about
Wolfram Syndrome presenting with optic atrophy and diabetes mellitus: two case reportsA gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)The E3 ligase Smurf1 regulates Wolfram syndrome protein stability at the endoplasmic reticulumGenome-edited human stem cell-derived beta cells: a powerful tool for drilling down on type 2 diabetes GWAS biologyWolfram Syndrome: Diagnosis, Management, and TreatmentEndoplasmic reticulum stress in the β-cell pathogenesis of type 2 diabetesExpression and localization of Wolfram syndrome 1 gene in the developing rat pancreasCisd2 deficiency drives premature aging and causes mitochondria-mediated defects in miceAudiologic and vestibular findings in Wolfram syndromeDominant optic atrophy.Combined occurrence of diabetes mellitus and retinitis pigmentosa.Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4qA review and evaluation of research on the deaf-blind from perceptual, communicative, social and rehabilitative perspectives.Pancreatic and duodenal homeobox protein 1 (Pdx-1) maintains endoplasmic reticulum calcium levels through transcriptional regulation of sarco-endoplasmic reticulum calcium ATPase 2b (SERCA2b) in the islet β cell.A calcium-dependent protease as a potential therapeutic target for Wolfram syndromeCentral nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndromeEURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.Comprehensive Review of the Effects of Diabetes on Ocular Health.CISD2 associated with proliferation indicates negative prognosis in patients with hepatocellular carcinomaBiallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.RNA-sequencing of WFS1-deficient pancreatic islets.Phenotypic characteristics of early Wolfram syndromeThe unfolded protein response: a pathway that links insulin demand with beta-cell failure and diabetesDiabetes mellitus, diabetes insipidus, optic atrophy, and deafness: A case of Wolfram (DIDMOAD) syndromeMale mice with deleted Wolframin (Wfs1) gene have reduced fertility.β-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome.The binary switch between life and death of endoplasmic reticulum-stressed beta cellsWS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.A switch from life to death in endoplasmic reticulum stressed β-cells.The unfolded protein response is required to maintain the integrity of the endoplasmic reticulum, prevent oxidative stress and preserve differentiation in β-cells.The binary switch that controls the life and death decisions of ER stressed β cells.Familial forms of diabetes insipidus: clinical and molecular characteristics.Syndromes of hearing loss associated with visual loss.Cisd2 mediates lifespan: is there an interconnection among Ca²⁺ homeostasis, autophagy, and lifespan?Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes.CISD2 expression is a novel marker correlating with pelvic lymph node metastasis and prognosis in patients with early-stage cervical cancer.Genetic Factors of Diabetes.Mitochondrial abnormalities drive cell death in Wolfram syndrome 2.A Case of Persistent Polyuria in an Insulin- Dependent Child With Diabetes.WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells.
P2860
Q21198799-FC40E132-511C-4B95-9A19-701BE460A19CQ22003951-023698C4-9823-4450-BED8-77432CC783C0Q24298474-426BC245-EC71-4513-B545-9168D6E0A912Q26742051-F0436BCF-2D74-4380-BF81-36FE20318DE2Q26770241-552646BC-777B-4E25-A7FD-F4A1A178772CQ26864340-51601DCC-6963-45B6-ACE9-F271C2C60B67Q28568526-00105F2B-750B-4812-812F-E5E6C190688AQ28594937-BAC1A05F-000A-4FBB-9F94-25B35C3C9565Q30426994-D04E8C90-0865-4911-8246-86DF89EDAED2Q30459784-20A91B5B-8F8E-4F9D-A736-997FFC87E2DEQ33772133-5DC154B1-05FC-4168-A0EC-4CC4BE109A2FQ34145527-4479D97B-3EC8-4553-A7B3-67673A6E41C2Q34284708-654C86F2-43FC-42C4-8026-E32C079BF90DQ34552701-618FFA02-740E-49FE-AA10-41B9BF313756Q34709034-ED234E0F-DE94-4C0B-9E26-3DDBB8ACD579Q34776001-94535737-D224-4EF4-BBB7-0EC22273B562Q34975099-B57CE32F-D9B3-4819-BD02-348DEEB9B765Q35099333-5C3AAA90-08E2-4A38-B6A4-E49C67D65D35Q36375646-86EEF0A9-053F-439A-8EF9-781967A589F0Q36695758-2B54B091-E206-4F9A-AB26-023BA9FD5C98Q36797423-5147829A-83AE-42FE-BE8F-0964F8BDAC1BQ36835117-59C3C450-8C6A-4B38-B65C-C858DC9D9B49Q36861041-E105CDA0-34D5-477A-9629-75BF1EA1B0D1Q36938313-D68F3077-124E-4E65-BC84-AAD68C1F5828Q37325608-D947FB06-19A7-442C-B842-F03A4F132D6BQ37597032-C4FCE73B-9942-45F2-8EEC-F0E472408EACQ37685975-026440D3-83AE-4F7C-AD2C-10A2C2A88373Q37802785-9BA8FB44-FC02-40BA-A301-86415CC0FF0BQ37804455-59727BA9-E4FF-4DDF-9A95-856C7A4D6A1BQ37804460-376D6C02-AC21-486E-B9DE-70EFFF66EA8AQ37822114-E3BCA192-E797-4A06-9E50-18F5E00CDB77Q37897472-1A4C395C-5629-48F8-99DF-2092C941920DQ38103179-22B29DFE-527E-4735-AF52-2E4F743F63F1Q38224173-66CCD99C-7566-4D84-A729-B9D5F395046EQ38808702-DA6D9F47-07A8-46EE-8709-8ED91D8D55C1Q38964836-0E7ED5B0-CEFB-4CF3-8DEA-8C19A1BAB9D8Q39084940-FC1EDFCD-8FFB-4CBB-9922-870524374D14Q39427543-95C33228-4415-4063-9E57-2CAF404B6522Q40236697-A8B31896-2F14-42E8-A55A-806DC8A478FAQ40367285-437C1827-27BE-4BB5-B64F-A58BB4E58836
P2860
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
1997年论文
@zh
1997年论文
@zh-cn
name
Wolfram (DIDMOAD) syndrome.
@en
type
label
Wolfram (DIDMOAD) syndrome.
@en
prefLabel
Wolfram (DIDMOAD) syndrome.
@en
P2860
P356
P1476
Wolfram (DIDMOAD) syndrome
@en
P2093
S E Bundey
P2860
P304
P356
10.1136/JMG.34.10.838
P407
P577
1997-10-01T00:00:00Z