Results 131 to 140 of about 5,313 (208)

WFS1 mutations found in this study.

, 2018
WFS1 mutations found in this study.
Ikuyo Miyanohara (4952176), Taro Fujikawa (4952182), Yuki Nagano (2692117), Maiko Miyagawa (311859), Yoshihiro Noguchi (730399), Shin-ya Nishio (181068), Kenji Ohyama (4031246), Masahiro Takahashi (71299), Chiharu Kihara (4952179), Masafumi Kobayashi (2713501), Hirofumi Sakaguchi (4952167), Yukihiko Kanda (4952173), Yasushi Naito (533644), Chie Oshikawa (415162), Shin-ya Morita (245989), Haruo Takahashi (3896227), Akiko Sugaya (4952170), Hideaki Moteki (3120018), Tetsuya Tono (533640), Kotaro Ishikawa (415159), Shin-ichi Usami (181067)   +20 more
core   +1 more source

High-fat diet associated sensitization to metabolic stress in Wfs1 heterozygous mice

, 2021
Wolfram syndrome is a rare autosomal recessive disorder caused by mutations in the wolframin ER transmembrane glycoprotein (WFS1) gene and characterized by diabetes mellitus, diabetes insipidus, optic atrophy and deafness.
Ivask, M., Volke, V., Raasmaja, A., Kõks, S.   +3 more
core  

Tõstetud pluss-puuri mõju endoplasmaatilise retiikulumi stressiga seotud geenide ekspressioonile Wfs1-puudulikkusega hiirtel [PDF]

, 2016
Wolframi sündroom on autosomaalne retsessiivne neurodegeneratiivne haigus, mis on põhjustatud mutatsioonidest WFS1 geenis ning mille sümptomite hulka kuuluvad lisaks varasele diabeedile ja optilisele atroofiale ka erinevad neuroloogilised häired ...
Jänes, Silvia
core  

A comprehensive description of the circulating tumor cell: WFS1.

The circulating tumor cell (CTC) is most likely responsible for effective metastasis (1-3). We measured total transcription in circulating tumor cells isolated from the blood of women with stage IV breast cancer to define at the molecular level the most significant changes that accompany dissemination in a migrating tumor cell population (4) and ...
openaire   +2 more sources

Co-segregation of <i>WFS1</i> p.Gly494Ser variant with recurrent vasovagal syncope in a multigenerational family: a candidate susceptibility variant needing independent validation. [PDF]

Front Pediatr
Guo X, Chen J, Wang X, Zheng X, Yang F.
europepmc   +1 more source

Reflexions on a newly discovered diabetogenic gene, wolframin (WFS1) [PDF]

Diabetologia, 1999
openaire   +2 more sources

Synaptic alterations are preceding the axonal loss in optic atrophy of Wolfram syndrome mouse model. [PDF]

Front Neurosci
Gurram V, An W, Bimal S, Urano F.
europepmc   +1 more source

Wolfram syndrome and diabetes mellitus in Aotearoa, New Zealand: Phenotype and response to GLP-1 receptor agonist therapy. [PDF]

Diabet Med
L'Amie A, Vincent AL, Jefferies CA, Braatvedt G, Wiltshire E, Mouat F, Albert BB, Murphy R.   +7 more
europepmc   +1 more source

Spinal anesthesia for urgent cesarean section in a parturient with RYR1 mutation-associated malignant hyperthermia susceptibility: a case report. [PDF]

Matern Health Neonatol Perinatol
Abaalkhayl M.
europepmc   +1 more source

Expanding the phenotype of Wolfram syndrome: adult presentation with a novel <i>WFS1</i> variant. [PDF]

JCEM Case Rep
Mehrotra P, Vengadakrishnan, Dubey N.
europepmc   +1 more source