The A391E mutation in fibroblast growth factor receptor 3 (FGFR3) is the genetic cause for Crouzon syndrome with Acanthosis Nigricans. Here we investigate the effect of this mutation on FGFR3 activation in HEK 293 T cells over a wide range of fibroblast growth factor 1 concentrations using a physical-chemical approach that deconvolutes the effects of the mutation on dimerization, ligand binding...

BACKGROUND Type B insulin resistance syndrome is a manifestation of autoantibodies to the insulin receptor that results in severe hyperglycemia and acanthosis nigricans. However, the mechanisms by which these autoantibodies induce hypoglycemia are largely unknown. In this paper, we report the case of patient with type B insulin resistance syndrome who presented with frequent severe fasting hypo...

BACKGROUND Congenital generalized lipodystrophy (CGL) also known as Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a genetically heterogeneous disorder characterized by loss of adipose tissues, Acanthosis nigricans, diabetes mellitus, muscular hypertrophy, hepatomegaly and hypertriglyceridemia. There are four subclinical phenotypes of CGL (CGL1-4) and mutations in four genes AGPAT2, BSCL2...

We have studied a patient with extreme insulin resistance, acanthosis nigricans, and decreased erythrocyte insulin binding. EBV-transformed lymphocytes from this patient exhibited markedly reduced binding of 125I-insulin. Radioiodination of cell surface receptors followed by immunoprecipitation with anti-receptor antibodies revealed the presence of increased amounts of a 210-kD protein but no d...

Estimate prevalence of obesity and acanthosis nigricans (AN) among children in United States Affiliated Pacific (USAP) jurisdictions.Cross-sectional measurement of weight, height, and AN in 5775, 2 to 8 years old in 51 communities-Hawai'i, Alaska, Commonwealth of the Northern Mariana Islands, Guam, American Samoa, Palau, Republic of the Marshall Islands (RMI), 4 Federated States of Micronesia (...

We report a 5 year old girl with postnatal overgrowth (height velocity >97th centile), hyperinsulinaemia, and increased insulin-like growth factor 1 for age, without evidence of bioactive or immunoreactive growth hormone excess or pituitary abnormality. Although her overgrowth may be a result of hyperinsulinism, her serum contains a factor (neither insulin nor IGF-1) which is able to stimulate ...

Vol. 28, No. 5, 2016 637 Received May 27, 2014, Revised December 17, 2014, Accepted for publication August 18, 2015 Corresponding author: Yutaka Hatano, Department of Dermatology, Faculty of Medicine, Oita University, 1-1 Idaigaoka, Hasama-Machi, Yufu City, Oita 879-5593, Japan. Tel: 81-97-586-5882, Fax: 81-97-586-5889, E-mail: [email protected] This is an Open Access article distributed unde...

Epidermal nevi are common congenital skin lesions with an incidence of 1 in 1,000 people; however, their genetic basis remains elusive. Germline mutations of the FGF receptor 3 (FGFR3) cause autosomal dominant skeletal disorders such as achondroplasia and thanatophoric dysplasia, which can be associated with acanthosis nigricans of the skin. Acanthosis nigricans and common epidermal nevi of the...