Results 51 to 60 of about 12,023 (208)

Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review

Journal of International Medical Research, 2018
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive heterogeneous disorder mainly caused by mutations in the neurotrophic tyrosine receptor kinase 1 gene ( NTRK1 ) and characterized by insensitivity to noxious stimuli ...
Zhenlei Liu, Jiaqi Liu, Gang Liu, Wenjian Cao, Sen Liu, Yixin Chen, Yuzhi Zuo, Weisheng Chen, Jun Chen, Yu Zhang, Shishu Huang, Guixing Qiu, Philip F. Giampietro, Feng Zhang, Zhihong Wu, Nan Wu   +15 more
doaj   +1 more source

Molecular pathology of phyllodes tumours of the breast—much more than MED12

Histopathology, EarlyView.
Phyllodes tumours can develop from fibroadenomas bearing MED12 variants by the development of pTERT alterations (“MED12 pathway”) or de novo (“MED12 independent pathway”). Grade progression is associated with increasing genetic complexity including cancer driver gene aberrations. Molecular alterations can be useful in assigning grade and distinguishing
Jia‐Min B Pang, Kylie L Gorringe, Puay Hoon Tan, Stephen B Fox   +3 more
wiley   +1 more source

Efficient generation of neural stem cell-like cells from adult human bone marrow stromal cells [PDF]

, 2004
Clonogenic neural stem cells (NSCs) are self-renewing cells that maintain the capacity to differentiate into brain-specific cell types, and may also replace or repair diseased brain tissue. NSCs can be directly isolated from fetal or adult nervous tissue,
Boehm, Bernhard O., Brenner, Rolf, Fiedler, Jörg, Gastl, Regina, Hermann, Andreas, Lerche, Holger, Liebau, Stefan, Maisel, Martina, Popa, M. Oana, Schwarz, Johannes, Storch, Alexander   +10 more
core  

Noise-induced hearing loss: Neuropathic pain via Ntrk1 signaling [PDF]

Molecular and Cellular Neuroscience, 2016
Severe noise-induced damage to the inner ear leads to auditory nerve fiber degeneration thereby reducing the neural input to the cochlear nucleus (CN). Paradoxically, this leads to a significant increase in spontaneous activity in the CN which has been linked to tinnitus, hyperacusis and ear pain.
Senthilvelan, Manohar, Kimberly, Dahar, Henry J, Adler, Ding, Dalian, Richard, Salvi   +4 more
openaire   +2 more sources

Nitrate Prevents Sjögren's Disease by Modulating T Helper Cells via NF‐κB Pathway Suppression

Oral Diseases, EarlyView.
ABSTRACT Objective Sjögren's disease (SjD) is a chronic autoimmune disease characterized by abnormal T helper (Th) cell distribution in the salivary glands (SGs). Although nitrate can regulate immune responses and preserve SGs function, its preventive effects on SjD remain unexplored.
Conglin Du, Zi Yang, Yang Yang, Chunmei Zhang, Hideaki Kagami, Xianqi Li, Liang Hu, Junji Xu, Jian Zhou   +8 more
wiley   +1 more source

Identificación de genes de fusión NTRK. Experiencia en México

Gaceta Mexicana de Oncología, 2023
Objetivo: Evaluar la prevalencia de fusiones TRK en pacientes con cáncer en México. Material y métodos: En un estudio de tipo canasta, se determinó la presencia de genes de fusión NTRK, mediante inmunohistoquímica y secuenciación de nueva generación, en ...
Leticia Bornstein-Quevedo, Claudia Bautista-Wong, Zaira Mojica-González, Mario Gámez-Rosales, Katia Hop-García   +4 more
doaj   +1 more source

Clinical applications of next generation sequencing in cancer: From panels, to exomes, to genomes [PDF]

, 2015
This article will review recent impact of massively parallel next-generation sequencing (NGS) in our understanding and treatment of cancer. While whole exome sequencing (WES) remains popular and effective as a method of genetically profiling different ...
Lin, Jimmy C.-H., Pajaro-Van de Stadt, Stefan Hans, Shen, Tony, Yeat, Nai Chien   +3 more
core   +3 more sources

Glial cells in the heart: Implications for their roles in health and disease

The Journal of Physiology, EarlyView.
Abstract figure legend Schematic representation of cardiac autonomic ganglia within epicardial fat pads (posterior heart surface shown), containing vagal postganglionic neuron cell bodies, associated fibres, and glia. These ganglia receive cholinergic input from vagal preganglionic neurons and adrenergic input from sympathetic postganglionic neurons ...
Svetlana Mastitskaya, Rimma Dugarova, Shefeeq M. Theparambil   +2 more
wiley   +1 more source

A Concise Atlas of Thyroid Cancer Next-Generation Sequencing Panel ThyroSeq v.2 [PDF]

, 2017
The next-generation sequencing technology allows high out-put genomic analysis. An innovative assay in thyroid cancer, ThyroSeq® was developed for targeted mutation detection by next generation sequencing technology in fine needle aspiration and tissue ...
Alsina, Jorge, Alsina, Raul, Gulec, Seza
core   +2 more sources

TMP3-NTRK1 rearranged uterine sarcoma: A case report

Case Reports in Women's Health, 2020
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 gene fusions.We present the case of a 42-year-old woman with a polypoid cervical lesion formed of densely cellular,
William Boyle, Anthony Williams, Sudha Sundar, Jason Yap, Philippe Taniere, Pauline Rehal, Raji Ganesan   +6 more
openaire   +3 more sources