Results 141 to 150 of about 5,313 (208)

Toward Data-Driven MODY Panels: Strong Evidence for NEUROD1 and PDX1, Limited Support for APPL1 and WFS1.

Diabetes
Satoshi Yoshiji, Daisuke Tanaka
semanticscholar   +1 more source

Hypotheses on physiopathogenic mechanisms of fecal incontinence in Wolfram syndrome. [PDF]

IBRO Neurosci Rep
Orssaud C.
europepmc   +1 more source

rs10010131A in <i>WFS1</i> is Associated with Elevated Serum Urea in Type 2 Diabetes Patients Treated with SGLT2 Inhibitors. [PDF]

Ther Clin Risk Manag
Naja K, Elashi AA, Hedaya L, Anwardeen NR, Al-Shafai M, Rizzo M, Elrayess MA.   +6 more
europepmc   +1 more source

The AudioGene Translational Dashboard for Diagnosing Autosomal Dominant Nonsyndromic Hearing Loss: Phenotypic Data Visualization and Analysis Study. [PDF]

JMIR Bioinform Biotechnol
DeSollar B, Schaefer N, Walls D, Odell AM, Booth KTA, Azaiez H, Schnieders M, Smith RJH, Braun T, Casavant T.   +9 more
europepmc   +1 more source

<i>N</i>-propargylputrescine as a minimal-tag probe for imaging putrescine dynamics in cellular homeostasis and stress. [PDF]

iScience
Owczarek A, Duchnowska A, Sas Z, Zakrzewski M, Florkowska A, Nalepa M, Skweres A, Suchożebski F, Mąka A, Szymanowski J, Michaluk P, Winiarska K, Cieśla M, Marusiak A, Serwa RA, Węgrzynowicz M.   +15 more
europepmc   +1 more source

Phase II trial of sodium phenylbutyrate and taurursodiol in Wolfram syndrome. [PDF]

J Clin Invest
Urano F, Marshall BA, Hurst S, Robichaux-Viehoever A, Ahmadi S, Hershey T, Van Stavern G, Cruz Bravo P, Powers Carson J, Pesko J, Fox K, Erpelding N, Bedrosian CL.   +12 more
europepmc   +1 more source

Identification of alternative splicing in WFS1 associated with low-frequency hearing loss in the common marmoset. [PDF]

HGG Adv
Yokota S, Yoshimura H, Nishio SY, Sasaki E, Mukasa K, Usami SI, Takumi Y.   +6 more
europepmc   +1 more source

Evaluating the use of GLP-1 receptor agonists in Wolfram syndrome patients. [PDF]

Front Endocrinol (Lausanne)
Lee LA, Tang AF, Asako AE, Ning SF, Reed HA, Duncan E, Lugar HM, Hoekel J, Marshall BA, Hershey T, Urano F.   +10 more
europepmc   +1 more source

Compound heterozygous mutations in WFS1 cause atypical Wolfram syndrome

Chinese Medical Journal, 2019
Yun-Di Pan, Jun-Ling Fu, Xin-Hua Xiao, Li-Shao Guo   +3 more
openaire   +3 more sources

Bilateral diabetic Charcot neuroarthropathy of the knee in a young woman with diabetes suspected of Wolfram-like syndrome. [PDF]

Diabetol Int
Jojima T, Iijima T, Sagara M, Suda K, Saito M, Tanuma D, Sakurai S, Tomaru T, Yamaguchi Y, Usui I, Taneichi H, Aso Y.   +11 more
europepmc   +1 more source