Results 91 to 100 of about 37,863 (256)

Clinical exome performance for reporting secondary genetic findings. [PDF]

, 2014
BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P, Fortina, Paolo, Kricka, Lj, Londin, E, Park, J. Y., Park, Jy, Sponziello, Marialuisa   +6 more
core   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

TSC2 Mutations Were Associated with the Early Recurrence of Patients with HCC Underwent Hepatectomy

Pharmacogenomics and Personalized Medicine, 2021
Kangjian Song, Fu He, Yang Xin, Ge Guan, Junyu Huo, Qingwei Zhu, Ning Fan, Yuan Guo, Yunjin Zang, Liqun Wu Liver Disease Center, The Affiliated Hospital of Qingdao University, Qingdao, 266003, People’s Republic of ChinaCorrespondence: Liqun WuLiver
Song K, He F, Xin Y, Guan G, Huo J, Zhu Q, Fan N, Guo Y, Zang Y, Wu L   +9 more
doaj  

Regulation of mitochondrial biogenesis in erythropoiesis by mTORC1-mediated protein translation. [PDF]

, 2017
Advances in genomic profiling present new challenges of explaining how changes in DNA and RNA are translated into proteins linking genotype to phenotype.
Cao, Hui, Chandel, Navdeep S, DeBerardinis, Ralph J, Dickerson, Kathryn E, Gu, Zhimin, Hu, Zeping, Li, Dan, Li, Mushan, Liu, Xin, Ni, Min, Shao, Zhen, Signer, Robert AJ, Weinberg, Samuel E, Xu, Jian, Zhang, Yuannyu, Zhou, Feng   +15 more
core   +1 more source

Advancing Extracellular Vesicle Research: A Review of Systems Biology and Multiomics Perspectives

PROTEOMICS, EarlyView.
ABSTRACT Extracellular vesicles (EVs) are membrane‐bound vesicles secreted by various cell types into the extracellular space and play a role in intercellular communication. Their molecular cargo varies depending on the cell of origin and its functional state.
Gloria Kemunto, Samaneh Ghadami, Kristen Dellinger   +2 more
wiley   +1 more source

TCS2 Increases Olaquindox-Induced Apoptosis by Upregulation of ROS Production and Downregulation of Autophagy in HEK293 Cells

Molecules, 2017
Olaquindox, a feed additive, has drawn public attention due to its potential mutagenicity, genotoxicity, hepatoxicity and nephrotoxicity. The purpose of this study was to investigate the role of tuberous sclerosis complex (TSC2) pathways in olaquindox ...
Daowen Li, Kena Zhao, Xiayun Yang, Xilong Xiao, Shusheng Tang   +4 more
doaj   +1 more source

mTOR signaling and endometrial receptivity in infertile women with intramural uterine leiomyomas

Middle East Fertility Society Journal, 2023
Background Receptive endometrium is a restraining factor in the establishment of pregnancy in several estrogen-dependent gynecological disorders including uterine leiomyomas. Recently, data are beginning to accrue suggesting negative impact of non-cavity
Annu Makker, Madhu Mati Goel, Dipti Nigam, Isha Makker, Amita Pandey   +4 more
doaj   +1 more source

Phthalate Metabolite, Mono(2‐Ethyl‐5‐Hydroxyhexyl) Phthalate (MEHHP), Promotes Uterine‐Fibroid–Associated Phenotypes in Myometrial Stem Cell‐Derived 3D Organoids

Environmental Toxicology, EarlyView.
ABSTRACT This study investigates how phthalate exposure contributes to uterine fibroid (UF) development by studying the effects of the Mono‐(2‐ethyl‐5‐hydroxyhexyl) phthalate (MEHHP), a metabolite of Di(2‐ethylhexyl) phthalate, on myometrial stem cells (MMSCs).
Somayeh Vafaei, Mervat M. Omran, Qiwei Yang, Sandra Madueke‐Laveaux, Ami R. Zota, Ayman Al‐Hendy, Mohamed Ali   +6 more
wiley   +1 more source

Two Novel Gross Deletions of TSC2 in Malaysian Patients with Tuberous Sclerosis Complex and TSC2/PKD1 Contiguous Deletion Syndrome [PDF]

Japanese Journal of Clinical Oncology, 2014
Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder affecting multiple organs. Tuberous sclerosis complex is caused by mutation in either one of the two disease-causing genes, TSC1 or TSC2, encoding for hamartin and tuberin, respectively.
Nur Farrah Dila, Ismail, Nik Mohd Ariff, Nik Abdul Malik, Jafar, Mohseni, Abdulqawee Mahyoob, Rani, Fatemeh, Hayati, Abdul Razak, Salmi, Mohd Yusof, Narazah, Z A M H, Zabidi-Hussin, Abdul Rashid, Silawati, Wee Teik, Keng, Lock Hock, Ngu, Teguh Haryo, Sasongko   +11 more
openaire   +2 more sources

Non‐canonical PKG1 regulation in cardiovascular health and disease

British Journal of Pharmacology, EarlyView.
It is well established that the cyclic GMP‐dependent protein kinase I (PKG1) is canonically activated by cyclic guanosine monophosphate (cGMP), enabling its regulation of vascular tone, cardiac function and smooth muscle homeostasis. However, diverse non‐canonical stimuli of PKG1 have also been identified.
Jie Su, Joseph Robert Burgoyne
wiley   +1 more source