Results 31 to 40 of about 5,423 (216)

Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders

Frontiers in Genetics, 2023
Objective: Wolfram syndrome (WFS) is an autosomal recessive disorder associated with juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss.
Evan M. Lee, Megha Verma, N. Palaniappan, E. Pope, S. Lee, L. Blacher, P. Neerumalla, Williams An, T. Campbell, Cris M. Brown, S. Hurst, Bess A. Marshall, T. Hershey, Virginia Nunes, Miguel López de Heredia, Fumihiko Urano   +15 more
semanticscholar   +9 more sources

The WFS1‐ZnT3‐Zn2+ Axis Regulates the Vicious Cycle of Obesity and Depression

Advanced Science
Obesity, a growing global health concern, is closely linked to depression. However, the neural mechanism of association between obesity and depression remains poorly understood. In this study, neural‐specific WFS1 deficiency exacerbates the vicious cycle
Mengting Gong, Yulin Fang, Kaijiang Yang, Fei Yuan, Rui Hu, Yajuan Su, Yiling Yang, Wenjun Xu, Qing Ma, Jiaxue Cha, Ru Zhang, Zhen‐Ning Zhang, Weida Li   +12 more
doaj   +2 more sources

Emotsionaalse käitumise iseloomustamine Wfs1-puudulikel rottidel [PDF]

, 2017
Wolframi sündroom on autosomaalne retsessiivne neurodegeneratiivne haigus, mida iseloomustab magediabeet, tüüp I suhkrudiabeet, optiline atroofia, kurtus ning mitmesugused psühhiaatrilised häired. Sündroomi põhjustavad mutatsioonid wolframiini valku kodeerivas WFS1 geenis, mille tõttu väheneb või peatub antud valgu süntees.
Rohtla, Laura-Liisa
openaire   +2 more sources

Common variants in WFS1 confer risk of type 2 diabetes [PDF]

Nature Genetics, 2007
We studied genes involved in pancreatic beta cell function and survival, identifying associations between SNPs in WFS1 and diabetes risk in UK populations that we replicated in an Ashkenazi population and in additional UK studies. In a pooled analysis comprising 9,533 cases and 11,389 controls, SNPs in WFS1 were strongly associated with diabetes risk ...
Sandhu, Manjinder S., Weedon, Michael N., Fawcett, Katherine A., Wasson, Jon, Debenham, Sally L., Daly, Allan, Lango, Hana, Frayling, Timothy M., Neumann, Rosalind J., Sherva, Richard, Blech, Ilana, Pharoah, Paul D., Palmer, Colin N.A., Kimber, Charlotte, Tavendale, Roger, Morris, Andrew D., McCarthy, Mark I., Walker, Mark, Hitman, Graham, Glaser, Benjamin, Permutt, M. Alan, Hattersley, Andrew T., Wareham, Nicholas J., Barroso, Inês   +23 more
openaire   +5 more sources

Circadian rhythms and food anticipatory behavior in Wfs1-deficient mice

Biochemical and Biophysical Research Communications, 2012
The dorsomedial hypothalamic nucleus (DMH) has been proposed as a candidate for the neural substrate of a food-entrainable oscillator. The existence of a food-entrainable oscillator in the mammalian nervous system was inferred previously from restricted feeding-induced behavioral rhythmicity in rodents with suprachiasmatic nucleus lesions.
Luuk, Hendrik, Fahrenkrug, Jan, Hannibal, Jens   +2 more
openaire   +4 more sources

IGF1 signaaliraja uurimine Wfs1-puudulikkusega hiirtel [PDF]

, 2017
Wolframi sündroom on haruldane autosomaalne retsessiivne haigus, mille põhjuseks on mutatsioonid WFS1 geenis. Haiguse peamisteks sümptomiteks on varajane suhkurtõbi, nägemisnärvi atroofia, kurtus ning erinevad psühhiaatrilised häired. WFS1 geen kodeerib WFS1 valku, mida leidub nii inimesel kui hiirel kõige rohkem ajus, südames, kopsudes ja pankrease ...
Kull, Erkki
openaire   +2 more sources

Wfs1 -puuduliku roti suhkurdiabeedi fenotüübi kirjeldamine [PDF]

, 2017
Wolframi sündroom (WS) on autosomaalne retsessiivne neurodegeneratiivne haigus, mida põhjustavad mutatsioonid WFS1 geenis. Sündroomi põhisümptomid on magediabeet, suhkurdiabeet, nägemisnärvi atroofia ja sensorineuraalne kurtus. Et uurida WS-i ja võimalikke WS-i vastaseid raviteraapiaid, on praegu disainitud eri laborites kolm Wfs1 -puudulikku ...
Koppel, Tuuliki
openaire   +2 more sources

Hippocampus and Hypothalamus RNA-sequencing of WFS1-deficient Mice

Neuroscience, 2018
Wolfram syndrome is caused by mutations in the WFS1 gene. WFS1 protein dysfunction results in a range of neuroendocrine syndromes and is mostly characterized by juvenile-onset diabetes mellitus and optic atrophy. WFS1 has been shown to participate in membrane trafficking, protein processing and Ca2+ homeostasis in the endoplasmic reticulum.
Ivask, M., Pajusalu, S., Reimann, E., Kõks, S.   +3 more
openaire   +3 more sources

A novel heterozygous WFS1 variant of uncertain significance in a patient with early-onset diabetes: a case report [PDF]

Frontiers in Endocrinology
ObjectiveTo describe the clinical presentation of a patient with early-onset diabetes and to report a novel heterozygous WFS1 variant of uncertain significance (VUS) identified in this case.
Wen Kan, Yunyang Wang, Yu Xue, Xiaoying Zhang, Lili Xu   +4 more
doaj   +2 more sources

RNASeq highlights ATF6 pathway regulators for CHO cell engineering with different impacts of ATF6β and WFS1 knockdown on fed-batch production of IgG1

Scientific Reports
Secretion levels required of industrial Chinese hamster ovary (CHO) cell lines can challenge endoplasmic reticulum (ER) homeostasis, and ER stress caused by accumulation of misfolded proteins can be a bottleneck in biomanufacturing.
Dyllan Rives, Caroline Peak, Mark A. Blenner   +2 more
doaj   +2 more sources