Results 1 to 10 of about 6,777,214 (229)

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   +6 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   +6 more sources

A rare case of recurrent ovarian cancer with TPM3-NTRK1 gene rearrangement: A case report. [PDF]

Mol Clin Oncol, 2022
NTRK gene fusion is rare in gynecological cancer. Entrectinib is a novel targeted drug, which is a potent inhibitor of TRK A, B and C. The present case report described a case of recurrent ovarian cancer with TPM3-NTRK1 rearrangement, which was detected ...
Endo Y, Watanabe T, Saito M, Saito K, Suzuki R, Sano H, Natori Y, Sasaki E, Ueda M, Kamo N, Furukawa S, Soeda S, Kono K, Saji S, Fujimori K.   +14 more
europepmc   +5 more sources

NTRK1 Gene Fusions Are Frequent in Juvenile Xanthogranuloma. [PDF]

Am J Surg Pathol
Juvenile Xanthogranuloma (JXG) is a rare form of non-Langerhans cell histiocytosis. The most common known gene mutations affect the mitogen-activated protein (MAP) kinase, phosphoinositide 3-kinase (PI3K), and Janus kinase/signal transducer and activator
Schlögl E, Hürner-Unterberger H, Simonitsch-Klupp I, Amann G, Blank-Foltin J, Neudert B, Wozelka-Oltjan L, Haberler C, Ebetsberger-Dachs G, Müllauer L, Müllauer L.   +10 more
europepmc   +4 more sources

Larotrectinib Treatment of Xanthogranuloma With NTRK1 Gene Fusion: A Case Report. [PDF]

Cureus
Non-Langerhans cell histiocytosis (NLCH) is a broad disorder encompassing different diseases arising from dermal dendritic histiocytes. Xanthogranuloma (XG) is a cutaneous subtype of NLCH that can be present in isolated or multiple locations.
Ralston G, Humeniuk M.
europepmc   +3 more sources

Recurrent NTRK1 Gene Fusions Define a Novel Subset of Locally Aggressive Lipofibromatosis-like Neural Tumors. [PDF]

Am J Surg Pathol, 2016
The family of pediatric fibroblastic and myofibroblastic proliferations encompasses a wide spectrum of pathologic entities with overlapping morphologies and ill-defined genetic abnormalities. Among the superficial lesions, lipofibromatosis (LPF), composed of an admixture of adipose tissue and fibroblastic elements, in the past has ...
Agaram NP, Zhang L, Sung YS, Chen CL, Chung CT, Antonescu CR, Fletcher CD.   +6 more
europepmc   +5 more sources

Papillary thyroid cancer with translocation in the TPM3‑NTRK1 gene

Опухоли головы и шеи, 2022
The study objective – to identify specific morphological criteria characteristic of papillary thyroid cancer with translocations in the NTRK genes.Materials and methods. A retrospective analysis of 130 cases of morphologically confirmed papillary thyroid
M. R. Savchuk, N. V. Shved, N. A. Savelov, I. L. Plaksa   +3 more
doaj   +3 more sources

Sensitivity to Entrectinib Associated With a Novel LMNA-NTRK1 Gene Fusion in Metastatic Colorectal Cancer. [PDF]

J Natl Cancer Inst, 2016
In metastatic colorectal cancer (CRC), actionable genetic lesions represent potential clinical opportunities. NTRK1, 2, and 3 gene rearrangements encode oncogenic fusions of the tropomyosin-receptor kinase (TRK) family of receptor tyrosine kinases in ...
Sartore-Bianchi A, Ardini E, Bosotti R, Amatu A, Valtorta E, Somaschini A, Raddrizzani L, Palmeri L, Banfi P, Bonazzina E, Misale S, Marrapese G, Leone A, Alzani R, Luo D, Hornby Z, Lim J, Veronese S, Vanzulli A, Bardelli A, Martignoni M, Davite C, Galvani A, Isacchi A, Siena S.   +24 more
europepmc   +7 more sources

Disseminated non-Langerhans cell histiocytosis with an IRF2BP2-NTRK1 gene fusion identified by next-generation sequencing. [PDF]

JAAD Case Rep, 2020
Chan WH, Shah A, Bae G, Hambro C, Martin BA, Brown R, Novoa R, Kwong BY.   +7 more
europepmc   +6 more sources

Adult xanthogranuloma with LMNA‐NTRK1 gene fusion – a possible driver of proliferation

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, 2022
Adult xanthogranuloma (AXG) is a rare disorder with a broad spectrum of clinical manifestations, ranging from benign skin-limited to malignant forms with systemic involvement. We present a case of multiple AXG (M-AXG), harboring an LMNA-NTRK1 gene fusion.
Melike Ak, E. Ramelyte, L. Imhof, D. Mihic-Probst, R. Dummer, C. Lang   +5 more
semanticscholar   +3 more sources