Associated Papers
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
Membrane frizzled-related protein: a comprehensive analysis of genetic characteristics, phenotypic manifestations and impact on retinal microvasculature.
Simsek M et al.
Ophthalmic Genetics, 2025
Cystoid Macular Lesions in Inherited Retinal Diseases: Prevalence, Characteristics, and Genetic Associations in a Hungarian Cohort.
Asboth B et al.
Genes, 2025
MFRP, PRSS56, and MYRF account for 60.5% of a Chinese cohort with nanophthalmos.
Tao J et al.
Clinical & Experimental Ophthalmology, 2025
MFRP in Early Onset Retinal Degeneration: Clinical and Molecular Perspectives.
Woodard DR et al.
Advances in Experimental Medicine and Biology, 2025
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Generation of the induced pluripotent stem cell line IOCVi001-A from a patient with the MFRP-related retinitis pigmentosa-nanophthalmos syndrome.
Mora-Roldan GA et al.
Stem Cell Research, 2024
MFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity.
Li Z et al.
Frontiers in Genetics, 2024
Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients.
Ota J et al.
Ophthalmic Genetics, 2023
The Role of Microglia in Inherited Retinal Diseases.
Kumari A et al.
Advances in Experimental Medicine and Biology, 2023
Single cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration.
Kumari A et al.
Scientific Reports, 2022
Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes.
Gogna N et al.
International Journal of Molecular Sciences, 2022
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Collin GB et al.
Cells, 2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
Almoallem B et al.
Scientific Reports, 2020
Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy.
Chekuri A et al.
Human Gene Therapy, 2019
Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.
Wasmann RA et al.
Acta Ophthalmologica, 2014
Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.
Ritter M et al.
The British Journal of Ophthalmology, 2013
Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos.
Matsushita I et al.
Japanese Journal of Ophthalmology, 2012
A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.
Mukhopadhyay R et al.
Molecular Vision, 2010
Evaluation of MFRP as a candidate gene for high hyperopia.
Wang P et al.
Molecular Vision, 2009
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.
Faiyaz-Ul-Haque M et al.
Clinical Genetics, 2007
A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.
Ayala-Ramirez R et al.
Molecular Vision, 2006