Results 151 to 160 of about 2,517,817 (182)

Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans [PDF]

European Journal of Human Genetics, 2013
Congenital cataracts are an important cause of bilateral visual impairment in infants. Through genome-wide linkage analysis in a four-generation family of Irish descent, the disease-associated gene causing autosomal-dominant congenital nuclear cataract ...
Vanita Berry, Anthony Moore, Cheryl Gregory-Evans   +2 more
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Analysis of Expression of Genes CLN3, GABBR1, and WFS1 in Patients with Parkinson’s Disease

Molecular Genetics, Microbiology and Virology, 2020
Parkinson’s disease (PD) is one of the most common neurodegenerative pathologies. This disorder is associated with death of predominantly dopaminergic neurons. A characteristic feature of PD is a long latent period of disease development, which makes it impossible to investigate and diagnose PD at the earliest clinical stages.
Yu. S. Starovatykh, M. M. Rudenok, A. V. Karabanov, S. N. Illarioshkin, P. A. Slominsky, M. I. Shadrina, A. Kh. Alieva   +6 more
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Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder

Molecular Genetics and Metabolism, 2004
Diabetic and psychiatric symptoms often appear in patients with Wolfram syndrome, and obligate carriers of WFS1 have increased prevalence of type 2 diabetes and are more likely to require hospitalization for psychiatric illness including bipolar disorder.
Takanori, Kawamoto, Yukio, Horikawa, Takeshi, Tanaka, Noriko, Kabe, Jun, Takeda, Masahiko, Mikuni   +5 more
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Altered expression of WFS1 and NOTCH2 genes associated with diabetic nephropathy in T2DM patients

Diabetes Research and Clinical Practice, 2018
The increased incidence of type 2 diabetes mellitus (T2DM) and the importance of early identification and management of its complications, especially diabetic nephropathy (DN), have spotted the light on genetic factors that increase risk of T2DM and its related nephropathy.
Sahar A, Sharaf, Nagwa A, Kantoush, Dina F, Ayoub, Alshaymaa A, Ibrahim, Amaal A, Abdelaal, Rokaya Abdel, Aziz, Mahmoud M, ElHefnawi, Amira N, Ahmed   +7 more
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Relation of exploratory behaviour to plasma corticosterone and Wfs1 gene expression in Wistar rats

Journal of Psychopharmacology, 2009
Male Wistar rats exhibit significant variations in exploratory behaviour in the elevated plus-maze (EPM) model of anxiety. We have now investigated the relation between exploratory behaviour and levels of corticosterone and systemic oxidative stress. Also, the expression levels of endocannabinoid-related and wolframin (Wfs1) genes were measured in the ...
Sütt, S., Raud, S., Abramov, U., Innos, J., Luuk, H., Plaas, M., Kõks, S., Zilmer, K., Mahlapuu, R., Zilmer, M., Vasar, E.   +10 more
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The WFS1 (Wolfram syndrome 1) is not a major susceptibility gene for the development of psychiatric disorders

Psychiatric Genetics, 2003
Wolfram syndrome is a neurodegenerative disorder that is inherited in an autosomal recessive mode and characterized by the presence of diabetes mellitus and optic atrophy. Patients and heterozygote carriers are at an increased risk of suffering psychiatric disorders.
Lourdes, Martorell, Montse Gómez, Zaera, Joaquín, Valero, Dolors, Serrano, Lídia, Figuera, Jorge, Joven, Antonio, Labad, Elisabet, Vilella, Virginia, Nunes   +8 more
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c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness

European Journal of Medical Genetics, 2016
Wolfram syndrome is one of the rare autosomal recessive, progressive, neurodegenerative disorders, characterized by diabetes mellitus and optic atrophy. Several other features are observed in patients including deafness, ataxia, and peripheral neuropathy. A gene called WFS1 is identified on chromosome 4p, responsible for Wolfram syndrome.
Behnam Safarpour Lima, Hamid Ghaedi, Narsis Daftarian, Hamid Ahmadieh, Javad Jamshidi, Mehdi Khorrami, Rezvan Noroozi, Nasim Sohrabifar, Farhad Assarzadegan, Omid Hesami, Shaghayegh Taghavi, Azadeh Ahmadifard, Minoo Atakhorrami, Simin Rahimi-Aliabadi, Neda Shahmohammadibeni, Elham Alehabib, Monavvar Andarva, Hossein Darvish, Babak Emamalizadeh   +18 more
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[Wolfram syndrome: clinical features, molecular genetics of WFS1 gene].

Nihon rinsho. Japanese journal of clinical medicine, 2015
Wolfram syndrome(WFS: OMIM 222300) is a rare recessive neuro-endocrine degenerative disorder, known as DIDMOAD(Diabetes Insipidus, early-onset Diabetes Mellitus, Optic Atrophy and Deafness) syndrome. Most affected individuals carry recessive mutations in the Wolfram syndrome 1 gene(WFS1).
Katsuya, Tanabe, Kimie, Matsunaga, Masayuki, Hatanaka, Masaru, Akiyama, Yukio, Tanizawa   +4 more
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[A novel mutation of WFS1 gene in Chinese patients with Wolfram syndrome].

Zhonghua yi xue za zhi, 2014
Wolfram syndrome is an autosomal recessive disorder characterized by early-onset diabetes mellitus, diabetes insipidus, optic atrophy and deafness. The aim of this study was to scan the WFS1 gene mutations in a Chinese Wolfram syndrome pedigree.Eight exons and flanking introns of WFS1 gene were screened using PCR-DNA direct sequencing.
Qi-chen, Fang, Wei-ping, Jia, Rong, Zhang, Qing, Li, Cheng, Hu, Xin-yu, Shao, Hua-qi, Chai, Hui-juan, Lu, Kun-san, Xiang   +8 more
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Wolfram syndrome: Phenotypic heterogeneity and novel genetic variants in the WFS1 gene

Endocrinología, Diabetes y Nutrición, 2022
Joana Lima Ferreira, Vanessa Carvalho, Filipa Espada, João Massano, Ana Paula Marques, Rosa Maria Príncipe   +5 more
openaire   +2 more sources