Search filters

List of works by Toby Hurd

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

scientific article published on 8 July 2013

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

scientific article

Characterization of a novel RP2-OSTF1 interaction and its implication for actin remodeling

scientific article published on 12 January 2018

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

scientific article

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

scientific article

Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype

scientific journal article

Mutations in EMP2 cause childhood-onset nephrotic syndrome

scientific article

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

scientific article published on 19 September 2013

Osteoclast stimulation factor 1 (Ostf1) KNOCKOUT increases trabecular bone mass in mice

scientific article published on 21 September 2017

Photoreceptor actin dysregulation in syndromic and non-syndromic retinitis pigmentosa

scientific article published on 21 November 2018

The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification

scientific article published on 01 April 2020

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

scientific article

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

scientific article published on October 2013

Paulina is supported by:

About Paulina

Help