Results 91 to 100 of about 36,428 (236)

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

Generation of a TSC2 knockout embryonic stem cell line by CRISPR/Cas9 editing

Stem Cell Research
Tuberous Sclerosis Complex (TSC) is a severe developmental disorder with various clinical effects, primarily caused by TSC2 gene mutations, often involving loss of function(Henske,et al., 2016).To explore role of TSC2 in human heart development, we ...
Siyao Zhang, Jiaqi Fan, Hairui Sun, Xiaoyan Hao, Yihua He   +4 more
doaj   +1 more source

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik, Vered Offen Glasner, Adi Reches, Hadas Miremberg, Karina Krajden Haratz, Tal brill, Liron Malki, Michal Rozenzwaig, Yuval Yaron, Michal Levy   +9 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

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

Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex

BMC Medical Genetics, 2008
Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues.
Dommering Charlotte, Baars Marieke, Maat-Kievit Anneke, Wessels Marja, Adriaans Alwin, Goedbloed Miriam, Sancak Őzgür, Nellist Mark, van den Ouweland Ans, Halley Dicky   +9 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

Carboxy terminal tail of polycystin-1 regulates localization of TSC2 to repress mTOR.

PLoS ONE, 2010
Autosomal dominant polycystic kidney disease (ADPKD) is a commonly inherited renal disorder caused by defects in the PKD1 or PKD2 genes. ADPKD is associated with significant morbidity, and is a major underlying cause of end-stage renal failure (ESRF ...
Ruhee Dere, Patricia D Wilson, Richard N Sandford, Cheryl Lyn Walker   +3 more
doaj   +1 more source

A TSC signaling node at the peroxisome regulates mTORC1 and autophagy in response to ROS [PDF]

, 2014
Subcellular localization is emerging as an important mechanism for mTORC1 regulation. We report that the tuberous sclerosis complex (TSC) signaling node, TSC1, TSC2 and Rheb, localizes to peroxisomes, where it regulates mTORC1 in response to reactive ...
Alexander, Angela, Cai, Shengli, Dere, Ruhee, Di Nardo, Alessia, Dodd, Kayleigh M., Dunlop, Elaine A., Faust, Phyllis L., Folkerth, Rebecca D., Han, Juliette M., Kastan, Michael B., Kim, Jinhee, Kwiatkowski, Erica, Sahin, Mustafa, Tait-Mulder, Jacqueline, Tee, Andrew R., Tripathi, Durga Nand, Walker, Cheryl Lyn, Zhang, Jiangwei   +17 more
core   +1 more source

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