Results 141 to 150 of about 2,517,817 (182)

Wolfram syndrome and WFS1 gene

Clinical Genetics, 2010
Wolfram syndrome (WS) (MIM 222300) is a rare multisystem neurodegenerative disorder of autosomal recessive inheritance, also known as DIDMOAD (diabetes insipidus, insulin-deficient diabetes mellitus, optic atrophy and deafness). A Wolfram gene (WFS1) has been mapped to chromosome 4p16.1 which encodes an endoplasmic reticulum (ER) membrane-embedded ...
RIGOLI, Luciana Concetta, LOMBARDO, Fortunato, DI BELLA, Chiara   +2 more
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A single base-pair deletion in the WFS1 gene causes Wolfram syndrome

Journal of Pediatric Endocrinology and Metabolism, 2011
Wolfram syndrome is a progressive neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). The majority of cases are caused by mutations in the WFS1 gene. WFS1 is located at 4p16.1 and encodes wolframin, a transmembrane endoplasmic reticulum (ER) protein involved in the negative regulation of
Katherine, Pitt, Chela, James, Inderpal S, Kochar, Akshay, Kapoor, Shilpi, Jain, Khalid, Hussain, Kate, Bennett   +6 more
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Sex Differences in the Development of Diabetes in Mice with Deleted Wolframin (Wfs1) Gene

Experimental and Clinical Endocrinology & Diabetes, 2010
Wolfram syndrome, caused by mutations in the wolframin (Wfs1) gene, is characterised by juvenile-onset diabetes mellitus, progressive optic atrophy, diabetes insipidus and deafness. Diabetes tend to start earlier in boys. This study investigated sex differences in longitudinal changes in blood glucose concentration (BGC) in wolframin-deficient mice ...
Noormets, K., Kõks, S., Muldmaa, M., Mauring, L., Vasar, E., Tillmann, V.   +5 more
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Metabolomics of the Wolfram Syndrome 1 Gene ( Wfs1 ) Deficient Mice

OMICS: A Journal of Integrative Biology, 2017
Wolfram syndrome 1 is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Mutations in the WFS1 gene encoding the wolframin glycoprotein can lead to endoplasmic reticulum stress and unfolded protein responses in cells, but the pathophysiology at whole organism level ...
Rando, Porosk, Anton, Terasmaa, Riina, Mahlapuu, Ursel, Soomets, Kalle, Kilk   +4 more
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Cataract as a Phenotypic Marker for a Mutation in ^WFS1 , the Wolfram Syndrome Gene

European Journal of Ophthalmology, 2011
Purpose Wolfram syndrome (WS) or diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) (OMIM 222300) is an inherited neurodegenerative disease characterized by diabetes mellitus and optic atrophy as the 2 major criteria, followed later in life by deafness, diabetes insipidus, and various ...
Salah Mohamed Cherif, Titah, Isabelle, Meunier, Catherine, Blanchet, Severine, Lopez, Gerard, Rondouin, Guy, Lenaers, Patrizia, Amati-Bonneau, Pascal, Reynier, Veronique, Paquis-Flucklinger, Christian P, Hamel   +9 more
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Energy Metabolism and Thyroid Function of Mice with Deleted Wolframin (Wfs1) Gene

Experimental and Clinical Endocrinology & Diabetes, 2014
There is no data about the energy metabolism of patients with Wolfram syndrome caused by mutations in the wolframin (Wfs1) gene. The aim of this study was to investigate the role of Wfs1 in energy metabolism and thyroid function in Wfs1 deficient mice (Wfs1KO).
Noormets, K., Kõks, S., Ivask, M., Aunapuu, M., Arend, A., Vasar, E., Tillmann, V.   +6 more
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Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families

Clinical Genetics, 2004
Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by early onset diabetes mellitus and progressive optic atrophy. Patients with WS frequently develop deafness, diabetes insipidus, renal tract abnormalities, and diverse psychiatric illnesses, among others.
E, Domènech, M, Gómez-Zaera, V, Nunes
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Effect of 4-phenylbutyrate and valproate on dominant mutations of WFS1 gene in Wolfram syndrome

Journal of Endocrinological Investigation, 2020
Wolfram syndrome (WS) is a rare disorder caused by mutations in WFS1 that is characterized by diabetes mellitus, optic atrophy, sensorineural deafness, diabetes insipidus, and neurodegeneration. This disease is usually inherited as an autosomal recessive trait, but an autosomal dominant form has been reported.
K, Batjargal, T, Tajima, E F, Jimbo, T, Yamagata   +3 more
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Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees

Acta Diabetologica, 2016
Wolfram syndrome is a rare neurodegenerative disorder with an autosomal recessive pattern of inheritance characterized by various clinical manifestations. The related gene, WFS1, encodes a transmembrane glycoprotein, named wolframin. Genetic analyses demonstrated that mutations in this gene are associated with WS type 1.
Fatemeh Fardi Golyan, Nosrat Ghaemi, Mohammad Reza   +2 more
exaly   +3 more sources

First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene

Prenatal Diagnosis, 2004
AbstractWolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by early onset diabetes mellitus and progressive optic atrophy in the first decade of life. Other clinical features such as diabetes insipidus, deafness, renal tract abnormalities or psychiatric illnesses are often present.
Enric, Domènech, Helena, Kruyer, Carolina, Gómez, Maria Teresa, Calvo, Virginia, Nunes   +4 more
openaire   +2 more sources