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Article

Retinal degeneration caused by mutations in TULP1.

Advances in experimental medicine and biology - 1 Jan 2003

Xi Quansheng, Pauer Gayle J T, West Karen A, Crabb John W, Hagstrom Stephanie A

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15180277
DOI: 10.1007/978-1-4615-0067-4_37

Genes

TULP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

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Retinal degeneration caused by mutations in TULP1.PMID 15180277Read ↗

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

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

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

TULP1 mutation in two extended Dominican kindreds with autosomal recessive Retinitis pigmentosaSemantic proximity Read ↗

Tulp1 deficiency causes early-onset retinal degeneration through affecting ciliogenesis and activating ferroptosis in zebrafishSemantic proximity Read ↗

Molecular aspects of retinal degenerative diseases.Semantic proximity Read ↗

A novel homozygous missense mutation p.P388S in <i>TULP1</i> causes protein instability and retinitis pigmentosaSemantic proximity Read ↗

Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.Semantic proximity Read ↗

Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies.Semantic proximity Read ↗

Molecular mechanisms of photoreceptor degeneration in RP caused by IMPDH1 mutations.Semantic proximity Read ↗

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

Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerationsSemantic proximity Read ↗

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