xia, Jiaoyang Li, Shiyu Ji, Qianqian Zhang, Min Wu, Shengyue Wang, Ping Liu, Ruibao Ren   +18 more
wiley   +1 more source

Interim results of selective screening using whole exome sequencing in newborns

Acta Biomedica Scientifica
Background. Evaluation of hereditary diseases is a difficult task due to the large number of nosologic forms, rare occurrence of each disease, which can lead to a long diagnostic search for the patient.
G. P. Bogonosova, O. V. Bugun, S. V. Ionushene, T. A. Astakhova, I. M. Golobkova, A. A. Dokshukina, Je. Shubina, T. A. Bairova, D. N. Degtyarev, D. Yu. Trofimov, L. V. Rychkova, N. N. Martynovich, O. G. Ivanova, M. I. Kononenko, V. O. Kolodina, N. N. Kuznetsova, M. R. Akhmedzyanova   +16 more
doaj   +1 more source

Exome-chip meta-analysis identifies association between variation in ANKRD26 and platelet aggregation

Platelets, 2019
Previous genome-wide association studies (GWAS) have identified several variants associated with platelet function phenotypes; however, the proportion of variance explained by the identified variants is mostly small.
Ming-Huei Chen, Lisa R. Yanek, Joshua D. Backman, John D. Eicher, Jennifer E. Huffman, Yoav Ben-Shlomo, Andrew D. Beswick, Laura M. Yerges-Armstrong, Alan R. Shuldiner, Jeffrey R. O’Connell, Rasika A. Mathias, Diane M. Becker, Lewis C. Becker, Joshua P. Lewis, Andrew D. Johnson, Nauder Faraday   +15 more
doaj   +1 more source

Favoriser l'autonomie du patient face aux données additionnelles en médecine génomique

Canadian Journal of Bioethics, 2019
Depuis ces dernières années, nous assistons à une révolution technologique en génétique moléculaire avec l’avènement du séquençage de nouvelle génération (NGS).
Guillaume Durand, Manon Guillet, Sandra Mercier   +2 more
doaj   +1 more source