Literature DB >> 1330507

Mutations in the insulin receptor gene.

S I Taylor1, A Cama, D Accili, F Barbetti, M J Quon, M de la Luz Sierra, Y Suzuki, E Koller, R Levy-Toledano, E Wertheimer.   

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Year:  1992        PMID： 1330507     DOI： 10.1210/edrv-13-3-566

Source DB:  PubMed          Journal:  Endocr Rev        ISSN： 0163-769X            Impact factor:   19.871


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  64 in total

1.  Insulin receptor β-subunit haploinsufficiency impairs hippocampal late-phase LTP and recognition memory.

Authors:  Robert Nisticò; Virve Cavallucci; Sonia Piccinin; Simone Macrì; Marco Pignatelli; Bisan Mehdawy; Fabio Blandini; Giovanni Laviola; Davide Lauro; Nicola B Mercuri; Marcello D'Amelio
Journal:  Neuromolecular Med       Date:  2012-06-03       Impact factor: 3.843

2.  Association of the insulin-receptor variant Met-985 with hyperglycemia and non-insulin-dependent diabetes mellitus in the Netherlands: a population-based study.

Authors:  L M Hart; R P Stolk; R J Heine; D E Grobbee; F E van der Does; J A Maassen
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

3.  Perspectives in Polycystic Ovary Syndrome: From Hair to Eternity.

Authors:  Andrea Dunaif
Journal:  J Clin Endocrinol Metab       Date:  2016-02-23       Impact factor: 5.958

Review 4.  Signalling through the insulin receptor and the insulin-like growth factor-I receptor.

Authors:  E Van Obberghen
Journal:  Diabetologia       Date:  1994-09       Impact factor: 10.122

5.  SSCP analysis of the tyrosine kinase domain of the insulin receptor gene: polymorphisms detected in South African black and white subjects.

Authors:  V R Panz; P Ruff; B I Joffe; M A Kedda; H C Seftel
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132

Review 6.  Genetics of insulin resistance.

Authors:  Maria M Mercado; John C McLenithan; Kristi D Silver; Alan R Shuldiner
Journal:  Curr Diab Rep       Date:  2002-02       Impact factor: 4.810

7.  Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation.

Authors:  Tinka Hovnik; Nevenka Bratanič; Katarina Trebušak Podkrajšek; Jernej Kovač; Darja Paro; Tomaž Podnar; Nataša Bratina; Tadej Battelino
Journal:  Eur J Pediatr       Date:  2012-12-11       Impact factor: 3.183

8.  Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.

Authors:  Carlo Colombo; Ottavia Porzio; Ming Liu; Ornella Massa; Mario Vasta; Silvana Salardi; Luciano Beccaria; Carla Monciotti; Sonia Toni; Oluf Pedersen; Torben Hansen; Luca Federici; Roberta Pesavento; Francesco Cadario; Giorgio Federici; Paolo Ghirri; Peter Arvan; Dario Iafusco; Fabrizio Barbetti
Journal:  J Clin Invest       Date:  2008-06       Impact factor: 14.808

Review 9.  Insulin resistance and the polycystic ovary syndrome revisited: an update on mechanisms and implications.

Authors:  Evanthia Diamanti-Kandarakis; Andrea Dunaif
Journal:  Endocr Rev       Date:  2012-10-12       Impact factor: 19.871

10.  Tyrosine kinase-deficient mutant human insulin receptors (Met1153-->Ile) overexpressed in transfected rat adipose cells fail to mediate translocation of epitope-tagged GLUT4.

Authors:  M J Quon; M Guerre-Millo; M J Zarnowski; A J Butte; M Em; S W Cushman; S I Taylor
Journal:  Proc Natl Acad Sci U S A       Date:  1994-06-07       Impact factor: 11.205
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