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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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AAAS (gene)

Introduction

Achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A), also known as AAAS, is a human gene responsible for Triple A syndrome (also known as Allgrove Syndrome).[1]

References

References

  1. ↑ “Entrez Gene: AAAS achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)”.
Further reading

Further reading

  • Maruyama K, Sugano S (1994). “Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides”. Gene. 138 (1–2): 171–4. PMID 8125298.
  • Weber A, Wienker TF, Jung M; et al. (1997). “Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster”. Hum. Mol. Genet. 5 (12): 2061–6. PMID 8968764.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). “Construction and characterization of a full length-enriched and a 5′-end-enriched cDNA library”. Gene. 200 (1–2): 149–56. PMID 9373149.
  • Tullio-Pelet A, Salomon R, Hadj-Rabia S; et al. (2000). “Mutant WD-repeat protein in triple-A syndrome”. Nat. Genet. 26 (3): 332–5. doi:10.1038/81642. PMID 11062474.
  • Handschug K, Sperling S, Yoon SJ; et al. (2001). “Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene”. Hum. Mol. Genet. 10 (3): 283–90. PMID 11159947.
  • Sandrini F, Farmakidis C, Kirschner LS; et al. (2001). “Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin”. J. Clin. Endocrinol. Metab. 86 (11): 5433–7. PMID 11701718.
  • Schmittmann-Ohters K, Huebner A, Richter-Unruh A, Hauffa BP (2002). “Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome”. Horm. Res. 56 (1–2): 67–72. PMID 11815731.
  • Goizet C, Catargi B, Tison F; et al. (2002). “Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation”. Neurology. 58 (6): 962–5. PMID 11914417.
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). “Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences”. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
  • Cronshaw JM, Matunis MJ (2003). “The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome”. Proc. Natl. Acad. Sci. U.S.A. 100 (10): 5823–7. doi:10.1073/pnas.1031047100. PMID 12730363.
  • Prpic I, Huebner A, Persic M; et al. (2003). “Triple A syndrome: genotype-phenotype assessment”. Clin. Genet. 63 (5): 415–7. PMID 12752575.
  • Ota T, Suzuki Y, Nishikawa T; et al. (2004). “Complete sequencing and characterization of 21,243 full-length human cDNAs”. Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Roubergue A, Apartis E, Vidailhet M; et al. (2004). “Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation”. Mov. Disord. 19 (3): 344–6. doi:10.1002/mds.10660. PMID 15022193.
  • Brooks BP, Kleta R, Caruso RC; et al. (2004). “Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report”. BMC ophthalmology. 4: 7. doi:10.1186/1471-2415-4-7. PMID 15217518.
  • Gerhard DS, Wagner L, Feingold EA; et al. (2004). “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)”. Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
  • Huebner A, Kaindl AM, Knobeloch KP; et al. (2005). “The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex”. Endocr. Res. 30 (4): 891–9. PMID 15666842.
  • Storr HL, Clark AJ, Priestley JV, Michael GJ (2005). “Identification of the sites of expression of triple A syndrome mRNA in the rat using in situ hybridisation”. Neuroscience. 131 (1): 113–23. doi:10.1016/j.neuroscience.2004.10.029. PMID 15680696.
  • Di Nardo G, Tullio-Pelet A, Annese V; et al. (2005). “Idiopathic achalasia is not allelic to alacrima achalasia adrenal insufficiency syndrome at the ALADIN locus”. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver. 37 (5): 312–5. doi:10.1016/j.dld.2004.11.006. PMID 15843079.
  • Li X, Ji C, Gu J; et al. (2005). “Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS”. Mol. Biol. Rep. 32 (2): 127–31. PMID 16022285.
  • Brooks BP, Kleta R, Stuart C; et al. (2005). “Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005”. Clin. Genet. 68 (3): 215–21. doi:10.1111/j.1399-0004.2005.00482.x. PMID 16098009.

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