Results 81 to 90 of about 2,522,601 (164)

DataSheet3_Investigation of a Novel NTRK1 Variation Causing Congenital Insensitivity to Pain With Anhidrosis.PDF

, 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.
Hua-Ying Hu (11797217), Zhan-Ke Feng (11797226), Yi-Cheng Xu (11797214), You-Sheng Yan (11797229), Kai Yang (73590), Yan Liu (25061), Ya-Zhou Li (11231425), Ying-Yi Luan (11797220), Yong-Qing Sun (11797223), Qian Li (114642), Cheng-Hong Yin (11797232)   +10 more
core   +1 more source

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

Mol Clin Oncol, 2022
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   +1 more source

Predisposing deleterious variants in the cancer-associated human kinases in the global populations.

PLoS ONE
Human kinases play essential and diverse roles in the cellular activities of maintaining homeostasis and growth. Genetic mutations in the genes encoding the kinases (or phosphotransferases) have been linked with various types of cancers.
Salman Ahmed Khan, Misbah Anwar, Atia Gohar, Moom R Roosan, Daniel C Hoessli, Ambrina Khatoon, Muhammad Shakeel   +6 more
doaj   +1 more source

Ocular Manifestations in Congenital Insensitivity to Pain with Anhidrosis: A Window into a Rare Syndrome

Vision
Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive syndrome caused by loss-of-function mutations in the Neurotrophic Tyrosine Kinase Receptor 1 gene, characterized by recurrent episodes of infections and ...
Mohammed Baker, Kenda Abedal-Kareem, Sadeen Eid, Mahmoud Alkhawaldeh, Yahya Albashaireh, Jihan Joulani, Sara Bani Amer, Ethar Hazaimeh, Omar F. Jbarah, Abdelwahab Aleshawi, Rami Al-Dwairi   +10 more
doaj   +1 more source

Abstracts

Molecular Oncology, Volume 20, Issue S1, Page 1-692, August 2026.
Abstracts submitted to the ‘EACR 2026 Congress: Innovative Cancer Science’, from 08–11 June 2026 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source

Phosphorylation of NTRK1 at Y674/Y675 induced by TP53-dependent repression of PTPN6 expression: a potential novel prognostic marker for breast cancer

, 2014
We have identified a ligand-independent mechanism whereby the tumor suppressor, TP53, induces nerve growth factor receptor, NTRK1, phosphorylation at Y674/Y675 (NTRK1-pY674/pY675), via the repression of the NTRK1-phosphatase, PTPN6.
Agbaje, O., Agbaje, Orunsola, Montano Hernandez, X., Crompton, T., Youssef, G., Gillett, C., Youssef, Gehad, Gillett, Cheryl, Montano, Ximena, Crompton, Tessa   +9 more
core   +1 more source

TMP3-NTRK1 rearranged uterine sarcoma:A case report

, 2020
Introduction: Uterine sarcomas are a group of rare tumours with heterogeneous morphological and genetic features. Recent advances in the molecular characterisation of these tumours have identified a novel clinicopathological category underpinned by NTRK ...
Ganesan, Raji, Williams, Anthony, Sundar, Sudha; id_orcid, Taniere, Philippe, Boyle, William, Yap, Jason, Rehal, Pauline   +6 more
core   +1 more source

Congenital insensitivity to pain with anhidrosis: a literature review and the advocacy for stem cell therapeutic interventions

Therapeutic Advances in Rare Disease
Congenital Insensitivity to Pain with Anhidrosis (CIPA) is a rare genetic disorder affecting the autonomic nervous system, leading to an inability to feel pain, temperature, or sweat1.
Muhammad Ikrama, Muhammad Usama, Muhammad Hassan Haider, Shifa Israr, Maryam Humayon   +4 more
doaj   +1 more source

Proximity of TPR and NTRK1 rearranging loci in human thyrocytes

, 2005
Chromosomal rearrangements are frequently associated with cancer; the mechanisms underlying their cell-type specificity are poorly understood. Papillary thyroid carcinomas are marked by a high frequency of chromosome rearrangements involving the RET and ...
A. Greco, G. Sabatella, L. Vizzotto, M. A. Pierotti, C. Rumio, P. Bressan, E. Roccato   +6 more
core   +1 more source

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   +1 more source