Results 111 to 120 of about 6,777,214 (229)

Single-Cell RNA-seq Reveals Profound Alterations in Mechanosensitive Dorsal Root Ganglion Neurons with Vitamin E Deficiency. [PDF]

, 2019
Ninety percent of Americans consume less than the estimated average requirements of dietary vitamin E (vitE). Severe vitE deficiency due to genetic mutations in the tocopherol transfer protein (TTPA) in humans results in ataxia with vitE deficiency (AVED)
Bordbari, Matthew H, Durbin-Johnson, Blythe, Finno, Carrie J, Kang, Mincheol, Lee, Jeong H, Park, Seojin, Perez-Flores, Maria C, Peterson, Janel, Settles, Matthew, Yamoah, Ebenezer N   +9 more
core  

Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine [PDF]

, 2017
BACKGROUND: Human Phenotype Ontology (HPO) has risen as a useful tool for precision medicine by providing a standardized vocabulary of phenotypic abnormalities to describe presentations of human pathologies; however, there have been relatively few ...
Fang, H., Jimenez-Barron, L. T., Lyon, G. J., Mittelman, D., Robison, R., Wang, K., Wu, Y., Yang, H., Yoon, M.   +8 more
core   +1 more source

Malignancy Risk, Molecular Mutations, and Surgical Outcomes of Thyroid Nodules Classified as Atypia of Undetermined Significance in the Bethesda System: A Comprehensive Analysis

Cytopathology, Volume 37, Issue 1, Page 66-75, January 2026.
This study investigates the correlation between AUS subcategories, molecular mutations, and surgical outcomes in thyroid nodules classified as atypia of undetermined significance (AUS) under the Bethesda System for Reporting Thyroid Cytopathology.
Caroline Bourque, Gianluca Savoia, Maxine Noik, Livia Florianova, Saruchi Bandargal, Sabrina Daniela da Silva, Richard Payne, Marc Philippe Pusztaszeri   +7 more
wiley   +1 more source

NTRK amplification occurs frequently in pan-TRK immunopositive dedifferentiated liposarcomas

Pathology and Oncology Research
The neurotrophic tyrosine kinase receptor (NTRK) gene family is of rising importance as their fusions are oncogenic, and specific target drugs are available to inhibit the chimera proteins.
Zoltán Lippai, Gergő Papp, Károly Szuhai, Johanna Sápi, Katalin Dezső, Zoltán Sápi   +5 more
doaj   +1 more source

Larotrectinib efficacy and safety in TRK fusion cancer: An expanded clinical dataset showing consistency in an age and tumor agnostic approach [PDF]

, 2018
Background: TRK fusion cancer results from gene fusions involving NTRK1, NTRK2 or NTRK3. Larotrectinib, the first selective TRK inhibitor, has demonstrated an overall response rate (ORR) of 75% with a favorable safety profile in the first 55 ...
Albert, C. M., Berlin, J. D., Bielack, S. S., Cox, M. C., Cruickshank, S., Doz, F., Drilon, A., Dubois, S. G., Federman, N., Geoerger, B., Hong, D. S., Ku, N. C., Kummar, S., Lassen, U. N., Mascarenhas, L., McDermott, R., Oh, D. Y., Schilder, R. J., Tan, D. S., van Tilburg, C. M.   +19 more
core   +1 more source

A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development [PDF]

, 2015
Congenital inability to feel pain is very rare but the identification of causative genes has yielded significant insights into pain pathways and also novel targets for pain treatment.
Al-Gazali, Lihadh, Benn, Caroline L., Borner, Georg H. H., Carvalho, Ofélia P., Chen, Ya-Chun, Hertecant, Jozef, Nahorski, Michael S., Owen, David J., Phelan, Anne, Robinson, Margaret S., Royle, Stephen J., Shaikh, Samiha S., Woods, C. Geoffrey   +12 more
core   +2 more sources

A CLIP on the Ear: Spitz Melanocytoma Harbouring a CLIP2-BRAF Gene Fusion

Case Reports in Dermatological Medicine, Volume 2026, Issue 1, 2026.
Spitzoid lesions represent one of the most challenging areas in melanocytic pathology. Many such lesions are characterised by key gene alterations including ALK, ROS and NTRK fusions. BRAF mutations are generally considered incompatible with the diagnosis of Spitz tumours. Here, we present the case of a spitzoid melanocytoma harbouring a rare BRAF gene
Karwan A. Moutasim, Mohammed Atweh, Jeffery M. Theaker, Pedro Rodriguez Jimenez   +3 more
wiley   +1 more source

Prevalence of established and emerging biomarkers of immune checkpoint inhibitor response in advanced hepatocellular carcinoma. [PDF]

, 2019
The clinical deployment of immune checkpoint inhibitors (ICIs) has created a tandem drive for the identification of biomarkers linked to benefit. Comprehensive genomic profiling was performed to evaluate the frequency of genomic biomarkers of ICI ...
Ali, Siraj M, Ang, Celina, Fabrizio, David, Goodman, Aaron, Klempner, Samuel J, Kurzrock, Razelle, Madison, Russell, Millis, Sherri Z, Ross, Jeffrey S, Severson, Eric A, Suh, James   +10 more
core   +1 more source

Prevalence of neurotrophic tropomyosin receptor kinase (NTRK) fusion gene positivity in patients with solid tumors in Japan

Cancer Medicine
Background Members of the neurotrophic tropomyosin receptor kinase (NTRK) gene family, NTRK1, NTRK2, and NTRK3 encode TRK receptor tyrosine kinases. Intra‐ or inter‐chromosomal gene rearrangements produce NTRK gene fusions encoding fusion proteins which ...
Eiji Nakata, Tatsunori Osone, Toru Ogawa, Tomoyuki Taguchi, Kana Hattori, Shinji Kohsaka   +5 more
doaj   +1 more source

Molecular genetic characterization reveals linear tumor evolution in a pulmonary sarcomatoid carcinomas patient with a novel PHF20-NTRK1 fusion: a case report

BMC Cancer, 2019
Background Pulmonary sarcomatoid carcinoma (SC) consists of both carcinomatous and sarcomatous tumors with high degree of malignancy, rapid progression, and poor prognosis. However, little is known regarding how pulmonary SC develops and progresses. Case
Jianjun Ge, Bin Yao, Jia Huang, Xue Wu, Hua Bao, Qiuxiang Ou, Yang W. Shao, Jun Chen   +7 more
doaj   +1 more source