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Page 1
Wolfram syndrome: Portuguese research.
Ferreras C, Gorito V, Pedro J, Ferreira S, Costa C, Santos Silva R, Castro Correia C. Ferreras C, et al. Endokrynol Pol. 2021;72(4):353-356. doi: 10.5603/EP.a2021.0038. Epub 2021 May 19. Endokrynol Pol. 2021. PMID: 34010437 Free article.
It is an autosomal recessive disorder, mostly involving the Wolfram syndrome 1 gene (WFS1). The phenotypic pleiomorphism, rarity, and molecular complexity complicate the follow-up of these patients. ...
It is an autosomal recessive disorder, mostly involving the Wolfram syndrome 1 gene (WFS1). The phenotypic pleiomorphis …
Wolfram syndrome 1 regulates sleep in dopamine receptor neurons by modulating calcium homeostasis.
Hao H, Song L, Zhang L. Hao H, et al. PLoS Genet. 2023 Jul 3;19(7):e1010827. doi: 10.1371/journal.pgen.1010827. eCollection 2023 Jul. PLoS Genet. 2023. PMID: 37399203 Free PMC article.
Sleep disruptions are quite common in psychological disorders, but the underlying mechanism remains obscure. Wolfram syndrome 1 (WS1) is an autosomal recessive disease mainly characterized by diabetes insipidus/mellitus, neurodegeneration and psychological di …
Sleep disruptions are quite common in psychological disorders, but the underlying mechanism remains obscure. Wolfram syndrome …
Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations.
Rigoli L, Aloi C, Salina A, Di Bella C, Salzano G, Caruso R, Mazzon E, Maghnie M, Patti G, D'Annunzio G, Lombardo F. Rigoli L, et al. Pediatr Res. 2020 Feb;87(3):456-462. doi: 10.1038/s41390-019-0487-4. Epub 2019 Jul 2. Pediatr Res. 2020. PMID: 31266054
OBJECTIVES: We studied 45 patients with Wolfram syndrome 1 (WS1) to describe their clinical history and to search for possible genotype-phenotype correlations. ...
OBJECTIVES: We studied 45 patients with Wolfram syndrome 1 (WS1) to describe their clinical history and to search for p …
β-cyclodextrin based nano gene delivery using pharmaceutical applications to treat Wolfram syndrome.
Quintas PC, Al-Salami H, Pfaff A, Li D, Koks S. Quintas PC, et al. Ther Deliv. 2022 Sep;13(9):449-462. doi: 10.4155/tde-2022-0036. Epub 2023 Feb 7. Ther Deliv. 2022. PMID: 36748654 Review.
Gene therapy approach to introduce a functional gene using a viral or a non-viral vector could be a treatment strategy for Wolfram syndrome 1 (WS1). Viral vectors have therapeutic benefits and greater efficiency; however, they pose a high health risk. ...
Gene therapy approach to introduce a functional gene using a viral or a non-viral vector could be a treatment strategy for Wolfram …
Disrupted compensatory response mediated by Wolfram syndrome 1 protein and corticotrophin-releasing hormone family peptides in early-onset intrahepatic cholestasis pregnancy.
Xu T, Zhou Z, Liu N, Deng C, Huang G, Zhou F, Liu X, Wang X. Xu T, et al. Placenta. 2019 Aug;83:63-71. doi: 10.1016/j.placenta.2019.06.378. Epub 2019 Jun 22. Placenta. 2019. PMID: 31477210
Corticotrophin-releasing hormone (CRH), urocortin (UCN), and Wolfram syndrome 1 (WFS1) proteins may have a compensatory response to hypoxic stress. ...
Corticotrophin-releasing hormone (CRH), urocortin (UCN), and Wolfram syndrome 1 (WFS1) proteins may have a compensatory …
Dissecting the nutrigenomics, diabetes, and gastrointestinal disease interface: from risk assessment to health intervention.
Ferguson LR. Ferguson LR. OMICS. 2008 Dec;12(4):237-44. doi: 10.1089/omi.2008.0044. OMICS. 2008. PMID: 18710364 Review.
Four key genes were originally identified: KCNJ11, potassium inwardly rectifying channel, subfamily J, member 11 gene; PPAR-gamma, peroxisome proliferator activated receptor-gamma; TCF2, transcription factor 2, hepatic; WFS1, Wolfram syndrome 1. However, geno …
Four key genes were originally identified: KCNJ11, potassium inwardly rectifying channel, subfamily J, member 11 gene; PPAR-gamma, peroxisom …
The miR-668 binding site variant rs1046322 on WFS1 is associated with obesity in Southeast Asians.
Hammad MM, Abu-Farha M, Hebbar P, Anoop E, Chandy B, Melhem M, Channanath A, Al-Mulla F, Thanaraj TA, Abubaker J. Hammad MM, et al. Front Endocrinol (Lausanne). 2023 Oct 4;14:1185956. doi: 10.3389/fendo.2023.1185956. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37859980 Free PMC article.
The Wolfram syndrome 1 gene (WFS1) is the main causative locus for Wolfram syndrome, an inherited condition characterized by childhood-onset diabetes mellitus, optic atrophy, and deafness. ...
The Wolfram syndrome 1 gene (WFS1) is the main causative locus for Wolfram syndrome, an inherited condition characteriz …
High Frequency of Recessive WFS1 Mutations Among Indian Children With Islet Antibody-negative Type 1 Diabetes.
Menon JC, Singh P, Archana A, Singh P, Mittal M, Kanga U, Mandal K, Seth A, Bhatia V, Dabadghao P, Sudhanshu S, Garg A, Vishwakarma R, Sarangi AN, Verma S, Singh SK, Bhatia E. Menon JC, et al. J Clin Endocrinol Metab. 2024 Feb 20;109(3):e1072-e1082. doi: 10.1210/clinem/dgad644. J Clin Endocrinol Metab. 2024. PMID: 37931151
These included 7 children with homozygous and 1 patient each with a compound heterozygous and heterozygous mutation. Children with Wolfram syndrome 1 (WS) presented with severe insulin-requiring diabetes (including 3 patients with ketoacidosis), but other syn …
These included 7 children with homozygous and 1 patient each with a compound heterozygous and heterozygous mutation. Children with Wolfra …
18 results