Last Updated: 09/26/2026
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Found 39 publications
Carboxypeptidase D deficiency causes hearing loss amenable to treatment.
Journal: The Journal of clinical investigation
Published: February 07, 2025
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 30, 2022
Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss.
Journal: Clinical genetics
Published: August 05, 2019
Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: January 06, 2019
Interplay between HGAL and Grb2 proteins regulates B-cell receptor signaling.
Journal: Blood advances
Published: January 13, 2018
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.
Journal: Brain : a journal of neurology
Published: June 19, 2017
Phosphorylation of Tyr188 in the WW domain of YAP1 plays an essential role in YAP1-induced cellular transformation.
Journal: Cell cycle (Georgetown, Tex.)
Published: July 19, 2016
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: May 11, 2016
Characterization of ATPase Activity of P2RX2 Cation Channel.
Journal: Frontiers in physiology
Published: January 07, 2016
A multi-trimeric fusion of CD40L and gp100 tumor antigen activates dendritic cells and enhances survival in a B16-F10 melanoma DNA vaccine model.
Journal: Vaccine
Published: February 20, 2015
Structural insights into the functional versatility of WW domain-containing oxidoreductase tumor suppressor.
Journal: Experimental biology and medicine (Maywood, N.J.)
Published: February 10, 2015
Last Updated: 09/26/2026