Back to search

Article

<i>Tulp3</i> quantitative alleles titrate requirements for viability, brain development, and kidney homeostasis but do not suppress <i>Zfp423</i> mutations in mice

2025-04-29

Abstract excerpt

<h4>ABSTRACT</h4> Tubby-like protein 3 (TULP3) regulates receptor trafficking in primary cilia and antagonizes SHH signaling. Tulp3 knockout mice are embryonic lethal with developmental abnormalities in multiple organs, while tissue-specific knockouts and viable missense alleles cause polycystic kidney disease. Human patients with TULP3 mutations present with variable, but often multi-organ fibrotic disease. We...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
e095c348-c5e5-5351-afcd-d77e952a71e0
DOI
10.1101/2025.04.25.650726
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
<i>Tulp3</i> quantitative alleles titrate requirements for viability, brain development, and kidney homeostasis but do not suppress <i>Zfp423</i> mutations in miceDOI 10.1101/2025.04.25.650726
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.Semantic proximity
Tulp3 deficiency results in ciliopathy phenotypes during zebrafish embryogenesis.Semantic proximity
<i>Zfp423</i> regulates Sonic hedgehog signaling via primary cilium functionSemantic proximity
Generation and Standardized, Systemic Phenotypic Analysis of Pou3f3L423P Mutant Mice.Semantic proximity
<i>ZNF423</i> patient variants, truncations, and in-frame deletions in mice define an allele-dependent range of midline brain abnormalitiesSemantic proximity
Haploinsufficiency of the mouse <i>Tshz3</i> gene leads to kidney dysfunctionSemantic proximity
Strain-dependent modifier genes determine survival in <i>Zfp423</i> miceSemantic proximity
Zfp423 Regulates Sonic Hedgehog Signaling via Primary Cilium Function.Semantic proximity
Tulp3 Regulates Renal Cystogenesis by Trafficking of Cystoproteins to CiliaSemantic proximity
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.Semantic proximity
Developmental switch dichotomizes kidney response to <i>Nphp3</i> inactivation and treatment outcomeSemantic proximity
Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis.Semantic proximity
Select a neighboring publication to make it the new centre.