Results 51 to 60 of about 33,733 (216)

RENOVO-NF1 accurately predicts NF1 missense variant pathogenicity

Human Genomics
Abstract The identification of a pathogenic variant in the NF1 gene is an important step in the diagnosis of the tumor-predisposing and developmental syndrome neurofibromatosis, and is increasingly important in the characterization of sporadic tumors, in which NF1 loss identifies specific biologic subtypes.
Emanuele Bonetti, Serena Pellegatta, Nayma Rosati, Marica Eoli, Luca Mazzarella   +4 more
openaire   +3 more sources

Nf1 haploinsufficiency augments angiogenesis [PDF]

Oncogene, 2005
Mutations in the NF1 tumor-suppressor gene underlie neurofibromatosis type 1 (NF1), in which patients are predisposed to certain tumors such as neurofibromas and may associate with vascular disorder. Plexiform neurofibromas are slow growing benign tumors that are highly vascular and can progress to malignancy.
M, Wu, M R, Wallace, D, Muir
openaire   +2 more sources

Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity

Human Mutation, 2023
Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder with a broad spectrum of associated signs and symptoms, including skeletal anomalies. The association of NF1 with anterior chest wall deformities has been recently reported, especially the pectus excavatum (PE). Over the years, several authors have suggested loss of heterozygosity (LOH)
Cristina Chelleri, Marcello Scala, Patrizia De Marco, Vittorio Guerriero, Marzia Ognibene, Francesca Madia, Sara Guerrisi, Marco Di Duca, Michele Torre, Serena Tamburro, Paolo Scudieri, Gianluca Piccolo, Girolamo Mattioli, Francesca Buffelli, Paolo Uva, Diego Vozzi, Ezio Fulcheri, Pasquale Striano, Maria Cristina Diana, Federico Zara   +19 more
openaire   +2 more sources

Design and Optimization of a Double‐Column Vapor Recompression Heat Pump Distillation Process via NSGA‐II for Separating Ternary Wide‐Boiling Mixtures

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT This study proposes a novel double‐column vapor recompression heat pump (DCVRHP) distillation process for separating ternary wide‐boiling‐range mixtures under two different vapor conditions: n‐hexane/n‐heptane/n‐octane using low pressure steam and n‐hexanol/n‐octanol/n‐decanol using high pressure steam.
Zeyang Li, Xiaoxin Gao, Xiaoyu Kang, Ruijie Wang, Xiyuan Chen   +4 more
wiley   +1 more source

Development of algorithms to identify individuals with Neurofibromatosis type 1 within administrative data and electronic medical records in Ontario, Canada

Orphanet Journal of Rare Diseases, 2022
Background There is limited population-based data on Neurofibromatosis type 1 (NF1) in North America. We aimed to develop and validate algorithms using administrative health data and electronic medical records (EMRs) to identify individuals with NF1 in ...
Carolina Barnett, Elisa Candido, Branson Chen, Priscila Pequeno, Patricia C. Parkin, Karen Tu   +5 more
doaj   +1 more source

Association of an Early Resistance Genomic State With Early Progression Following CDK4/6 Inhibitor Therapy in HR+/HER2− Metastatic Breast Cancer

Cancer Nexus, EarlyView.
ABSTRACT CDK4/6 inhibitors combined with endocrine therapy are the standard first‐line treatment for hormone receptor‐positive (HR+) HER2‐negative metastatic breast cancer. However, a substantial proportion of patients experience early disease progression in routine practice. Clinicians currently lack practical tools at treatment initiation to identify
Mobina Shrestha, Salina Dahal, Vishal Mandal, Amir Babu   +3 more
wiley   +1 more source

Attention Deficit Predicts Intellectual Functioning in Children with Neurofibromatosis Type 1

International Journal of Pediatrics, 2019
Aims. Attention deficit hyperactivity disorder (ADHD) is one of the most frequent neurocognitive impairments in neurofibromatosis type 1 (NF1) and a well-known risk factor for intellectual dysfunction in general.
Magdalena Heimgärtner, Sofia Granström, Karin Haas-Lude, Robert A. Leark, Victor-Felix Mautner, Karen Lidzba   +5 more
doaj   +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

Unilateral Yasunari nodule-like appearance in a patient without neurofibromatosis type 1

European Journal of Case Reports in Internal Medicine
Introduction: Yasunari nodules are choroidal lesions characterized by bright, poorly demarcated multiple lesions detected through near-infrared reflectance imaging and are considered diagnostic for neurofibromatosis type 1 (NF1).
Hamit Ali, Nargis Ahmadova, Özlem Ural Fatihoglu, Mehmet Kocabey, Ahmet Okay Caglayan, Ali Osman Saatci   +5 more
doaj   +1 more source