Results 31 to 40 of about 34,178 (233)

Molecular and Clinical Overview of Type 1 Neurofibromatosis: Single Center Study and Mini Review on NF1-Associated Vasculopathy and Juvenile Myelomonocytic Leukemia

Gazi Medical Journal
Objective: Neurofibromatosis type 1 (NF1) is a genetic disorder presenting primary with variable patterns of skin pigmentation, neurofibromas and iris Lisch nodules.
Şule Altıner, Alper Han Çebi
doaj   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population study

Orphanet Journal of Rare Diseases, 2018
Background Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital anomalies, e.g., in the skeletal and cardiovascular systems, but the overall ...
Jussi Leppävirta, Roope A. Kallionpää, Elina Uusitalo, Tero Vahlberg, Minna Pöyhönen, Juha Peltonen, Sirkku Peltonen   +6 more
doaj   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Systematic pathway‐level analysis defines conserved transcriptional divergence between primary lung tumors and cell line models

Animal Models and Experimental Medicine, EarlyView.
Lung cancer cell lines diverge substantially from primary tumors at the transcriptional level. Using single‐sample gene set enrichment analysis and L1‐penalized feature selection across TCGA‐LUAD and CCLE‐LUAD, we identified five Hallmark pathways (E2F targets, G2M checkpoint, IFNγ response, coagulation, and EMT) that discriminated primary tumors from ...
Pritam Bera, Rajesh Raju, Debodipta Das
wiley   +1 more source

Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene

Genomics, 2005
Neurofibromatosis type 1 (NF1) microdeletion syndrome is caused by haploinsufficiency of the NF1 gene and of gene(s) located in adjacent flanking regions. Most of the NF1 deletions originate by nonallelic homologous recombination between repeated sequences (REP-P and -M) mapped to 17q11.2, while a few uncommon deletions show unusual breakpoints.
C. Gervasini, M. Venturin, F. Orzan, A. Friso, M. Clementi, R. Tenconi, L. Larizza, P. Riva   +7 more
openaire   +4 more sources

NF1 Gene and Neurofibromatosis 1 [PDF]

American Journal of Epidemiology, 2000
Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations of the NF1 gene, which is located at chromosome 17q11.2. NF1 is believed to be completely penetrant, but substantial variability in expression of features occurs. Diagnosis of NF1 is based on established clinical criteria.
S A, Rasmussen, J M, Friedman
openaire   +2 more sources

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

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