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Page 1
Wolfram Syndrome 1: From Genetics to Therapy.
Rigoli L, Caruso V, Salzano G, Lombardo F. Rigoli L, et al. Int J Environ Res Public Health. 2022 Mar 9;19(6):3225. doi: 10.3390/ijerph19063225. Int J Environ Res Public Health. 2022. PMID: 35328914 Free PMC article. Review.
Furthermore, recessive Wolfram-like disease without DM has been described. The prognosis of WS1 is poor, and the death occurs prematurely. Although there are no therapies that can slow or stop WS1, a careful clinical monitoring can help patients during the rapid progressio …
Furthermore, recessive Wolfram-like disease without DM has been described. The prognosis of WS1 is poor, and the death occurs prematu …
Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease.
Rigoli L, Bramanti P, Di Bella C, De Luca F. Rigoli L, et al. Pediatr Res. 2018 May;83(5):921-929. doi: 10.1038/pr.2018.17. Epub 2018 Feb 28. Pediatr Res. 2018. PMID: 29774890 Review.
WS1 is a devastating disease for the patients and their families. Thus, early diagnosis is imperative to enable proper prognostication, prevent complications, and reduce the transmission to further progeny. ...
WS1 is a devastating disease for the patients and their families. Thus, early diagnosis is imperative to enable proper prognostication …
Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?
Frontino G, Di Tonno R, Stancampiano MR, Arrigoni F, Rigamonti A, Morotti E, Canarutto D, Bonfanti R, Russo G, Barera G, Piemonti L. Frontino G, et al. Front Endocrinol (Lausanne). 2023 Jun 13;14:1155644. doi: 10.3389/fendo.2023.1155644. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37383390 Free PMC article.
AIMS: Wolfram Syndrome Spectrum Disorder (WFS1-SD), in its "classic" form, is a rare autosomal recessive disease with poor prognosis and wide phenotypic spectrum. Insulin dependent diabetes mellitus (DM), optic atrophy (OA) diabetes insipidus (DI) and sensorineural deafnes …
AIMS: Wolfram Syndrome Spectrum Disorder (WFS1-SD), in its "classic" form, is a rare autosomal recessive disease with poor prognosis …
Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1.
Salzano G, Rigoli L, Valenzise M, Chimenz R, Passanisi S, Lombardo F. Salzano G, et al. Int J Environ Res Public Health. 2022 Jan 4;19(1):520. doi: 10.3390/ijerph19010520. Int J Environ Res Public Health. 2022. PMID: 35010780 Free PMC article.
Our data are superimposable with those reported in the literature in terms of mean age of onset, the clinical course of the disease, and causes of death. The frequency of deafness and diabetes insipidus was higher in our patients. ...
Our data are superimposable with those reported in the literature in terms of mean age of onset, the clinical course of the disease, …
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
CONCLUSIONS: Our study suggested that molecular WFS1 typing is a useful tool for early assessment of clinical history, follow-up, and prognosis of WS1....
CONCLUSIONS: Our study suggested that molecular WFS1 typing is a useful tool for early assessment of clinical history, follow-up, and pro …
Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.
Matsunaga K, Tanabe K, Inoue H, Okuya S, Ohta Y, Akiyama M, Taguchi A, Kora Y, Okayama N, Yamada Y, Wada Y, Amemiya S, Sugihara S, Nakao Y, Oka Y, Tanizawa Y. Matsunaga K, et al. PLoS One. 2014 Sep 11;9(9):e106906. doi: 10.1371/journal.pone.0106906. eCollection 2014. PLoS One. 2014. PMID: 25211237 Free PMC article.
Ages at onset of both DM and OA in patients with recessive WFS1 mutations were indistinguishable from those in patients without WFS1 mutations. In the patients with predicted complete loss-of-function mutations, ages at the onsets of both DM and OA were significantly earli …
Ages at onset of both DM and OA in patients with recessive WFS1 mutations were indistinguishable from those in patients without WFS1 mutatio …
A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment.
Kytövuori L, Hannula S, Mäki-Torkko E, Sorri M, Majamaa K. Kytövuori L, et al. Hear Res. 2017 Nov;355:97-101. doi: 10.1016/j.heares.2017.09.013. Epub 2017 Sep 28. Hear Res. 2017. PMID: 28974383
Identified variants were evaluated with respect to pathogenic potential. A rare mutation predicted to be pathogenic was found in a family with many members with impaired hearing. ...
Identified variants were evaluated with respect to pathogenic potential. A rare mutation predicted to be pathogenic was found in a fa …
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.
Qian X, Qin L, Xing G, Cao X. Qian X, et al. Sci Rep. 2015 Oct 5;5:14731. doi: 10.1038/srep14731. Sci Rep. 2015. PMID: 26435059 Free PMC article.
Furthermore, to identify the amino acid distributions and significances of pathogenic nsSNPs in the protein of WFS1, its transmembrane domain was constructed by the TMHMM server, which suggested that mutations outside of the TMhelix could have more effects on protein function. Th …
Furthermore, to identify the amino acid distributions and significances of pathogenic nsSNPs in the protein of WFS1, its transmembrane domai …
Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis.
Sherif M, Demirbilek H, Çayır A, Tahir S, Çavdarlı B, Demiral M, Cebeci AN, Vurallı D, Rahman SA, Unal E, Büyükyılmaz G, Baran RT, Özbek MN, Hussain K. Sherif M, et al. J Clin Res Pediatr Endocrinol. 2021 Feb 26;13(1):34-43. doi: 10.4274/jcrpe.galenos.2020.2020.0152. Epub 2020 Sep 17. J Clin Res Pediatr Endocrinol. 2021. PMID: 32938580 Free PMC article.
Mutations were classified according to results of "in silico" analyses, protein prediction, and functional consequences. RESULTS: Homozygosity mapping confirmed shared homozygous regions on chromosome 4 (chr4p16.1) between the affected individuals, that was absent in their …
Mutations were classified according to results of "in silico" analyses, protein prediction, and functional consequences. RESULTS: Hom …
12 results