Results 21 to 30 of about 12,023 (208)

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

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   +1 more source

Targeted next-generation sequencing of dedifferentiated chondrosarcoma in the skull base reveals combined TP53 and PTEN mutations with increased proliferation index, an implication for pathogenesis [PDF]

, 2016
Dedifferentiated chondrosarcoma (DDCS) is a rare disease with a dismal prognosis. DDCS consists of two morphologically distinct components: the cartilaginous and noncartilaginous components.
Cao, Dengfeng, Chen, Rongrong, Chen, Xi, DeLaney, Thomas F, Gao, Lu, Gao, Xiaohuan, Gong, Xinqi, Guo, Xiaopeng, Hong, Xiafei, Ni, Jianjiao, Tian, Pangzehuan, Wang, Renzhi, Xing, Bing, Yao, Yong   +13 more
core   +2 more sources

Simultaneous detection of lung fusions using a multiplex RT-PCR next generation sequencing-based approach:A multi-institutional research study [PDF]

, 2018
Contains fulltext : 195300.pdf (publisher's version ) (Open ...
A Marchetti, A Uguen, A Vaishnavi, AK Virmani, Aldo Scarpa, Alexander Boag, Andrea Mafficini, Anna Maria Rachiglio, Anne Reiman, Astrid Hirschmann, Bastiaan Tops, Cancer Genome Atlas Research N, Cecily P. Vaughn, D Matsubara, Delphine Le Corre, E Ardini, F Li, Federica Zito Marino, Harriet E. Feilotter, Henriette M. Kurth, Hélène Blons, Ian A. Cree, JF Gainor, José Carlos Machado, José Luis Costa, JP Koivunen, K Rikova, K Takeuchi, Kazuko Sakai, Kazuto Nishio, KD Davies, Kelli Bramlett, KF To, L Ding, L Tembuyser, LM Sholl, M Soda, Marjolijn J. L. Ligtenberg, ME Lira, Michel Bihl, ML Wallander, N Pfarr, Nicola Normanno, Orla Sheils, Pierre Laurent-Puig, RM Phelps, Rosella Petraroli, Roy R. L. Bastien, S Scarpino, SM Ali, Susan Crocker, T Kohno, Varun Bagai, X Gao, Y Pan, Z Dai   +55 more
core   +10 more sources

Lapatinib potentiates cytotoxicity of YM155 in neuroblastoma via inhibition of the ABCB1 efflux transporter [PDF]

, 1967
Adverse side effects of cancer agents are of great concern in the context of childhood tumors where they can reduce the quality of life in young patients and cause life-long adverse effects.
Brunak, Søren, Halasz, Melinda, Huber, Kilian V.M., Kolch, Walter, Papamarkou, Theodore, Radic-Sarikas, Branka, Superti-Furga, Giulio, Tsafou, Kalliopi P., Winter, Georg E.   +8 more
core   +3 more sources

Inhibition of MEK1/2 Forestalls the Onset of Acquired Resistance to Entrectinib in Multiple Models of NTRK1-Driven Cancer

Cell Reports, 2020
Summary: NTRK1 gene fusions are actionable drivers of numerous human malignancies. Here, we show that expression of the TPR-NTRK1 fusion kinase in immortalized mouse pancreatic ductal epithelial (IMPE) (pancreas) or mouse lung epithelial (MLE-12) cells ...
Aria Vaishnavi, Michael T. Scherzer, Conan G. Kinsey, Gennie L. Parkman, Amanda Truong, Phaedra Ghazi, Sophia Schuman, Benjamin Battistone, Ignacio Garrido-Laguna, Martin McMahon   +9 more
doaj   +1 more source

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

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   +1 more source

BAC-FISH assays delineate complex chromosomal rearrangements in a case of post-Chernobyl childhood thyroid cancer [PDF]

, 2009
Structural chromosome aberrations are known hallmarks of many solid tumors. In the papillary form of thyroid cancer (PTC), for example, activation of the receptor tyrosine kinase (RTK) genes, RET and neurotrophic tyrosine kinase receptor type I (NTRK1)
Baumgartner, Adolf, Kwan, Johnson, Lu, Chun-Mei, Wang, Mei, Weier, Heinz-Ulrich G., Weier, Jingly F., Zitzelsberger, Horst F.   +6 more
core   +2 more sources

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. [PDF]

, 2016
BACKGROUND: Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors.
Ahmed, Mushtaq, Bennett, Christopher, Chen, Ya-Chun, Sharif, Saghira Malik, Sheridan, Eamonn, Valente, Enza-Maria, Woods, Geoffrey, Zhang, Stella   +7 more
core   +3 more sources

Cytoplasmic TrkA Expression as a Screen for Detecting NTRK1 Fusions in Colorectal Cancer

Translational Oncology, 2018
NTRK1 gene fusions, the targets of multikinase inhibitors, are promising therapeutic targets for colorectal cancer (CRC). However, screening methods for detecting NTRK1 gene fusions in CRC tissues have not been reported.
Yuri Choi, Yeo-Jin Won, Sojeong Lee, Ahrong Kim, Younggeum Kim, Won-Young Park, Hong-Jae Jo, Geun Am Song, Chae Hwa Kwon, Do Youn Park   +9 more
doaj   +1 more source

Oral and craniofacial manifestations and two novel missense mutations of the NTRK1 gene identified in the patient with congenital insensitivity to pain with anhidrosis. [PDF]

PLoS ONE, 2013
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited disorder of the peripheral nervous system resulting from mutations in neurotrophic tyrosine kinase receptor 1 gene (NTRK1), which encodes the high-affinity nerve growth factor ...
Li Gao, Hao Guo, Nan Ye, Yudi Bai, Xin Liu, Ping Yu, Yang Xue, Shufang Ma, Kewen Wei, Yan Jin, Lingying Wen, Kun Xuan   +11 more
doaj   +1 more source