Results 61 to 70 of about 38,064 (238)

MEKK2 mediates aberrant ERK activation in neurofibromatosis type I

Nature Communications, 2020
Neurofibromatosis type I (NF1) is characterized by prominent skeletal abnormalities mediated in part by aberrant ERK pathway activation due to NF1 loss-of-function.
Seoyeon Bok, Dong Yeon Shin, Alisha R. Yallowitz, Mark Eiseman, Michelle Cung, Ren Xu, Na Li, Jun Sun, Alfred L. Williams, John E. Scott, Bing Su, Jae-Hyuck Shim, Matthew B. Greenblatt   +12 more
doaj   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Oral manifestations in neurofibromatosis type I: A case report

Journal of Indian Academy of Oral Medicine and Radiology, 2014
Neurofibroma is a benign peripheral nerve sheath tumor, which is one of the most frequent tumors of neural origin. The diagnosis of type 1 neurofibromatosis (NF-I) can be made if there is presence of a neurofibroma. Neurofibromatosis type 1 occurs due to
Ashwinirani Suragimath, Shobha Channabasappa Bijjargi, Abhijeet R Sande, Veerendra S Patil   +3 more
doaj   +1 more source

NEUROFIBROMATOSIS TYPE I : CASE REPORT

Journal of Evolution of Medical and Dental Sciences, 2014
Neurofibromatosis (NF) is a term that has been applied to a variety of related syndromes, characterized by neuro ectodermal tumors arising within multiple organs and autosomal-dominant inheritance. Neurofibromatosis type I(NF-1), known as well as Recklinghausen's disease, we have presented a case report of 10 year old boy with complain of scalp ...
Neha Gupta, Poonam Gupta, Baberwal M C, Hemant Mishra   +3 more
openaire   +1 more source

Graph complexity analysis identifies an ETV5 tumor-specific network in human and murine low-grade glioma [PDF]

, 2018
Conventional differential expression analyses have been successfully employed to identify genes whose levels change across experimental conditions.
Bush, Erin C, Duron, Christina, Gutmann, David H, Hardin, Johanna, Ma, Yu, Pan, Yuan, Radunskaya, Ami, Sims, Peter A   +7 more
core   +5 more sources

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Type 1 neurofibromatosis complicated by pulmonary arterial hypertension: a case report

Türk Kardiyoloji Derneği Arşivi, 2017
Neurofibromatosis type I (NF1) is a rare genetic disease caused by mutations in the NF1 gene, which encodes the tumor suppressor neurofibromin. Precapillary pulmonary hypertension is a severe complication of NF1, initially described in patients with ...
Murathan Küçük, Can Ramazan Öncel, Mustafa Uçar, Aytül Belgi Yıldırım   +3 more
doaj   +1 more source

Gastrointestinal Stromal Tumor in a Patient with Neurofibromatosis Type I: Diagnosis after Intestinal Occlusion Secondary to Adhesions after an Episode of Pancreatitis

Revista Brasileira de Cancerologia, 2023
Introduction: Gastrointestinal stromal tumors (GIST), although relatively rare, account for 80% of mesenchymal tumors of the digestive tract. They manifest in any part of the alimentary tract and are derived from Cajal cells. They may occur sporadically
Pamela Viana e Silva, Thiago Menezes Costa, Renanna Najara Veras Rodrigues, Carlos Anselmo Lima   +3 more
doaj   +1 more source

Generalized metabolic bone disease in Neurofibromatosis type I [PDF]

Molecular Genetics and Metabolism, 2008
Skeletal abnormalities are a recognized component of Neurofibromatosis type I (NF1) but a generalized metabolic bone defect in NF1 has not been fully characterized thus far. The purpose of this study was to characterize at the densitometric, biochemical and pathological level the bone involvement in NF1 patients. Using dual energy X-ray absorptiometry (
BRUNETTI PIERRI, NICOLA, Doty SB, Hicks J, Phan K, Mendoza Londono R, Blazo M, Tran A, Carter S, Lewis RA, Plon SE, Phillips WA, Smith EO, Ellis KJ, Lee B.   +13 more
openaire   +3 more sources

A conserved circadian function for the Neurofibromatosis 1 gene [PDF]

, 2018
Summary: Loss of the Neurofibromatosis 1 (Nf1) protein, neurofibromin, in Drosophila disrupts circadian rhythms of locomotor activity without impairing central clock function, suggesting effects downstream of the clock.
Bai, Lei, Cavanaugh, Daniel, Gutmann, David H, Haynes, Paula, Hsu, Cynthia T, Lee, Yool, Sehgal, Amita, Stein, Carly, Wang, Han, Williams, Julie A, Zheng, Xiangzhong   +10 more
core   +3 more sources