Neurofibromin structure, functions and regulation

M Bergoug, M Doudeau, F Godin, C Mosrin, B Vallée… - Cells, 2020 - mdpi.com
Neurofibromin is a large and multifunctional protein encoded by the tumor suppressor gene
NF1, mutations of which cause the tumor predisposition syndrome neurofibromatosis type 1 …

The rasopathies

KA Rauen - Annual review of genomics and human genetics, 2013 - annualreviews.org
The RASopathies are a clinically defined group of medical genetic syndromes caused by
germline mutations in genes that encode components or regulators of the Ras/mitogen …

Ras in cancer and developmental diseases

A Fernández-Medarde, E Santos - Genes & cancer, 2011 - journals.sagepub.com
Somatic, gain-of-function mutations in ras genes were the first specific genetic alterations
identified in human cancer about 3 decades ago. Studies during the last quarter century …

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

WE Tidyman, KA Rauen - Current opinion in genetics & development, 2009 - Elsevier
The Ras/mitogen activated protein kinase (MAPK) pathway is essential in the regulation of
the cell cycle, differentiation, growth and cell senescence, all of which are critical to normal …

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus

D Viskochil, AM Buchberg, G Xu, RM Cawthon… - Cell, 1990 - cell.com
Three new neurofibromatosis type 1 (NFl) mutations have been detected and characterized.
Pulsed-field gel and Southern blot analyses reveal the mutations lo be deletions of 190, 40 …

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

RM Cawthon, R Weiss, G Xu, D Viskochil, M Culver… - Cell, 1990 - cell.com
Overlapping cDNA clones from the translocation breakpoint region (TBR) gene, recently
discovered at the neurofibromatosis type 1 locus and found to be interrupted by deletions …

The congenital and acquired mechanisms implicated in the etiology of central precocious puberty

VN Brito, APM Canton, CE Seraphim… - Endocrine …, 2023 - academic.oup.com
The etiology of central precocious puberty (CPP) is multiple and heterogeneous, including
congenital and acquired causes that can be associated with structural or functional brain …

Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective

RE Ferner - The Lancet Neurology, 2007 - thelancet.com
Summary Historically, neurofibromatosis 1 (NF1) has been inextricably linked with
neurofibromatosis 2 (NF2). Both are inherited autosomal-dominant neurocutaneous …

Molecular genetics of neurofibromatosis type 1 (NF1).

MH Shen, PS Harper, M Upadhyaya - Journal of medical genetics, 1996 - jmg.bmj.com
Neurofibromatosis type 1 (NF1), also called von Recklinghausen disease or peripheral
neurofibromatosis, is a common autosomal dominant disorder characterised by multiple …

Expression cloning of a functional glycoprotein ligand for P-selectin

D Sako, XJ Chang, KM Barone, G Vachino, HM White… - Cell, 1993 - cell.com
The initial adhesive interactions between circulating leukocytes and endothelia are
mediated, in part, by P-selectin. We now report the expression cloning of a functional iigand …