Associated Papers
Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene.
Juścińska E et al.
Neurogenetics, 2026
The role of WD40 repeat-containing proteins in endocrine (dys)function.
Hu Y et al.
Journal of Molecular Endocrinology, 2023
Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.
Singh K et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.
Patt H et al.
Endocrine Connections, 2017
Genetic defects in pediatric-onset adrenal insufficiency in Japan.
Amano N et al.
European Journal of Endocrinology, 2017
The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation.
Carvalhal S et al.
Molecular Biology of the Cell, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome.
Toromanovic A et al.
European Journal of Pediatrics, 2009
A Novel V185DfsX4 Mutation of the AAAS Gene in a 2-year-old Boy with Triple A Syndrome.
Huynh T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2009
Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.
Koehler K et al.
European Journal of Human Genetics : Ejhg, 2008
Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.
Krumbholz M et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2006
The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex.
Huebner A et al.
Endocrine Research, 2004
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.
Brooks BP et al.
Bmc Ophthalmology, 2004
New insights into the molecular basis of the triple A syndrome.
Huebner A et al.
Endocrine Research, 2002
Analysis of the AAAS gene in a Japanese patient with triple A syndrome.
Katsumata N et al.
Endocrine Journal, 2002
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.
Handschug K et al.
Human Molecular Genetics, 2001