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2015 4
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Page 1
New classification and diagnostic criteria for insulin resistance syndrome.
Ogawa W, Araki E, Ishigaki Y, Hirota Y, Maegawa H, Yamauchi T, Yorifuji T, Katagiri H. Ogawa W, et al. Endocr J. 2022 Feb 28;69(2):107-113. doi: 10.1507/endocrj.EJ21-0725. Epub 2022 Feb 1. Endocr J. 2022. PMID: 35110500 Free article.
This syndrome is classified into two types: genetic insulin resistance syndrome, caused by gene abnormalities, and type B insulin resistance syndrome, caused by autoantibodies to the insulin receptor. ...Type B …
This syndrome is classified into two types: genetic insulin resistance syndrome, caused by gene abnormalities, and type …
Structure and function of the insulin receptor-a personal perspective.
Kasuga M. Kasuga M. Proc Jpn Acad Ser B Phys Biol Sci. 2019;95(10):581-589. doi: 10.2183/pjab.95.039. Proc Jpn Acad Ser B Phys Biol Sci. 2019. PMID: 31827016 Free PMC article. Review.
Immunoprecipitation with autoantibodies to the insulin receptor derived from patients with extreme insulin resistance and acanthosis nigricans revealed that the receptor is comprised of two subunits of 135 kDa (alpha subunit) and 95 kDa ( …
Immunoprecipitation with autoantibodies to the insulin receptor derived from patients with extreme insulin resistanc …
Mecasermin in Insulin Receptor-Related Severe Insulin Resistance Syndromes: Case Report and Review of the Literature.
Plamper M, Gohlke B, Schreiner F, Woelfle J. Plamper M, et al. Int J Mol Sci. 2018 Apr 24;19(5):1268. doi: 10.3390/ijms19051268. Int J Mol Sci. 2018. PMID: 29695048 Free PMC article. Review.
Mutations in the insulin receptor (INSR) gene underlie rare severe INSR-related insulin resistance syndromes (SIR), including insulin resistance type A, Rabson-Mendenhall syndrome and Donohue syndrome (DS), with DS represent …
Mutations in the insulin receptor (INSR) gene underlie rare severe INSR-related insulin resistance syndromes (SI …
Clinical characteristics of insulin resistance syndromes: A nationwide survey in Japan.
Takeuchi T, Ishigaki Y, Hirota Y, Hasegawa Y, Yorifuji T, Kadowaki H, Akamizu T, Ogawa W, Katagiri H. Takeuchi T, et al. J Diabetes Investig. 2020 May;11(3):603-616. doi: 10.1111/jdi.13171. Epub 2019 Dec 5. J Diabetes Investig. 2020. PMID: 31677333 Free PMC article.
AIMS/INTRODUCTION: Insulin resistance syndrome (IRS) of type A or B is triggered by gene abnormalities of or autoantibodies to the insulin receptor, respectively. Rabson-Mendenhall/Donohue syndrome is also caused by defects of the insu …
AIMS/INTRODUCTION: Insulin resistance syndrome (IRS) of type A or B is triggered by gene abnormalities of or aut …
A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans.
Tuhan H, Ceylaner S, Nalbantoğlu Ö, Acar S, Abacı A, Böber E, Demir K. Tuhan H, et al. J Clin Res Pediatr Endocrinol. 2017 Dec 15;9(4):371-374. doi: 10.4274/jcrpe.4577. Epub 2017 Jun 30. J Clin Res Pediatr Endocrinol. 2017. PMID: 28663160 Free PMC article.
Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder due to mutations in the insulin receptor gene (INSR) which is mapped to 19p13.2. RMS is characterized by acanthosis nigricans, generalized lanugo, tooth and nail dysplasia, high nasal …
Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder due to mutations in the insulin receptor gene (INSR) which …
Antibody-Mediated Extreme Insulin Resistance: A Report of Three Cases.
Kim HN, Fesseha B, Anzaldi L, Tsao A, Galiatsatos P, Sidhaye A. Kim HN, et al. Am J Med. 2018 Jan;131(1):102-106. doi: 10.1016/j.amjmed.2017.08.004. Epub 2017 Aug 16. Am J Med. 2018. PMID: 28822702
BACKGROUND: Type 2 diabetes mellitus is characterized by relative insulin deficiency and insulin resistance. Features suggesting severe insulin resistance include acanthosis nigricans, hyperandrogenism, weight loss, and recurrent hospital …
BACKGROUND: Type 2 diabetes mellitus is characterized by relative insulin deficiency and insulin resistance. Features suggesti …
A novel insulin receptor mutation in an adolescent with acanthosis nigricans and hyperandrogenism.
Krishnamurthy M, Pingul MM. Krishnamurthy M, et al. J Pediatr Endocrinol Metab. 2016 Oct 1;29(10):1201-1205. doi: 10.1515/jpem-2015-0384. J Pediatr Endocrinol Metab. 2016. PMID: 27505086
Insulin receptor mutations cause extreme insulin resistance resulting in acanthosis nigricans and hyperandrogenism. ...Our case highlights the importance of distinguishing insulin resistance commonly associated with obesity …
Insulin receptor mutations cause extreme insulin resistance resulting in acanthosis nigricans and …
A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome.
Ben Abdelaziz R, Ben Chehida A, Azzouz H, Boudabbous H, Lascols O, Ben Turkia H, Tebib N. Ben Abdelaziz R, et al. Eur J Med Genet. 2016 Jan;59(1):16-9. doi: 10.1016/j.ejmg.2015.11.015. Epub 2015 Dec 9. Eur J Med Genet. 2016. PMID: 26691667
Leprechaunism (Donohue syndrome) and Rabson-Mendenhall syndrome are caused by mutations in the insulin receptor gene and are associated with extreme insulin resistance. Clinically these syndromes appear to represent points on a continuum of severity of …
Leprechaunism (Donohue syndrome) and Rabson-Mendenhall syndrome are caused by mutations in the insulin receptor gene and are a …
FGF21 Normalizes Plasma Glucose in Mouse Models of Type 1 Diabetes and Insulin Receptor Dysfunction.
Diener JL, Mowbray S, Huang WJ, Yowe D, Xu J, Caplan S, Misra A, Kapur A, Shapiro J, Ke X, Wu X, Bose A, Panza D, Chen M, Beaulieu V, Gao J. Diener JL, et al. Endocrinology. 2021 Sep 1;162(9):bqab092. doi: 10.1210/endocr/bqab092. Endocrinology. 2021. PMID: 33951176
In this paper, we revisited the original finding and found that insulin-independent glucose uptake in adipocytes is preserved in the presence of an insulin receptor antagonist. Using a 40-kDa PEGylated (PEG) and half-life extended form of FGF21 (FGF21-PEG), we exten …
In this paper, we revisited the original finding and found that insulin-independent glucose uptake in adipocytes is preserved in the presenc …
Computational Analysis of Damaging Single-Nucleotide Polymorphisms and Their Structural and Functional Impact on the Insulin Receptor.
Mahmud Z, Malik SU, Ahmed J, Azad AK. Mahmud Z, et al. Biomed Res Int. 2016;2016:2023803. doi: 10.1155/2016/2023803. Epub 2016 Oct 20. Biomed Res Int. 2016. PMID: 27840822 Free PMC article.
Single amino acid substitutions in the insulin receptor (INSR) are the most common forms of genetic variations that account for various diseases like Donohue syndrome or Leprechaunism, Rabson-Mendenhall syndrome, and type A insulin resistance …
Single amino acid substitutions in the insulin receptor (INSR) are the most common forms of genetic variations that account fo …
40 results