Ask about this productRelated genes to: MFRP Blocking Peptide
- Gene:
- MFRP NIH gene
- Name:
- membrane frizzled-related protein
- Previous symbol:
- -
- Synonyms:
- FLJ30570, rd6, NNO2, C1QTNF5
- Chromosome:
- 11q23.3
- Locus Type:
- gene with protein product
- Date approved:
- 2002-02-25
- Date modifiied:
- 2017-03-01
Related products to: MFRP Blocking Peptide
Related articles to: MFRP Blocking Peptide
- Alloantigen H is one of thirteen systems in the chicken. Little is known about this system which has two serological alleles. The objectives of this study were (1) to identify the genetic region encoding the chicken alloantigen H, and (2) to develop DNA detection-based methods to aid H system allele identification. - Source: PubMed
Publication date: 2026/03/31
Fulton Janet EMcCarron Amy MWolc AnnaSparling Brandi AAli LowdanJaeger CourtneyTaylor Robert L - Congenital eye malformations like microphthalmia-anophthalmia-coloboma (MAC), anterior segment dysgenesis (ASD), primary congenital glaucoma (PCG) and congenital cataracts (CC) are significant causes of childhood visual impairment. Phenotypic heterogeneity often complicates diagnosis. The goal of this study was to optimize the diagnostic strategy for next-generation sequencing (NGS)-based procedures, thereby aiming to identify genetic causes of congenital eye malformations. Forty patients with congenital eye malformations were included. A primary diagnostic testing (PD) of a limited number of genes was followed by multigene panel (MGP) testing, including 186 eye-related genes, and exome sequencing. Causative variants were identified in 17 patients (43%) and clinically relevant variants of uncertain significance (VUS) in 6 patients (15%). PD had a diagnostic yield (DY) of 15%, MGP of 29% and exome sequencing of 4%, leading to a cumulative DY of 43%. Diagnostic rates were highest in CC (75%), bilateral cases (46%), complex ocular phenotypes (78%), patients with extraocular manifestations (55%) and positive family history (70%). Rare and possible new genotype-phenotype correlations and candidate genes (, ) could be identified. In total, eight (likely) pathogenic variants in six genes (, , , , , ) were not yet reported. A stepwise genetic testing approach starting with a broad multigene panel followed by exome sequencing provides higher diagnostic yield than limited phenotype-specific testing. Comprehensive genetic diagnosis is essential for prognosis, treatment and genetic counseling, underscoring the need for routine genetic testing and interdisciplinary collaboration in managing congenital eye malformations. - Source: PubMed
Publication date: 2025/10/10
Neuhann LukasLaner AndreasHolinski-Feder ElkeNeuhann Teresa - To assess the ocular characteristics, retinal microvasculature, and long-term outcomes of patients with nanophthalmos associated with mutations in the membrane frizzled-related protein (MFRP) gene, and to compare these findings with those observed in nanophthalmos cases without MFRP gene mutations. - Source: PubMed
Publication date: 2025/10/02
Simsek MetehanOzbek MerveAyata SelimYarali OguzhanYarali Yusuf AlperenArtunay Ozgur - The rd6 mouse model, characterized by retinal degeneration due to an Mfrp mutation, has been widely studied. However, we identified a subset of rd6 mice that developed severe non-rhegmatogenous retinal detachment (rd6-RD), suggesting the presence of additional genetic factors. This study aimed to characterize the retinal phenotype of rd6-RD mice and identify potential causative genetic mutations. - Source: PubMed
Publication date: 2025/09/23
Shiozawa Asaka LeeKobayashi Maika HosoiShiozawa YusukeIkeda YasuhiroMiyagawa YoshitakaOkamoto FumikiSakai MashitoOkada TakashiIgarashi Tsutomu - Nanophthalmos is a rare ocular condition characterised by a significantly short axial length (AL) and high hyperopia, often associated with various complications. This study aims to provide a comprehensive analysis of the clinical and genetic features of nanophthalmos in a large Chinese cohort. - Source: PubMed
Publication date: 2025/09/19
Xu QingdanZhou YiwenWang JiajianKong XiangmeiChen JunyiDai YiQian ShaohongYu XiaoboSun XinghuaiChen Yuhong