Results 21 to 30 of about 3,079 (182)

NR2F1 and mTORC1 provide the bridge between melanoma dormancy and therapeutic resistance. [PDF]

J Clin Invest
Cutaneous melanoma (CM) is known for its aggressive behavior, high metastatic potential, and poor prognosis. Mutations in the BRAF gene are common in CM, and patients with BRAF-mutant melanoma often respond well to combined inhibition of BRAF and MEK (BRAFi + MEKi).
Mamidi N, Das SK, Fisher PB.
europepmc   +3 more sources

Second Prenatal Diagnosis of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome in a Fetus With a 5q14.3q15 Deletion: A Case Report and Review of the Literature [PDF]

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT This case demonstrates the value of cell‐free DNA (cfDNA) screening for detecting subchromosomal microdeletions in fetuses with non‐specific prenatal screening abnormalities and no overt structural malformations on ultrasound; CMA and karyotyping confirmation and integrated genetic counseling are essential for diagnosing 5q14.3q15 deletion ...
Ying Hao, Qingfa Huang, Yong Xu, Xingping Li, Peining Li, Weiqing Wu, Bo Wu, Wenlan Liu   +7 more
wiley   +2 more sources

Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome [PDF]

Molecular Genetics & Genomic Medicine, 2020
Background The Bosch‐Boonstra‐Schaaf optic atrophy syndrome (BBSOAS) is an autosomal‐dominant disorder (OMIM615722) mostly characterized by optic atrophy and/or hypoplasia, mild intellectual disability, hypotonia, seizures/infantile epilepsy.
Catia Mio, Federico Fogolari, Laura Pezzoli, Angela V. D’Elia, Maria Iascone, Giuseppe Damante   +5 more
doaj   +2 more sources

The NR2F1-Related 5q14.3–q21.1 deletion causing periventricular heterotopia with cerebral visual impairment: a longitudinal case report and genotype–phenotype analysis [PDF]

Frontiers in Genetics
Large interstitial deletions spanning chromosome 5q14.3 to q21.1 and encompassing NR2F1 are rare. Existing descriptions have largely focused on structural features and presenting manifestations, with fewer reports examining functional neurodevelopmental ...
Helen St Clair Tracy, Gordon N. Dutton, Hildegard Nikki Hall, Andrew Blaikie, Andrew Blaikie   +4 more
doaj   +2 more sources

Transcriptional activation of MACF1 by NR2F1 drives WNT-mediated focal adhesion and metastasis in lung adenocarcinoma [PDF]

European Journal of Medical Research
Objective To investigate the regulatory role of MACF1 and its upstream transcriptional control in focal adhesion remodeling and tumor progression in lung adenocarcinoma (LUAD).
Yi Zhou, Jing Wang, Yangcheng Sun, Qiangyan Zhang, Xiangyu Su   +4 more
doaj   +2 more sources

Structural and Functional Aspects of the Neurodevelopmental Gene NR2F1: From Animal Models to Human Pathology [PDF]

Frontiers in Molecular Neuroscience, 2021
The assembly and maturation of the mammalian brain result from an intricate cascade of highly coordinated developmental events, such as cell proliferation, migration, and differentiation.
Chiara Tocco, Michele Bertacchi, Michèle Studer   +2 more
doaj   +3 more sources

Long non-coding RNA NR2F1-AS1: an increasingly significant LncRNA in human cancers. [PDF]

J Physiol Biochem
Abstract Long non-coding RNAs (lncRNAs), defined as transcripts exceeding 200 nucleotides without protein-coding potential, have emerged as pivotal regulators in diverse physiological and pathological processes, particularly in tumorigenesis. Among them, NR2F1-AS1, a recently characterized lncRNA, has garnered growing attention due to
Yao Q, Zhang X, Chen Y, Lv J, Chen J, Chen D.   +5 more
europepmc   +3 more sources

NR2F1 disrupts synergistic activation of the MTTP gene transcription by HNF-4α and HNF-1α [PDF]

Journal of Lipid Research, 2012
Regulation of microsomal triglyceride transfer protein (MTP) expression mainly occurs at the transcriptional level. We have previously shown that MTTP gene expression was repressed in nondifferentiated intestinal cells by nuclear receptor 2 family 1 ...
Kezhi Dai, M. Mahmood Hussain
doaj   +3 more sources

Autophagy-induced NR2F1 activation promotes the apoptosis of lens epithelial cells and facilitates cataract-associated fibrosis through targeting STAT3 [PDF]

Genes and Diseases
Cataracts, a widely prevalent ocular pathology, engender visual impairment and emerge as a primary etiological factor contributing to ocular blindness. Substantial evidence substantiates that epithelial–mesenchymal transition stands prominently among the
Hangjia Zuo, Xianyang Liu, Bingjing Lv, Ning Gao, Miaomiao Du, Xiang Gao, Yongguo Xiang, Rongxi Huang, Meiting Lin, Yakun Wang, Yonglin Chen, Hong Cheng, Tong Zhang, Shijie Zheng, Wenjuan Wan, Ke Hu   +15 more
doaj   +2 more sources

FGF9–FGFR2 Signaling via Osteocytes‐Preosteoblasts Crosstalks to Mediate Mechanotransduction‐Driven Intramembranous Osteogenesis in the Underdeveloped Maxilla [PDF]

Advanced Science, Volume 12, Issue 44, November 27, 2025.
This study identifies osteocyte‐derived FGF9 as a mechanosensitive factor that impairs osteogenesis in the underdeveloped maxilla by inducing FGFR2 nuclear translocation in preosteoblasts. Mechanical stimulation reduces FGF9 secretion, relieving its inhibitory effect. These findings reveal a novel osteocyte–preosteoblast FGF9–FGFR2 axis in craniofacial
Yiwen Zhou, Lili Chen, Miaomiao Han, Peixiang Zhu, Yanyi Wang, Xuanxuan Yu, Tingyu Reng, Huijuan Wang, Baochao Li, Caixia Zhang, Ziwei Huang, Shuang Lin, Guoyun Wang, Jie Ge, Baosheng Guo, Huang Li   +15 more
wiley   +2 more sources