AAAS (gene)


AAAS (gene)

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).cite web | title = Entrez Gene: AAAS achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8086| accessdate = ]

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References

Further reading

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

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