Results 11 to 20 of about 16,426 (214)

The archetypal R90C CADASIL–NOTCH3 mutation retains NOTCH3 function in vivo [PDF]

Human Molecular Genetics, 2007
Cerebral Autosomal Dominant Arteriopathy with Subcortical infarcts and Leukoencephalopathy (CADASIL) is the most prominent known cause of inherited stroke and vascular dementia in human adult. The disease gene, NOTCH3, encodes a transmembrane receptor primarily expressed in arterial smooth muscle cells (SMC).
Monet, M, Domenga, V, Lemaire, B, Souilhol, C, Langa, F, Babinet, C, Gridley, T, Tournier, Lasserve E, Cohen, Tannoudji M, Joutel, A   +9 more
openaire   +3 more sources

Notch3 and the Notch3‐upregulated RNA‐binding protein HuD regulate Ikaros alternative splicing [PDF]

The EMBO Journal, 2007
Constitutive activation of the transmembrane receptor, Notch3, and loss of function of the hematopoietic transcription repressor, Ikaros (IK), play direct roles in T-cell differentiation and leukemogenesis that are dependent on pre-T-cell receptor (pre-TCR) signaling.
BELLAVIA, Diana, Marco Mecarozzi, CAMPESE, Antonio Francesco, GRAZIOLI, PAOLA, TALORA, Claudio, FRATI, Luigi, GULINO, Alberto, SCREPANTI, Isabella   +7 more
openaire   +4 more sources

Notch3 Pathway Alterations in Ovarian Cancer [PDF]

Cancer Research, 2014
Abstract The Notch pathway plays an important role in the growth of high-grade serous ovarian (HGS-OvCa) and other cancers, but its clinical and biologic mechanisms are not well understood. Here, we found that the Notch pathway alterations are prevalent and significantly related to poor clinical outcome in patients with ovarian cancer.
Hu, Wei, Liu, Tao, Ivan, Cristina, Sun, Yunjie, Huang, Jie, Mangala, Lingegowda S., Miyake, Takahito, Dalton, Heather J., Pradeep, Sunila, Rupaimoole, Rajesh, Previs, Rebecca A., Han, Hee Dong, Bottsford-Miller, Justin, Zand, Behrouz, Kang, Yu, Pecot, Chad V., Nick, Alpa M., Wu, Sherry Y., Lee, Ju-Seog, Sehgal, Vasudha, Ram, Prahlad, Liu, Jinsong, Tucker, Susan L., Lopez-Berestein, Gabriel, Baggerly, Keith A., Coleman, Robert L., Sood, Anil K.   +26 more
openaire   +7 more sources

NOTCH3 Variants in Patients with Suspected CADASIL

Annals of Indian Academy of Neurology, 2023
Abstract Background: Cerebral autosomal dominant arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL) is the most common hereditary form of cerebral small vessel disease. It is clinically, radiologically, and genetically heterogeneous and is caused by NOTCH3 mutations.
Taskapilioglu, Ozlem, Kabay, Sibel C., Tepe, Nermin, Ali, Asuman, Sivaci, Ali O., Seferoglu, Meral, Topak, Ali, Gorukmez, Ozlem, Gorukmez, Orhan   +8 more
openaire   +6 more sources

The Role of Notch3 in Cancer [PDF]

The Oncologist, 2018
Abstract The Notch family is a highly conserved gene group that regulates cell-cell interaction, embryogenesis, and tissue commitment. This review article focuses on the third Notch family subtype, Notch3. Regulation via Notch3 signaling was first implicated in vasculogenesis.
Zviadi, Aburjania, Samuel, Jang, Jason, Whitt, Renata, Jaskula-Stzul, Herbert, Chen, J Bart, Rose   +5 more
openaire   +3 more sources

NOTCH3 and Pulmonary Arterial Hypertension

International Journal of Molecular Sciences
NOTCH3 receptor signaling has been linked to the regulation of smooth muscle cell proliferation and the maintenance of smooth muscle cells in an undifferentiated state. Pulmonary arterial hypertension (World Health Organization Group 1 idiopathic disease: PAH) is a fatal disease characterized clinically by elevated pulmonary vascular resistance caused ...
Nolan M. Winicki, Cristian Puerta, Casandra E. Besse, Yu Zhang, Patricia A. Thistlethwaite   +4 more
openaire   +3 more sources

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy [PDF]

EMBO Molecular Medicine, 2015
Notch signaling is essential for vascular physiology. Neomorphic heterozygous mutations in NOTCH3, one of the four human NOTCH receptors, cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL ...
Tommaso Pippucci, Alessandra Maresca, Pamela Magini, Giovanna Cenacchi, Vincenzo Donadio, Flavia Palombo, Valentina Papa, Alex Incensi, Giuseppe Gasparre, Maria Lucia Valentino, Carmela Preziuso, Annalinda Pisano, Michele Ragno, Rocco Liguori, Carla Giordano, Caterina Tonon, Raffaele Lodi, Antonia Parmeggiani, Valerio Carelli, Marco Seri   +19 more
doaj   +2 more sources

Notch3 and Its Clinical Importance in Ovarian Cancer

Drugs and Drug Candidates
Background: Ovarian cancer (OC) is the most prevalent gynecological malignancy in women, often diagnosed at an advanced stage due to the absence of specific clinical biomarkers.
Bimal Prasad Jit, Alisha Behera, Sahar Qazi, Khushi Mittal, Subhadip Kundu, Babul Bansal, MD Ray, Ashok Sharma   +7 more
doaj   +2 more sources

Regulation of pancreatic stellate cell activation by Notch3

BMC Cancer, 2018
Background Activated pancreatic stellate cells (PaSCs) are the key cellular source of cancer-associated fibroblasts in the pancreatic stroma of patients with pancreatic ductal adenocarcinoma (PDAC), however, the activation mechanism of PaSCs is not yet ...
Haiyan Song, Yuxiang Zhang
doaj   +2 more sources

Association of imaging-defined brain age with disease severity and adverse outcomes in CADASIL. [PDF]

Alzheimers Dement
Abstract INTRODUCTION Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by cysteine‐altering NOTCH3 variants. We examined whether neuroimaging‐defined brain age is altered in CADASIL and its association with disease severity and outcomes.
Hsu SL, Lee PL, Chou KH, Kuo CY, Lin CP, Liao YC, Chung CP, Lee YC.   +7 more
europepmc   +2 more sources