Results 81 to 90 of about 384 (136)

Atypical presentations of Wolframs syndrome

Indian Journal of Endocrinology and Metabolism, 2012
Background: Wolfram syndrome is a rare hereditary or sporadic neurodegenerative disorder also known as DIDMOAD. The classically described presentation is of insulin-dependent diabetes, followed by optic atrophy, central diabetes insipidus, and sensory ...
S Saran, R Philip, P P Patidar, M Gutch, P Agroiya, P Agarwal, K K Gupta   +6 more
doaj   +1 more source

Exenatide Is an Effective Antihyperglycaemic Agent in a Mouse Model of Wolfram Syndrome 1 [PDF]

, 2020
Wolfram syndrome 1 is a very rare monogenic disease resulting in a complex of disorders including diabetes mellitus. Up to now, insulin has been used to treat these patients. Some of the monogenic forms of diabetes respond preferentially to sulphonylurea
Mario Plaas, Hendrik Luuk, Tuuli Sedman, Vallo Volke, Maarja Krass, Kertu Rünkorg, Eero Vasar   +6 more
core  

A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4

, 2021
Wolfram syndrome is a rare autosomal recessive disorder characterized by optic atrophy and diabetes mellitus. Wolfram syndrome type 1 (WFS1) is caused by bi-allelic pathogenic variations in the wolframin gene. We described the first case of WFS1 due to a
Nicoletta Resta, Francesco Claudio Susca, Massimo Carella, Elvira Piccinno, Concetta Aloi, Alessandro Salina, Federica Ortolani, Orazio Palumbo, Pietro Palumbo, Maurizio Delvecchio   +9 more
core   +1 more source

Wolfram syndrome 1 (WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkey

, 2006
Wolfram syndrome (WFS1, OMIM 222300) is a rare genetic disorder associated with multiple organ abnormalities, most prominently optic nerve atrophy and diabetes. Mutations in the WFS1 gene coding for wolframin have been identified.
Hofmann, Sabine, Kreczmanski, Pawel, Yamamoto, Hideo, Schmidt-Kastner, Rainald, Hamasaki, Duco I, Schmitz, Christoph, Yamamoto, Hiroko, Parel, Jean-Marie   +7 more
core   +1 more source

Novel WFS1 variants are associated with different diabetes phenotypes

Frontiers in Genetics
BackgroundThe WFS1 gene encodes the protein wolframin, which is crucial for maintaining endoplasmic reticulum homeostasis. Variants in this gene are predominantly associated with Wolfram syndrome and have been implicated in other disorders such as ...
Lei Wu, Juan Zhang, Danjie Li, Zhongyun Zhang, Qicheng Ni, Qicheng Ni, Rulai Han, Rulai Han, Lei Ye, Lei Ye, Yifei Zhang, Yifei Zhang, Jie Hong, Jie Hong, Weiqing Wang, Weiqing Wang, Guang Ning, Guang Ning, Weiqiong Gu, Weiqiong Gu   +19 more
doaj   +1 more source

No association between wolframin gene H611R polymorphism and mood disorders: Evidence from 2570 subjects

, 2015
Background: In the past few decades, a number of studies have investigated the association of the wolframin (WFS1) gene H611R polymorphism with mood disorders, but the findings are not always consistent.
Juan Wang (115708), Yan-Feng Zou (835100), Xiao-Wu Tang (835099)   +2 more
core   +1 more source

Co-segregation of WFS1 p.Gly494Ser variant with recurrent vasovagal syncope in a multigenerational family: a candidate susceptibility variant needing independent validation

Frontiers in Pediatrics
IntroductionVasovagal syncope (VVS) is the most prevalent subtype of reflex syncope. However, the genetic etiology underlying familial recurrent VVS has not been fully elucidated.MethodsWe recruited a multigenerational Chinese pedigree with three ...
Xinxin Guo, Jie Chen, Xiaoli Wang, Xi Zheng, Fang Yang   +4 more
doaj   +1 more source

mTOR Inhibition limits LPS induced acute kidney injury and ameliorates hallmarks of cellular senescence

Scientific Reports
Sepsis-induced acute kidney injury (AKI) can lead to chronic renal dysfunction with accelerated renal aging. Activation of the mammalian target of rapamycin (mTOR) is implicated in the initiation and progression of renal injury.
Alessandra Stasi, Rossana Franzin, Fabio Sallustio, Alessandro Scagliotti, Paola Cappello, Elena Squiccimarro, Gianvito Caggiano, Rosa Losapio, Monica Campioni, Antonino Castellaneta, Vincenzo Cantaluppi, Claudia Curci, Paola Pontrelli, Giovanni Stallone, Loreto Gesualdo, Vito Fanelli, Giuseppe Castellano   +16 more
doaj   +1 more source

WFS1 gene delivery rescues visual function in a mouse model of Wolfram syndrome

Acta Neuropathologica Communications
Wolfram syndrome is a rare childhood neurodegenerative disease characterized by diabetes followed by severe and rapid optic atrophy leading to blindness before the age of 20.
Jolanta Jagodzinska, Marie Péquignot, Emmanuelle Sarzi, Mélanie Quiles, Chantal Cazevieille, Agnès Müller, Sulev Koks, Cécile Delettre   +7 more
doaj   +1 more source

Entorhinal Cortex Wolframin-1-expressing neurons propagate tau to CA1 neurons and impair hippocampal memory

Tau pathology emerges early in Alzheimer\u2019s disease within entorhinal cortex layer II (ECII) and reaches hippocampal CA1, but how this circuit-level spread translates into sex-dependent vulnerability remains unclear.
Touch, Nina, Ikezu, Seiko, Luebke, Jennifer I., Hays, Emma C., Delpech, Jean-Christophe, Rau, Andrea, Medalla, Maria, Madore, Charlotte, Ravula, Arun Reddy, Lad, Heena V., Pathak, Dhruba, Kalavai, Srinidhi Venkatesan, Ikezu, Tsuneya   +12 more
core   +1 more source