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
Familial colorectal cancer: search for novel predisposition genes.
Försti A et al.
Human Genomics, 2025
Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers.
Försti A et al.
International Journal of Cancer, 2025
Insights into genetic and clinical profiles of triple A syndrome in Sudanese children.
Musa SA et al.
Frontiers in Endocrinology, 2025
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis.
Belmokhtar KY et al.
Molecular Syndromology, 2024
Fertility and sexual activity in patients with Triple A syndrome.
Dumic KK et al.
Frontiers in Endocrinology, 2024
Very early and severe presentation of Triple A syndrome - case report and review of the literature.
Cehic M et al.
Frontiers in Endocrinology, 2024
The role of WD40 repeat-containing proteins in endocrine (dys)function.
Hu Y et al.
Journal of Molecular Endocrinology, 2023
Two novel truncating variants of the AAAS gene causative of the triple A syndrome.
Vezzoli V et al.
Journal of Endocrinological Investigation, 2020
Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome.
Bitetto G et al.
Human Molecular Genetics, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Triple A syndrome (Allgrove syndrome): improving outcomes with a multidisciplinary approach.
Flokas ME et al.
Pediatric Health, Medicine and Therapeutics, 2019
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
Clinical and genetic characterisation of a series of patients with triple A syndrome.
Kurnaz E et al.
European Journal of Pediatrics, 2018
Triple A patient cells suffering from mitotic defects fail to localize PGRMC1 to mitotic kinetochore fibers.
Jühlen R et al.
Cell Division, 2018
Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.
Patt H et al.
Endocrine Connections, 2017
Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome.
Kallabi F et al.
Archives of Medical Research, 2016
The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation.
Carvalhal S et al.
Molecular Biology of the Cell, 2015
Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases.
Li W et al.
Experimental and Therapeutic Medicine, 2015
A Tunisian patient with two rare syndromes: triple a syndrome and congenital hypogonadotropic hypogonadism.
Cherif Ben Abdallah L et al.
Hormone Research in Paediatrics, 2014
Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.
Dumic M et al.
European Journal of Pediatrics, 2012
Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy.
Dumić M et al.
European Journal of Pediatrics, 2011
Triple A syndrome: 32 years experience of a single centre (1977-2008).
Milenkovic T et al.
European Journal of Pediatrics, 2010
Adult or late-onset triple A syndrome: case report and literature review.
Nakamura K et al.
Journal of the Neurological Sciences, 2010
Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism.
Storr HL et al.
Molecular Endocrinology (baltimore, Md.), 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 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
Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation.
Milenković T et al.
European Journal of Pediatrics, 2008
Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management.
Salmaggi A et al.
Hormone Research, 2008
Unusual presentation of triple A syndrome mimicking Sjögren's syndrome.
Onat AM et al.
Clinical Rheumatology, 2007
[Allgrove syndrome in the mainland of China: clinical report and mutation analysis].
Gong CX et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007
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
Triple A syndrome: genotype-phenotype assessment.
Prpic I et al.
Clinical Genetics, 2003
Chromosomal fragility in patients with triple A syndrome.
Reshmi-Skarja S et al.
American Journal of Medical Genetics. Part A, 2003
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