Results 101 to 110 of about 5,313 (208)

Ärevuse molekulaarsete mehhanismide uurimine emastel Wfs1-puudulikkusega hiirtel [PDF]

, 2018
Väitekirja elektrooniline versioon ei sisalda publikatsiooneWolframi sündroom on pärilik neurodegeneratiivne haigus, mille teket seostatakse mutatsioonidega WFS1 geenis.
Altpere, Alina
core  

miRNA Sensor HuR Compartmentalizes Ago2‐Uncoupled miRNAs to Lipid Droplets to Buffer miRNA Activity in Mammalian Cells

The FASEB Journal, Volume 40, Issue 11, 15 June 2026.
This study revealed a dose‐dependent miRNA buffering mechanism involving extracellular export and storage of miRNA on lipid droplets. The protein HuR facilitates miRNA buffering by dissociating miRNAs from Ago2 and promoting miRNA accumulation on lipid droplets or its extracellular export, depending on cellular requirements.
Sreemoyee Chakraborty, Diptankar Bandyopadhyay, Kamalika Mukherjee, Suvendra N. Bhattacharyya   +3 more
wiley   +1 more source

Micro-RNA Binding Site Polymorphisms in the WFS1 Gene Are Risk Factors of Diabetes Mellitus. [PDF]

PLoS ONE, 2015
The absolute or relative lack of insulin is the key factor in the pathogenesis of diabetes mellitus. Although the connection between loss of function mutations of the WFS1 gene and DIDMOAD-syndrome including diabetes mellitus underpins the significance ...
Zsuzsanna Elek, Nóra Németh, Géza Nagy, Helga Németh, Anikó Somogyi, Nóra Hosszufalusi, Mária Sasvári-Székely, Zsolt Rónai   +7 more
doaj   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR ‐Gene Family

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1286-1305, June 2026.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings

BMC Medical Genetics, 2008
Background Low frequency sensorineural hearing loss (LFSNHL) is an uncommon clinical finding. Mutations within three different identified genes (DIAPH1, MYO7A, and WFS1) are known to cause LFSNHL.
Verrall Aimee M, Kallman Jeremy C, Bramhall Naomi F, Street Valerie A   +3 more
doaj   +1 more source

A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome

bioRxiv
Aims/hypothesis Wolfram Syndrome 1 (WS1) is an inherited condition mainly manifesting in childhood-onset diabetes mellitus and progressive optic nerve atrophy.
Raniero Chimienti, Silvia Torchio, G. Siracusano, V. Zamarian, Laura Monaco, M. T. Lombardo, S. Pellegrini, Fabio Manenti, Federica Cuozzo, G. Rossi, Paola Carrera, V. Sordi, Vania Broccoli, R. Bonfanti, Giorgio Casari, G. Frontino, L. Piemonti   +16 more
semanticscholar   +1 more source

Neuroprotective Properties of Litchi chinensis and Its Phytochemicals in Preclinical Models of Alzheimer's Disease

Brain and Behavior, Volume 16, Issue 5, May 2026.
ABSTRACT Purpose Alzheimer's disease (AD) is a progressive neurodegenerative disorder involving amyloid‐β deposition, tau hyperphosphorylation, oxidative stress, and neuroinflammation. This review systematically evaluates the neuroprotective effects of Litchi chinensis and its phytochemicals against AD, focusing on modulation of Aβ accumulation, tau ...
Emon Mia, Md. Arif Hossain, Asmaul Husna Bristy, Rakib Hossan, Uzma Asif, Asif Khan Sherwani, Mohammad Y. Alshahrani, Samy Selim, Imam Hossen Rakib, Noshin Tasnim Yana, Khadija Akter, Md. Sakib Al Hasan   +11 more
wiley   +1 more source

High prevalence of maturity‐onset diabetes of the young in the Czech Republic: A 25‐year nationwide registry‐based study

Diabetic Medicine, Volume 43, Issue 5, May 2026.
Abstract Aims Maturity‐Onset Diabetes of the Young (MODY) results from a single‐gene defect. This study aimed to determine the minimal prevalence, screening indicators, as well as clinical characteristics of MODY in the Czech Republic based on data from 25 years of the nationwide registry.
Petra Dusatkova, Marketa Pavlikova, Michaela Cermakova, Klara Vesela, Katerina Kolarova, Lenka Elblova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova   +8 more
wiley   +1 more source

Navigating the Genetic Risk of Chemotherapy‐Induced Hearing Loss in the Stria Vascularis

Clinical Pharmacology &Therapeutics, Volume 119, Issue 4, Page 846-858, April 2026.
Cisplatin is a chemotherapy drug that causes permanent hearing loss by damaging a critical tissue lining the inner ear, called the stria vascularis (SV). Currently, the molecular mechanisms of SV damage are largely unknown and the incidence of ototoxicity in patients cannot be reliably predicted.
Tara Lazetic, Deanne Nixie R. Miao, Britt I. Drögemöller, Alain Dabdoub, Julia M. Abitbol   +4 more
wiley   +1 more source

Wfs1-deficient mice display altered function of serotonergic system and increased behavioural response to antidepressants

Frontiers in Neuroscience, 2013
It has been shown that mutations in the WFS1 gene make humans more susceptible to mood disorders. Besides that, mood disorders are associated with alterations in the activity of serotonergic and noradrenergic systems.
Tanel eVisnapuu, Tanel eVisnapuu, Sirli eRaud, Sirli eRaud, Maarja eLoomets, Maarja eLoomets, Riin eReimets, Riin eReimets, Silva eSütt, Silva eSütt, Hendrik eLuuk, Hendrik eLuuk, Mario ePlaas, Mario ePlaas, Sulev eKõks, Sulev eKõks, Vallo eVolke, Vallo eVolke, Aet eAlttoa, Jaanus eHarro, Eero eVasar, Eero eVasar   +21 more
doaj   +1 more source