Results 111 to 120 of about 25,840 (207)
Abstract Background Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas with a 5‐year survival rate of approximately 50%, secondary to their metastatic potential and resistance to therapy. MPNSTs can arise sporadically, as a late toxicity from therapeutic radiotherapy, or in patients with neurofibromatosis type 1 (NF1).
Rachel E. Aubrey +7 more
wiley +1 more source
Recent Advancement of Neurofibromatosis Type 1: A Narrative Review
Neurofibromatosis type 1 (NF1) is a complex autosomal dominant genetic disorder caused by mutations in the NF1 gene on chromosome 17, which encodes the tumor-suppressor protein, neurofibromin.
Po-Yuan Huang +2 more
doaj +1 more source
Neurofibromatosis type 1 (NF1) is caused by germline mutations in the NF1 gene and is characterized by café au lait spots and benign tumours known as neurofibromas.
Ritsuko Harigai +13 more
doaj +1 more source
Clinically aggressive central giant cell granulomas in two patients with neurofibromatosis 1 [PDF]
Background Neurofibromatosis 1 (NF1) is an autosomal dominantly inherited disorder caused by a spectrum of mutations affecting the Nf1 gene. Affected patients develop benign and malignant tumors at an increased frequency.
Edwards, Paul C. +5 more
core +1 more source
Clinical exome performance for reporting secondary genetic findings. [PDF]
BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P +6 more
core +1 more source
Virus-host interactions essential for alphavirus pathogenesis are poorly understood. To address this shortcoming, we coupled retrovirus insertional mutagenesis and a cell survival selection strategy to generate clonal cell lines broadly resistant to Sindbis virus (SINV) and other alphaviruses.
Kolokoltsova, Olga A. +5 more
openaire +2 more sources
A neurofibromatosis type 1 family report with multiple cases in 3 consecutive Generations
Neurofibromatosis type1 (NF1) with the incidence of 1 in 3500 births, is the most common disorder which affects skin and peripheral nervous system. NF1 results from mutations in NF1 gene. The NF1 gene spans 350kbp and to date, nearly 2434 mutations in it
M Oladnabi +4 more
doaj
Preclinical Evidence for the Use of Sunitinib Malate in the Treatment of Plexiform Neurofibromas [PDF]
Plexiform neurofibromas (pNF) are pathognomonic nerve and soft tissue tumors of neurofibromatosis type I (NF1), which are highly resistant to conventional chemotherapy and associated with significant morbidity/mortality.
Chen, Shi +13 more
core +1 more source
Nf1 haploinsufficiency alters myeloid lineage commitment and function, leading to deranged skeletal homeostasis [PDF]
Although nullizygous loss of NF1 leads to myeloid malignancies, haploinsufficient loss of NF1 (Nf1) has been shown to contribute to osteopenia and osteoporosis which occurs in approximately 50% of neurofibromatosis type 1 (NF1) patients.
Chen, Shi +8 more
core +1 more source
Diagnostic and therapeutic process of neurofibromatosis type 1 and type 2
Neurofibromatosis is one of the most common genetic diseases. It is inherited in an autosomal dominant manner. It is divided into two genetically distinct subtypes, characterised by multiple skin lesions and tumours of the peripheral and central nervous
Michał Leśniewski +3 more
doaj +1 more source

