Results 71 to 80 of about 38,036,070 (284)

Decreased PP2A expression and activity represent a therapeutic target for plexiform neurofibroma

Acta Neuropathologica Communications
In neurofibromatosis type 1 (NF1), loss-of-function mutations in the NF1 gene increase activation of the RAS–MEK–ERK signaling cascade, driving tumorigenesis. MEK inhibitors (MEKi) inhibit tumor growth and significantly shrink nerve tumors (neurofibromas)
Minghui Yue, Yixiao Wang, Jiabao Gu, Cheng Zhang, Yang Chen, Aruna Gao, Kwangmin Choi, Zhaoming Wu, Zhichao Wang, Jay Pundavela, Nancy Ratner, Yanan Yu   +11 more
doaj   +1 more source

Consensus recommendations for neurofibromatosis type 1 management in Asia Pacific

iScience
Summary: Neurofibromatosis type 1 (NF1) is a complex multisystem disorder requiring coordinated multidisciplinary care. This study aimed to develop consensus recommendations for NF1 management in the Asia-Pacific region.
Yemima Berman, Beom Hee Lee, Anthony Pak-Yin Liu, Yoshihiro Nishida, Ee Shien Tan, Zhichao Wang   +5 more
doaj   +1 more source

Neurofibromatosis Type 1 in the Mandible

Annals of Maxillofacial Surgery, 2018
Neurofibromatosis type 1 (NF1) was first described in 1882 as a hamartomatous disorder of neural crest derivation. We present the imaging of a 65-year-old woman with NF1. Computed tomography revealed that there were three major findings presented: skeletal deformity, an area of fat (probably related to mesodermal dysplasia), and benign neoplasm within ...
Uchiyama, Yuka, Sumi, Tetsuro, Marutani, Keisuke, Takaoka, Hiroo, Murakami, Shumei, Kameyama, Hiroyasu, Yura, Yoshiaki   +6 more
openaire   +3 more sources

Macrocephaly in neurofibromatosis type 1: a sign post for optic pathway gliomas? [PDF]

, 2011
Optic pathway gliomas, which occur in 15-20% of paediatric patients with neurofibromatosis type 1, are the most common central nervous system tumour associated with this neurocutaneous disorder.
Barbara Goeggel Simonetti, Fleischhauer, Johannes M.C., Kevin Wingeier, Miriam Diepold, Johannes Fleischhauer, Schindera, Christina, Maja Steinlin, Claude B. Nauer, Diepold, Miriam, Christina Schindera, Nauer, Claude B, Goeggel Simonetti, Barbara, Steinlin, Maja, Wingeier, Kevin   +13 more
core   +2 more sources

Regulatory harmonization: Evolution, globalization and future directions

British Journal of Clinical Pharmacology, EarlyView.
Regulatory harmonization has become an increasingly important and accepted approach to streamline regulatory review processes and expedite access to safe, effective and high‐quality medicines globally. This review explores the evolution and current status of regulatory harmonization, convergence and reliance initiatives.
Orin Chisholm, Elaine Y. L. Blair, Christine Y. Lu   +2 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

Phenotypic characterization of neurofibromatosis type 1 in a large Chinese cohort: A cross-sectional studyCapsule Summary

JAAD International
Background: Neurofibromatosis type 1 (NF1) is a multisystemic genetic disorder characterized by NF1 gene mutations. The well-described manifestations of NF1 are primarily derived from European populations.
Zhichao Wang, MD, Xing Hu, MD, PhD, Haoyang Mo, MD, Minxue Shen, PhD, Carlos G. Romo, MD, PhD, Katya Vera, BA, Zhixiong Liu, MD, PhD, Qingfeng Li, MD, PhD, Chuntao Li, MD, PhD, Kavita Y. Sarin, MD, PhD   +9 more
doaj   +1 more source

Type 1 neurofibromatosis with periodontal manifestations

Indian Journal of Dental Sciences, 2016
Neurofibromatosis type 1 (NF1) also known as von Recklinghausen's disease is an autosomal dominant disease transmitted with a high degree of penetrance. The disease is expressed in different forms.
Pramod Kumar, Akshay Dhobley, Harshal Kumar, Sandeep Jain   +3 more
doaj   +1 more source

Can the Cognitive Phenotype in Neurofibromatosis Type 1 (NF1) Be Explained by Neuroimaging? A Review

Frontiers in Neurology, 2020
Neurofibromatosis type 1 (NF1) is one of the most frequent monogenetic disorders. It can be associated with cognitive dysfunctions in several domains such as executive functioning, language, visual perception, motor skills, social skills, memory and/or ...
É. Baudou, F. Nemmi, M. Biotteau, S. Maziero, P. Péran, Y. Chaix   +5 more
semanticscholar   +1 more source

Mosaic neurofibromatosis type 1

Dermatology Online Journal, 2008
A 24-year-old man presented with numerous lentigines and multiple cafe-au-lait macules on both sides of the face, neck, and trunk as well as on the proximal area of the upper extremities and in the axillae. The pigmented lesions had a Blaschko-linear distribution on the upper trunk and were limited to the left side of the abdomen, with a sharp ...
Liang, Christine, Schaffer, Julie V
openaire   +4 more sources