IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene

Molecular Genetics and Metabolism
Janna E HutzCatherine E Keegan

Abstract

The spontaneous mouse mutant adrenocortical dysplasia (acd) is characterized by defects in the adrenals, kidneys, and gonads of adult mutant mice and by caudal dysgenesis and vertebral segmentation defects in acd embryos. This association of defects mirrors those identified in patients with known or suspected abnormalities in adrenocortical development, including adrenal hypoplasia congenita and IMAGe association. The identification of the Acd gene in mice has prompted the study of its human homolog ACD, which has recently been shown to be a regulator of telomere length. Sequencing of ACD in 15 patients revealed no coding mutations, but three novel SNPs were identified.

References

Apr 1, 1994·The Journal of Endocrinology·W G BeamerM T Davisson
Jun 1, 1993·American Journal of Medical Genetics·G KrügerH Dunker
Jul 15, 1996·The Journal of Clinical Investigation·J A KuivenhovenJ J Kastelein
Jul 13, 2002·Science·William G FairbrotherChristopher B Burge
Aug 21, 2002·Trends in Endocrinology and Metabolism : TEM·Catherine E Keegan, Gary D Hammer
May 23, 2003·Human Molecular Genetics·Yi NingNan-Ping Weng
Dec 19, 2003·Nucleic Acids Research·Albin SandelinBoris Lenhard
May 22, 2004·Nature Reviews. Genetics·UNKNOWN International HapMap Consortium
Jun 8, 2004·Nature Cell Biology·Dan LiuZhou Songyang
Jul 3, 2004·Genes & Development·Jeffrey Zheng-Sheng YeTitia de Lange
Dec 8, 2004·The Journal of Clinical Endocrinology and Metabolism·Tomonobu HasegawaTsutomu Ogata
Mar 17, 2005·The Journal of Clinical Endocrinology and Metabolism·Ignacio BergadáSilvia Copelli

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Citations

May 31, 2008·Journal of Perinatology : Official Journal of the California Perinatal Association·T E Herman, M J Siegel
May 29, 2012·Nature Genetics·Valerie A ArboledaEric Vilain
Dec 1, 2010·Best Practice & Research. Clinical Endocrinology & Metabolism·Enzo Lalli
May 1, 2007·Clinical Endocrinology·Catherine E KeeganGary D Hammer
Nov 26, 2010·American Journal of Medical Genetics. Part a·Meena BalasubramanianDiana S Johnson
Mar 13, 2014·Reproductive Sciences·Hiroshi KobayashiYuki Yamada

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