Pages that link to "Q28142907"

The following pages link to Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene (Q28142907):

Displaying 50 items.

• Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report (Q21260362) (← links)
• cDNA and genomic cloning of lacritin, a novel secretion enhancing factor from the human lacrimal gland (Q24291355) (← links)
• The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome (Q24301071) (← links)
• Proteomic analysis of the mammalian nuclear pore complex (Q24305242) (← links)
• The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (Q24613957) (← links)
• Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome (Q24652922) (← links)
• Triple A syndrome: genotype–phenotype assessment (Q28204650) (← links)
• Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis (Q28260340) (← links)
• Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS (Q28261950) (← links)
• A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome (Q28302586) (← links)
• The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex (Q28303887) (← links)
• Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome (Q28589444) (← links)
• Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway (Q29017135) (← links)
• Triple A syndrome mimicking ALS. (Q30319503) (← links)
• Seven cDNAs enriched following hippocampal lesion: possible roles in neuronal responses to injury (Q30743778) (← links)
• Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome (Q33161251) (← links)
• Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism (Q33512291) (← links)
• Oxidative stress and adrenocortical insufficiency (Q33709973) (← links)
• Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy (Q33786829) (← links)
• Mutations of the AAAS gene in an Indian family with Allgrove's syndrome (Q33867899) (← links)
• Adrenal insufficiency (Q34203208) (← links)
• Recent insights into organogenesis of the adrenal cortex (Q34788514) (← links)
• Genetics of the adrenal gland (Q35668791) (← links)
• Inherited adrenal hypoplasia: not just for kids! (Q35754297) (← links)
• Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. (Q35768783) (← links)
• Decreased Expression of a Gene Caused by a T-DNA Insertion in an Adjacent Gene in Arabidopsis (Q35909538) (← links)
• The adrenal (Q35946579) (← links)
• Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases (Q36081264) (← links)
• The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation. (Q36115382) (← links)
• Genetics of ACTH insensitivity syndromes. (Q36179247) (← links)
• Premature Loss of Permanent Teeth in Allgrove (4A) Syndrome in Two Related Families (Q36244423) (← links)
• Longitudinal neuropsychological profile in a patient with triple a syndrome (Q36801480) (← links)
• 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 (Q37049119) (← links)
• Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction (Q37217021) (← links)
• Identification of a novel putative interaction partner of the nucleoporin ALADIN. (Q37502230) (← links)
• Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis. (Q37644970) (← links)
• The molecular basis of adrenocorticotrophin resistance syndrome. (Q37726405) (← links)
• Neurological features in adult Triple-A (Allgrove) syndrome. (Q37886860) (← links)
• Recent advances in clinical neurogenetics (Q38060657) (← links)
• Diagnosis and management of pediatric adrenal insufficiency. (Q38802469) (← links)
• A Novel V185DfsX4 Mutation of the AAAS Gene in a 2-year-old Boy with Triple A Syndrome (Q39067835) (← links)
• Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation (Q40293550) (← links)
• Triple A syndrome: two novel mutations in the AAAS gene. (Q41767693) (← links)
• Triple A (Allgrove) syndrome: an unusual association with syringomyelia (Q42055216) (← links)
• Intracellular ROS level is increased in fibroblasts of triple A syndrome patients (Q42475704) (← links)
• Genetic Evaluation of ALADIN Gene in Early-Onset Achalasia and Alacrima Patients (Q42732322) (← links)
• New insights into the molecular basis of the triple A syndrome (Q44280130) (← links)
• Isolation and characterization of human and mouse WDR19,a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium (Q44541707) (← links)
• Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy (Q44789944) (← links)
• Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe (Q46482605) (← links)