Results 121 to 130 of about 62,771 (244)

Merlin Phosphorylation by p21-activated Kinase 2 and Effects of Phosphorylation on Merlin Localization [PDF]

open access: yes, 2002
The Nf2 tumor suppressor gene product merlin is related to the membrane-cytoskeleton linker proteins of the band 4.1 superfamily, including ezrin, radixin, and moesin (ERMs). Merlin is regulated by phosphorylation in a Rac/cdc42-dependent fashion.
Eckman, Matthew S.   +3 more
core   +1 more source

Pancreatic Neuroendocrine Tumor Leading to a Diagnosis of Multiple Endocrine Neoplasia Type 1

open access: yesDEN Open, Volume 6, Issue 1, April 2026.
ABSTRACT Pancreatic neuroendocrine neoplasms are rare but occasionally encountered. They are generally highly vascularized solid tumors, often round in shape with clear boundaries, defined contours, and a homogeneous internal structure. However, they can also present with atypical features, such as cystic degeneration, hemorrhage, calcification, and ...
Noriyuki Hirakawa   +9 more
wiley   +1 more source

Metabolic Alterations in Macrophage Subtypes Propel Immune and Stromal Remodeling in Neurofibroma's Malignant Progression

open access: yesMedComm, Volume 7, Issue 4, April 2026.
Illustration of the microenvironment factors driving malignant progression in MPNSTs. ABSTRACT Neurofibromatosis type 1 (NF1) is characterized by the development of benign plexiform neurofibromas (PNFs). In 10%–15% of patients, these tumors undergo malignant transformation into aggressive malignant peripheral nerve sheath tumors (MPNSTs).
Ling‐Ling Ge   +11 more
wiley   +1 more source

Ewing sarcoma in a child with neurofibromatosis type 1. [PDF]

open access: yes, 2019
We report here on a case of Ewing sarcoma (ES) occurring in a child with neurofibromatosis type 1. The sarcoma had an EWSR1-ERG translocation as well as loss of the remaining wild-type allele of NF1. Loss of the NF1 wild-type allele in the tumor suggests
Bastian, Boris C   +6 more
core  

Exploring the Intersection of Rare Diseases and Mental Health Within the Diagnostic Odyssey: A Narrative Review and Thematic Synthesis

open access: yesNursing Open, Volume 13, Issue 4, April 2026.
ABSTRACT Aim To explore what is known about the intersection of mental health and rare diseases. Design Narrative review with peer‐reviewed literature from 2009 onwards. Methods The study searched for literature on these databases in September 2024: CINAHL, Scopus, Pubmed, Medline, Embase, and PsycInfo, as well as citation chaining and supplementary ...
Eileen Wu, Sophie Isobel, Paul Beckett
wiley   +1 more source

Socially oriented attention in young children with neurofibromatosis type 1: An eye‐tracking study

open access: yesDevelopmental Medicine &Child Neurology, Volume 68, Issue 4, Page 541-548, April 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70050 Abstract Aim To examine visual engagement to social stimuli and response to joint attention in young children with neurofibromatosis type 1 (NF1) and typically developing peers (controls). Method Forty‐five preschool children were studied cross‐sectionally (mean age [SD] = 4 
Kristina M. Haebich   +6 more
wiley   +1 more source

Interventions supporting the empowerment of parent carers of children with neurodisability and other long‐term health conditions: A scoping review

open access: yesDevelopmental Medicine &Child Neurology, Volume 68, Issue 4, Page 489-500, April 2026.
This scoping review identified 145 different interventions designed to support parent carer empowerment. These interventions have been catalogued and are presented in an interactive, online database. Abstract Aim To compile information about interventions that have been developed to support the empowerment of parent carers of children and young people ...
Jim Reeder   +7 more
wiley   +1 more source

Neurofibromatosis type 1

open access: yesMuller Journal of Medical Sciences and Research, 2013
P Chaitra, M Ramesh Bhat
doaj   +1 more source

Renal artery rupture with lethal outcome in a patient with neurofibromatosis type 1: Case report and review of literature

open access: yesJournal of International Medical Research
Neurofibromatosis type 1 is an autosomal dominant disorder. The vasculopathy of neurofibromatosis type 1 may rarely comprise stenosis, occlusion, aneurysm, pseudoaneurysm, and arteriovenous deformity, and it often presents as rupture of an undiagnosed ...
Jisun Lee, Yook Kim
doaj   +1 more source

Updated nomenclature for human and mouse neurofibromatosis type 1 genes [PDF]

open access: yes, 2017
Anastasaki, Corina   +3 more
core   +2 more sources

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