Results 41 to 50 of about 12,566 (189)

Retrospective Analysis of T2‐Hyperintense Lesions in Children With Neurofibromatosis Type 1

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective The aim of this study is to determine whether a previously reported three‐tiered classification scheme for T2‐hyperintense brain lesions in children with neurofibromatosis type 1 (NF1) was associated with distinct radiographic or clinical characteristics after 10 years of real‐world follow‐up data were obtained.
Ariel B. Brickler, Manu S. Goyal, Robert C. McKinstry, David H. Gutmann, Jennifer L. Griffith   +4 more
wiley   +1 more source

The association between neural crest‐derived glia and melanocyte lineages throughout development and disease

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Human biomarker navigator

iMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

Spectrum of gastrointestinal lesions of neurofibromatosis type 1: a pictorial review

Insights into Imaging, 2018
Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders. Gastrointestinal manifestations of NF-1 are seldom thought of in routine clinical practice and might thus be significantly under-recognised.
Nada Garrouche, Amel Ben Abdallah, Nadia Arifa, Ibtissem Hasni, Yasser Ben Cheikh, Waad Ben Farhat, Sana Ben Amor, Hela Jemni   +7 more
doaj   +1 more source

A case report of non‐syndromic colonic ganglioneuroma in a patient with juvenile polyposis

JPGN Reports, EarlyView.
Abstract Colonic ganglioneuromas in children are rare, particularly without associated hereditary syndromes like multiple endocrine neoplasia (MEN2B), neurofibromatosis type 1(NF1), or Phosphatase and tensin homolog hamartoma tumor syndrome (PHTS). We report a 12‐year‐old male with a history of juvenile polyposis syndrome (JPS) and segmental colonic ...
Holly Coffey, Kshitij Arora, Matthew J. Giefer   +2 more
wiley   +1 more source

Loss of EPB41L3: a common molecular link in the tumorigenesis of neurofibromatosis types 1 and 2

Frontiers in Oncology
BackgroundNeurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) are autosomal dominant disorders that originate from Schwann cells and are characterized by the development of benign and malignant tumors, respectively.
Erxing Tao, Lin Zhou, Lin Zhou, Zhicheng Xu, Hui Ren, Junyu Yang, Yiming Chen, Qi Wang, Min Liu, Yanfei Zhang, Wei Liang, Siyi Xu, Chunlong Zhong, Zhigang Wang   +13 more
doaj   +1 more source

Transoral Robotic Resection of Glossopharyngeal Neurofibroma: A Case Report

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT This case highlights the diagnostic challenges posed by rare oropharyngeal neurofibromas, their potential to mimic other conditions, and the novel application of transoral robotic surgery (TORS) for the management of an oropharyngeal neurofibroma. A 47‐year‐old female presented with a 1‐year history of a left tonsillar mass.
Cody L. Messick, Austin R. Swisher, Hannah M. Gibbs, Michael T. Sramek, Laura Klusovsky, Payam Entezami, James S. Lewis Jr., Brent A. Chang   +7 more
wiley   +1 more source

Targeting KRAS for cancer therapy

British Journal of Pharmacology, EarlyView.
In recent years, therapeutics targeted against KRAS proto‐oncogene GTPase (KRAS)‐mutant cancers have seen significant progress. Herein we outline the biology and epidemiology of KRAS alterations at the lineage and allele levels, reviewing the clinical evidence for KRASG12C inhibition from the discovery of the recessive switch pocket to sotorasib ...
Jianlong Jia, Ruonan Liu, Tonia A. Adamide, Isis E. Fernandez, Georgios T. Stathopoulos   +4 more
wiley   +1 more source

Generation of two non-integrated induced pluripotent stem cell lines from urine-derived cells of a Chinese patient carrying NF1 gene mutation

Stem Cell Research, 2020
Mutations in the neurofibromin (NF1) gene cause neurofibromatosis type 1 (NF1), a complex tumour predisposition syndrome. Here, we generated two induced pluripotent stem cell (iPSC) lines using urine cells (UCs) derived from a 21-year-old female NF1 ...
Liang Shi, Yazhou Cui, Zijuan Qi, Xiaoyan Zhou, Jing Luan, Jinxiang Han   +5 more
doaj   +1 more source