Pages that link to "Q33845550"

The following pages link to Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1. (Q33845550):

Displaying 27 items.

• The protein O-glucosyltransferase Rumi modifies eyes shut to promote rhabdomere separation in Drosophila (Q27311710) (← links)
• Molecular diagnosis of putative Stargardt disease by capture next generation sequencing (Q28538229) (← links)
• Prominin-1 Is a Novel Regulator of Autophagy in the Human Retinal Pigment Epithelium (Q33597425) (← links)
• Identification and validation of PROM1 and CRTC2 mutations in lung cancer patients (Q33775592) (← links)
• Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa (Q33778414) (← links)
• Distinct and conserved prominin-1/CD133-positive retinal cell populations identified across species (Q33847008) (← links)
• Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy (Q34514940) (← links)
• Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies. (Q35091744) (← links)
• Prominin-1 Localizes to the Open Rims of Outer Segment Lamellae inXenopus laevisRod and Cone Photoreceptors (Q35797262) (← links)
• An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy (Q36366237) (← links)
• Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa (Q36901097) (← links)
• A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration (Q37297575) (← links)
• Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies (Q38970287) (← links)
• Commentary: "prom1 function in development, intestinal inflammation, and intestinal tumorigenesis". (Q39833209) (← links)
• Identifying mutations in Tunisian families with retinal dystrophy (Q42364951) (← links)
• Identification of three prominin homologs and characterization of their messenger RNA expression in Xenopus laevis tissues. (Q42747326) (← links)
• Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. (Q42790183) (← links)
• Genetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy (Q49265040) (← links)
• Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy. (Q55110051) (← links)
• CD133 as a regulator of cancer metastasis through the cancer stem cells (Q58614144) (← links)
• Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy. (Q64897845) (← links)
• Functional Genomics of the Retina to Elucidate its Construction and Deconstruction (Q90567439) (← links)
• Prominin-1 Modulates Rho/ROCK-Mediated Membrane Morphology and Calcium-Dependent Intracellular Chloride Flux (Q91105774) (← links)
• Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis (Q91971636) (← links)
• Prominin-1 and Photoreceptor Cadherin Localization in Xenopus laevis: Protein-Protein Relationships and Function (Q92301973) (← links)
• PROM1 and PROM2 expression differentially modulates clinical prognosis of cancer: a multiomics analysis (Q92525857) (← links)
• Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration (Q92748229) (← links)