Results 41 to 50 of about 2,141 (173)

Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas [PDF]

Journal of Clinical Investigation, 2016
Autonomous thyroid adenomas (ATAs) are a frequent cause of hyperthyroidism. Mutations in the genes encoding the TSH receptor (TSHR) or the Gs protein alpha subunit (GNAS) are found in approximately 70% of ATAs.
Bathon, Kerstin, Bircan, Rifat, Calebiro, Davide, Eszlinger, Markus, Godbole, Amod, Grassi, Elisa S., Paschke, Ralf, Ronchi, Cristina L.   +7 more
core   +2 more sources

Author response: A sex-specific evolutionary interaction between ADCY9 and CETP

, 2021
Isabel Gamache, Marc‐André Legault, Jean‐Christophe Grenier, Rocío Sánchez, Éric Rhéaume, Samira Asgari, Amina Barhdadi, Yassamin Feroz Zada, Holly Trochet, Yang Luo, Leonid Lecca, M M Murray, Soumya Raychaudhuri, Jean‐Claude Tardif, Marie‐Pierre Dubé, Julie Hussin   +15 more
openalex   +2 more sources

Defective BVES-mediated feedback control of cAMP in muscular dystrophy. [PDF]

Nat Commun, 2023
cAMP is an important second messenger involved in many aspects of biological processes. Here, Li et al. shows that blood vessel epicardial substance (BVES) is a negative regulator of cAMP signaling required for maintaining muscle mass and function ...
Li H, Wang P, Zhang C, Zuo Y, Zhou Y, Han R.   +5 more
europepmc   +2 more sources

Gene-Smoking Interaction Analysis for the Identification of Novel Asthma-Associated Genetic Factors. [PDF]

Int J Mol Sci, 2023
Asthma is a complex heterogeneous disease caused by gene–environment interactions. Although numerous genome-wide association studies have been conducted, these interactions have not been systemically investigated.
Cha J, Choi S.
europepmc   +2 more sources

Pharmacogenetics-guided dalcetrapib therapy after an acute coronary syndrome: the dal-GenE trial. [PDF]

Eur Heart J, 2022
Aims In a retrospective analysis of dal-Outcomes, the effect of dalcetrapib on cardiovascular events was influenced by an adenylate cyclase type 9 (ADCY9) gene polymorphism.
Tardif JC, Pfeffer MA, Kouz S, Koenig W, Maggioni AP, McMurray JJV, Mooser V, Waters DD, Grégoire JC, L'Allier PL, Wouter Jukema J, White HD, Heinonen T, Black DM, Laghrissi-Thode F, Levesque S, Guertin MC, Dubé MP, dal-GenE Investigators.   +18 more
europepmc   +2 more sources

Serum miR-329-3p as a potential biomarker for poor ovarian response in an in vitro fertilization. [PDF]

Clin Exp Reprod Med
Objective Several miRNAs have been identified as differentially expressed in patients with poor ovarian response (POR) compared to those with normal responses. This study aims to assess the potential of serum miR-329-3p as a biomarker for diagnosing POR.
Kim JH, Kim HO, Lee SY, Park EA, Choi KH, Kang K, Yu EJ, Koong MK, Lee KA.   +8 more
europepmc   +2 more sources

Understanding and controlling asthma in Latin America: A review of recent research informed by the SCAALA programme

Clinical and Translational Allergy, Volume 13, Issue 3, March 2023., 2023
Abstract Asthma is an important health concern in Latin America (LA) where it is associated with variable prevalence and disease burden between countries. High prevalence and morbidity have been observed in some regions, particularly marginalized urban populations.
Philip J. Cooper, Camila A. Figueiredo, Alejandro Rodriguez, Leticia Marques dos Santos, Rita C. Ribeiro‐Silva, Valdirene Leao Carneiro, Gustavo Costa, Thiago Magalhães, Talita dos Santos de Jesus, Raimon Rios, Hugo Bernardino F. da Silva, Ryan Costa, Martha E. Chico, Maritza Vaca, Neuza Alcantara‐Neves, Laura C Rodrigues, Alvaro A. Cruz, Mauricio L. Barreto   +17 more
wiley   +1 more source

Melanoma-specific mutation hotspots in distal, non-coding, promoter-interacting regions implicate novel candidate driver genes. [PDF]

Br J Cancer
Investigations of the non-coding region are essential for uncovering the full spectrum of genetic drivers in melanoma. Here, we map distal, non-coding, promoter-interacting regulatory elements using Hi-C data from melanoma cells and integrating these ...
Pudjihartono M, Pudjihartono N, O'Sullivan JM, Schierding W.   +3 more
europepmc   +2 more sources

Single‐nucleus RNA and ATAC sequencing uncovers the molecular and cellular characteristics in the musk gland of Chinese forest musk deer (Moschus berezovskii)

The FASEB Journal, Volume 37, Issue 2, February 2023., 2023
Abstract The Chinese forest musk deer (FMD; Moschus berezovskii) is an endangered artiodactyl mammal. Musk secreted by the musk gland of male has extremely high economic and medicinal value. However, the molecular and cellular characteristics of the musk gland have not been studied. Here, we investigated the diversity and transcriptional composition of
Chenmiao Liu, Tingting Hong, Lin Yu, Yuan Chen, Shuhui Wang, Zhanjun Ren   +5 more
wiley   +1 more source

Melatonin Alleviates the Suppressive Effect of Hypoxanthine on Oocyte Nuclear Maturation and Restores Meiosis via the Melatonin Receptor 1 (MT1)-Mediated Pathway

Frontiers in Cell and Developmental Biology, 2021
It is well known that hypoxanthine (HX) inhibits nuclear maturation of oocytes by elevating the intracellular cAMP level, while melatonin (MT) is a molecule that reduces cAMP production, which may physiologically antagonize this inhibition and restore ...
Jing Wang, Zhiyong Zhuo, Zhiyong Zhuo, Xiao Ma, Yunjie Liu, Jing Xu, Changjiu He, Yao Fu, Feng Wang, Pengyun Ji, Lu Zhang, Guoshi Liu   +11 more
doaj   +1 more source