about
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case reportThe nuclear pore complex protein ALADIN is mislocalized in triple A syndromeProteomic analysis of the mammalian nuclear pore complexNuclear envelope proteomics: novel integral membrane proteins of the inner nuclear membraneThe molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersTissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndromeThe WD-repeat protein superfamily in Arabidopsis: conservation and divergence in structure and functionIdiopathic (primary) achalasia: a reviewMutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndromeRole of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesisA novel AAAS gene mutation (p.R194X) in a patient with triple A syndromeThe triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complexMice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome.Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathwayTriple A syndrome mimicking ALS.Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.Tracing the origin of functional and conserved domains in the human proteome: implications for protein evolution at the modular level.Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanismDiseases of the nuclear envelope.Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Mutations of the AAAS gene in an Indian family with Allgrove's syndromeALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome.A novel presentation of familial glucocorticoid deficiency (FGD) and current literature review.New insights into human enteric neuropathies.Inherited adrenal hypoplasia: not just for kids!Decreased Expression of a Gene Caused by a T-DNA Insertion in an Adjacent Gene in Arabidopsis.The adrenal.SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.Molecular basis of adrenal insufficiency.Regulation of the adrenocortical stem cell niche: implications for diseaseFounder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.Longitudinal neuropsychological profile in a patient with triple a syndrome.A Case of Allgrove Syndrome with a Novel IVS7 +1 G>A Mutation of The AAAS Gene.Till disassembly do us part: a happy marriage of nuclear envelope and chromatin.Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia.Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.Incidence, clinical features and para-clinical findings of achalasia in Algeria: Experience of 25 years.Identification of a novel putative interaction partner of the nucleoporin ALADIN.Family case of achalasia cardia: case report and review of literatureFrom Bioinactive ACTH to ACTH Antagonist: The Clinical Perspective.
P2860
Q21260362-B41E35DC-B54F-458C-BD89-155A007E7CFCQ24301071-EE55EB55-CA72-4531-A07C-631C0328422AQ24305242-110A68D7-A968-4FF0-96B7-7099B9F07002Q24555150-4168F949-9A59-4AF8-BCCF-F08FA610A5F5Q24613957-79BB7BD8-CDF2-4303-A0B0-B7DCB2379C22Q24652922-5762E8D5-E5A7-42CA-8F15-36E899FD65BEQ24804811-AC5EA147-9C3D-49E5-80C3-C99AEC174CC4Q26801313-95A172EF-A7F0-4666-BC4D-4F8A8E80BC38Q28116031-5F8D81FA-12B2-4B08-8FF7-B78BDFB01911Q28260340-052175BE-2916-49A4-A275-C0EF8F32C315Q28302586-185AEED0-D205-4CDB-8E34-531762B4D2E7Q28303887-91279A43-F050-4E6F-9F69-13C486238180Q28589444-52EC2AD6-2F68-4467-9721-E64437A51337Q29017135-6348E635-BD7C-479F-829D-80470A822B12Q30319503-7E6A08C4-4428-4EE3-BCD3-74866573E963Q33161251-823A4E39-3249-4F5B-9A81-96B3CE2F5101Q33262935-B73A986F-41A9-4BFF-A6B9-651FBB621C20Q33512291-A9B33070-E940-4A26-8CBC-2B00F5463D0CQ33687043-FC54791B-61AA-4DD8-AC4D-1B17DED7571EQ33786829-CE89206F-7A96-49E7-BCBD-08AAE1C6DDF9Q33867899-45078943-3B3E-4E92-8EE7-15AA995C643DQ34478864-2F02281A-8DFE-403C-8291-F7F39AB34B74Q35666054-A1F0C16F-FBD5-43FD-85EF-108A21A670CEQ35738984-1C745B55-5468-4431-BD8C-C9E145BAA799Q35754297-8B76FE61-A45B-453A-BD67-D3100547B434Q35909538-653887B7-CBAC-46DD-8A8F-5433CA2ACD4BQ35946579-2CD24E90-F2A6-4B3C-8F4D-8E05CB524C7CQ36018583-2E121460-243E-4456-A2EE-12095CD2CD32Q36092182-F9D459B2-28AB-493E-A23F-1FBEFB4D4D8CQ36288064-5CAC3202-FB1F-49F1-BE1C-4DDA921A0F85Q36389835-8B4FB4D4-5B2D-4D9F-B190-4166B1911035Q36801480-EB9CAAF0-2C2A-4672-B8DA-053C521D55A3Q36943209-CACA4C72-BA80-42E3-BC7A-5835CE4A40CDQ37000133-C35B492C-C4B8-4886-B238-9298CFD8ABCDQ37166742-09E4F516-B822-432E-B653-865BB4449129Q37217021-052DF121-1B76-4FD9-B250-52A1F0AB5EFEQ37338978-AD201B3E-0115-4DD7-BE49-D6B15598537FQ37502230-DF7C50A5-377E-4E55-B724-F9F1A27EE3A5Q37578710-19A6D0F9-2423-4ABC-9410-B312F4AF8EFCQ37629815-7D730C88-66B7-429E-A622-AB1740AE6DFD
P2860
description
2000 nî lūn-bûn
@nan
2000 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Mutant WD-repeat protein in triple-A syndrome
@ast
Mutant WD-repeat protein in triple-A syndrome
@en
Mutant WD-repeat protein in triple-A syndrome
@nl
type
label
Mutant WD-repeat protein in triple-A syndrome
@ast
Mutant WD-repeat protein in triple-A syndrome
@en
Mutant WD-repeat protein in triple-A syndrome
@nl
prefLabel
Mutant WD-repeat protein in triple-A syndrome
@ast
Mutant WD-repeat protein in triple-A syndrome
@en
Mutant WD-repeat protein in triple-A syndrome
@nl
P2093
P50
P3181
P356
P1433
P1476
Mutant WD-repeat protein in triple-A syndrome
@en
P2093
A Tullio-Pelet
B Chaouachi
J L Chaussain
M H de Laet
M Nicolino
P2888
P3181
P356
10.1038/81642
P407
P577
2000-11-01T00:00:00Z