Article

A novel homozygous missense mutation p.P388S in <i>TULP1</i> causes protein instability and retinitis pigmentosa

2020-12-07

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Retinitis pigmentosa (RP) is an inherited retinal disorder that results in the degeneration of photoreceptor cells, ultimately leading to severe visual impairment. We characterized a consanguineous family from Southern India wherein an individual in his 20’s presented with night blindness since childhood. The purpose of this study was to identify the causative mutation for RP in...

Topics

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

Identifiers and source

Literature Corpus work: ba1662ef-c158-5602-9e5d-8d1db877cf85
DOI: 10.1101/2020.12.04.20238931

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A novel homozygous missense mutation p.P388S in <i>TULP1</i> causes protein instability and retinitis pigmentosaDOI 10.1101/2020.12.04.20238931Read

Novel Homozygous <i>TULP1</i> and <i>RPE65</i> Variants Underlies Recessive Retinitis PigmentosaSemantic proximity Read

TULP1 missense mutations cause variable retinal phenotypes and activation of the endoplasmic reticulum unfolded protein response pathway.Semantic proximity Read

Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.Semantic proximity Read

Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.Semantic proximity Read

Retinal degeneration caused by mutations in TULP1.Semantic proximity Read

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Semantic proximity Read

A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family.Semantic proximity Read

A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.Semantic proximity Read

TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases.Semantic proximity Read

A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.Semantic proximity Read

Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.Semantic proximity Read

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individualsSemantic proximity Read