Results 31 to 40 of about 384 (136)

Genomics of Wolfram Syndrome 1 (WFS1)

Biomolecules, 2023
Wolfram Syndrome (WFS) is a rare, autosomal, recessive neurogenetic disorder that affects many organ systems. It is characterised by diabetes insipidus, diabetes mellites, optic atrophy, and deafness and, therefore, is also known as DIDMOAD.
Sulev Kõks
doaj   +1 more source

Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin [PDF]

Neurology Genetics, 2021
To describe the WFS1 c.1672C>T; p.R558C missense variant, found in 1.34% of Ashkenazi Jews, that has a relatively mild phenotype and to use computational normal mode analysis (NMA) to explain the genotype-phenotype relationship.The clinical, laboratory, and genetic features of 8 homozygotes were collected.
Adi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg   +13 more
openaire   +2 more sources

Identification and Characterization of Wolframin, the Product of the Wolfram Syndrome Gene (WFS1), as a Novel Calmodulin-Binding Protein

, 2016
To search for calmodulin (CaM) targets, we performed affinity chromatography purification of a rat brain extract using CaM fused with GST as the affinity ligand. Proteomic analysis was then carried out to identify CaM-binding proteins.
Naoya Hatano (2166427), Tsutomu Masaki (121136), Ryoji Kobayashi (2166424), Saki Yurimoto (2166421), Tomohito Fujimoto (1576618), Mitsumasa Tsuchiya (2375983), Kiyohito Kato (2375980), Hiroshi Tokumitsu (1576615)   +7 more
core   +2 more sources

Association of aggression with a novel microRNA binding site polymorphism in the wolframin gene [PDF]

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2013
AbstractRare mutations in the WFS1 gene lead to Wolfram syndrome, a severe multisystem disorder with progressive neurodegeneration and diabetes mellitus causing life‐threatening complications and premature death. Only a few association studies using small clinical samples tested the possible effects of common WFS1 gene variants on mood disorders and ...
Kovács-Nagy Réka, Elek Zsuzsanna, Székely Anna, Nánási Tibor, Sasvári-Székely Mária, Rónai Zsolt   +5 more
openaire   +3 more sources

An investigation on wolframin function in health and disease

, 2021
Wolfram syndrome (WS) is a rare genetic disorder caused by mutations in the WFS1 gene leading to a wide spectrum of clinical dysfunctions, among which blindness, diabetes and psychiatric traits are the most prominent. WFS1 encodes for the ER-resident transmembrane protein wolframin (WFS1), whose structure and functions are only partially understood ...
openaire   +2 more sources

Developmental hypomyelination in Wolfram syndrome: new insights from neuroimaging and gene expression analyses

Orphanet Journal of Rare Diseases, 2019
Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2 genes leading to brain structural abnormalities and neurological symptoms. These abnormalities appear in early stages of the disease.
Amjad Samara, Rachel Rahn, Olga Neyman, Ki Yun Park, Ahmad Samara, Bess Marshall, Joseph Dougherty, Tamara Hershey   +7 more
doaj   +1 more source

Prohormone convertase 2 activity is increased in the hippocampus of Wfs1 knockout mice

Frontiers in Molecular Neuroscience, 2015
BackgroundMutations in WFS1 gene cause Wolfram syndrome, which is a rare autosomal recessive disorder, characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy and deafness (DIDMOAD).
Karin eTein, Sergo eKasvandik, Sulev eKõks, Eero eVasar, Anton eTerasmaa   +4 more
doaj   +1 more source

Case Report: Ophthalmologic Evaluation Over a Long Follow-Up Time in a Patient With Wolfram Syndrome Type 2: Slowly Progressive Optic Neuropathy as a Possible Clinical Finding

Frontiers in Pediatrics, 2021
Wolfram syndrome (WFS) is a rare autosomal recessive neurodegenerative disease whose diagnosis requires diabetes mellitus and optic atrophy (OA). WFS includes a wide spectrum of other possible complications such as diabetes insipidus, sensorineural ...
Valentina Di Iorio, Enza Mozzillo, Francesco Maria Rosanio, Francesca Di Candia, Rita Genesio, Francesco Testa, Claudio Iovino, Adriana Franzese, Francesca Simonelli   +8 more
doaj   +1 more source

Polymorphisms in wolframin (WFS1) gene are possibly related to increased risk for mood disorders [PDF]

The International Journal of Neuropsychopharmacology, 2005
Wolfram syndrome gene (WFS1) has been suggested to have a role in the susceptibility for mood disorders. A 26-fold increased risk for psychiatric disorders in WFS1 mutation carriers has been suggested. In this study we tested the hypothesis that the WFS1 gene is related to the risk for mood disorders.
Koido, K., Kõks, S., Nikopensius, T., Maron, E., Altmäe, S., Heinaste, E., Vabrit, K., Tammekivi, V., Hallast, P., Kurg, A., Shlik, J., Vasar, V., Metspalu, A., Vasar, E.   +13 more
openaire   +3 more sources

Sublayer‐ and pathway‐specific control of CA1 input processing by VIP interneurons

The Journal of Physiology, Volume 604, Issue 18, Page 7890-7910, 15 September 2026.
Abstract figure legend Pathway‐ and sublayer‐specific regulation of CA1 pyramidal neurons by VIP interneurons. Left, schematic representation of the principal inhibitory circuit motifs formed by vasoactive intestinal peptide‐expressing interneurons (VIP‐INs) in hippocampal CA1.
Parisa Iloun, Jordan Grenier, Felix Veillette, Lisa Topolnik   +3 more
wiley   +1 more source