Literature DB >> 8105179

Leprechaunism and homozygous nonsense mutation in the insulin receptor gene.

H Psiachou, S Mitton, J Alaghband-Zadeh, J Hone, S I Taylor, L Sinclair.   

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Year:  1993        PMID： 8105179     DOI： 10.1016/0140-6736(93)91970-w

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  6 in total

1.  Decreased half-life of insulin-like growth factor I in Rabson-Mendenhall syndrome.

Authors:  N Longo; R Singh; L J Elsas
Journal:  J Inherit Metab Dis       Date:  2001-10       Impact factor: 4.982

Review 2.  Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

Authors:  Laura M McDonell; Kristin D Kernohan; Kym M Boycott; Sarah L Sawyer
Journal:  Hum Mol Genet       Date:  2015-07-07       Impact factor: 6.150

3.  Targeted disruption of the insulin receptor gene in the mouse results in neonatal lethality.

Authors:  R L Joshi; B Lamothe; N Cordonnier; K Mesbah; E Monthioux; J Jami; D Bucchini
Journal:  EMBO J       Date:  1996-04-01       Impact factor: 11.598

4.  Rare loss of function variants in the hepatokine gene INHBE protect from abdominal obesity.

Authors:  Aimee M Deaton; Aditi Dubey; Lucas D Ward; Peter Dornbos; Jason Flannick; Elaine Yee; Simina Ticau; Leila Noetzli; Margaret M Parker; Rachel A Hoffing; Carissa Willis; Mollie E Plekan; Aaron M Holleman; Gregory Hinkle; Kevin Fitzgerald; Akshay K Vaishnaw; Paul Nioi
Journal:  Nat Commun       Date:  2022-07-27       Impact factor: 17.694

5.  Classic Case Report of Donohue Syndrome (Leprechaunism; OMIM *246200): The Impact of Consanguineous Mating.

Authors:  Yousif Nijim; Youssef Awni; Amin Adawi; Abdalla Bowirrat
Journal:  Medicine (Baltimore)       Date:  2016-02       Impact factor: 1.817

Review 6.  Transcriptional Regulation of INSR, the Insulin Receptor Gene.

Authors:  Sandhya Payankaulam; Ana-Maria Raicu; David N Arnosti
Journal:  Genes (Basel)       Date:  2019-11-29       Impact factor: 4.096
  6 in total

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