Results 1 to 10 of about 2,522,601 (164)

Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis [PDF]

Molecular Genetics & Genomic Medicine, 2021
Background Congenital insensitivity to pain (CIP) conditions are a group of Mendelian disorders with clinical and genetic heterogeneity. CIP with anhidrosis (CIPA) is a distinct subtype caused by biallelic variants in the NTRK1 gene.
Shang Li, Hua‐ying Hu, Jun‐Jun Xu, Zhan‐ke Feng, Yong‐qing Sun, Xu Chen, Kai Yang, Ya‐zhou Li, Dong‐liang Zhang   +8 more
doaj   +3 more sources

Novel NOTCH2-NTRK1 fusion confers osimertinib resistance in EGFR-mutant non-small cell lung cancer by interacting with EGFR [PDF]

Translational Oncology
Background: Overcoming osimertinib resistance in epidermal growth factor receptor (EGFR) mutant non-small cell lung cancer (NSCLC) is challenging due to unclear mechanisms. We previously reported a NSCLC case with EGFR mutations progressed on osimertinib
Hui Li, Huiting Wei, Tiantian Zhen, Huabin Gao, Huicong Liu, Shuai Zheng, Huijuan Shi, Jiangtao Liang, Fenfen Zhang, Jiecheng Ye, Gengpeng Lin, Anjia Han   +11 more
doaj   +3 more sources

Novel Gross Deletion Mutations in NTRK1 Gene Associated With Congenital Insensitivity to Pain With Anhidrosis [PDF]

Frontiers in Pediatrics, 2021
Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited autosomal recessive disorder characterized by insensitivity to noxious stimuli, anhidrosis, recurrent fever, and intellectual disability.
Lulu Li, Chao Jia, Yue Tang, Yuanyuan Kong, Yaofang Xia, Li Ma   +5 more
doaj   +2 more sources

Not all NTRK fusions in mesenchymal neoplasia are driver events: implications on classification and targeted therapy. [PDF]

J Pathol Clin Res
Abstract NTRK fusions drive the pathogenesis of a distinctive group of mesenchymal neoplasms with significant impact on classification and targeted therapy. However, unexpected NTRK fusions have been reported in other sarcoma entities, raising uncertainty over their specificity and clinical management.
Yakoub MA, Sukhadia P, Saoud C, Hameed M, Antonescu CR.   +4 more
europepmc   +2 more sources

Investigation of a Novel NTRK1 Variation Causing Congenital Insensitivity to Pain With Anhidrosis

Frontiers in Genetics, 2021
Background: Congenital insensitivity to pain with anhidrosis (CIPA), a rare autosomal recessive sensory neuropathy, was caused mainly by biallelic mutations in the NTRK1 gene.
Kai Yang, Yi-Cheng Xu, Hua-Ying Hu, Ya-Zhou Li, Qian Li, Ying-Yi Luan, Yan Liu, Yong-Qing Sun, Zhan-Ke Feng, You-Sheng Yan, Cheng-Hong Yin   +10 more
doaj   +3 more sources

Glioblastoma, IDH-wildtype, with a novel MEF2D-NTRK1 gene fusion: a case report [PDF]

Frontiers in Oncology
A woman, in her mid-50s, presented with headache, confusion, and unstable gait due to a large right parietal mass subsequently diagnosed histologically as glioblastoma, IDH-wildtype, CNS WHO Grade 4 with an unmethylated MGMT promoter.
Anaya Dewey, Joaquina C. Baranda, Joaquina C. Baranda, Wei Zhang, Mohammad Haeri, Brian Milligan, Tolga Tuncer, Tolga Tuncer   +7 more
doaj   +2 more sources

Pan-TRK expression and NTRK gene aberrations in meningiomas: association with tumor grade and proliferative activity. [PDF]

J Pathol Clin Res
Abstract Tropomyosin receptor kinase (TRK) fusions are actionable oncogenic drivers, and pan‐TRK immunohistochemistry (IHC) serves as a reliable screening tool for NTRK gene aberrations. However, the expression profile and clinical significance of pan‐TRK in meningiomas remain unclear.
Zhu Y, Sun M, Lu W, Wang Z, Xi H, Song Y, Xu H, Lin X.   +7 more
europepmc   +2 more sources

RBPMS::NTRK3-rearranged sacral malignant spindle cell tumor in neurofibromatosis diagnosed by RNA sequencing: a case report and literature review [PDF]

Frontiers in Medicine
Malignant spindle cell tumors arising in patients with neurofibromatosis are diagnostically challenging because malignant peripheral nerve sheath tumor (MPNST) and emerging NTRK-rearranged mesenchymal neoplasms may show overlapping clinical, histological,
Chaopeng Chen, Bin Qi, Yuanyuan Miao, Zhujiang Zhuang, Chaowen Wang, Weiping Dai   +5 more
doaj   +2 more sources

NTRK fusions and concomitant immune and genomic landscape detected by DNA and RNA comprehensive genomic profiling in a large healthcare system [PDF]

Frontiers in Medicine
IntroductionThe use of next-generation sequencing (NGS) in clinical investigations has enabled the identification of actionable biomarkers across tumor histologies, paving the way for the development of pan-tumor therapies.
Alexa K. Dowdell, Alexa K. Dowdell, Thomas R. Ward, Lauren T. Hamilton, Lauren T. Hamilton, Roshanthi K. Weerasinghe, Erica Schnettler, Pratheesh Sathyan, Alison Roos, Josiah T. Wagner, John Welle, Ryan C. Meng, Ryan C. Meng, Alexandra Q. Bartlett, Alexandra Q. Bartlett, Carlo B. Bifulco, Carlo B. Bifulco, Brian D. Piening, Brian D. Piening   +18 more
doaj   +2 more sources

Tropomyosin 3 Gene Fusions in Cancers: From Mechanisms to Treatments—A Comprehensive Review [PDF]

Cancer Medicine
Background Tropomyosin 3 (TPM3), one of the four tropomyosin genes, is predominantly expressed in eukaryotic cells. As a crucial regulatory protein, TPM3 associates with actin within thin myofilaments, thereby playing an essential role in the regulation ...
Anjie Chen, Sixin Li, Chen Guo, Chenwei Gu, Jiandong Gui, Yujie Deng, Xichen Feng, Yuanyuan Mi   +7 more
doaj   +2 more sources