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MFRP encodes a member of the frizzled-related proteins. Zusätzlich bieten wir Ihnen MFRP Proteine (6) und MFRP Kits (3) und viele weitere Produktgruppen zu diesem Protein an.
Showing 10 out of 22 products:
Cow (Bovine) Polyclonal MFRP Primary Antibody für WB - ABIN2773781
Sundin, Dharmaraj, Bhutto, Hasegawa, McLeod, Merges, Silval, Maumenee, Lutty: Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization. in Ophthalmic genetics 2008
We report the MFRP-related ocular phenotype in three siblings with glycogen (zeige GYS1 Antikörper) storage disease type 1b. Molecular genetic studies identified novel mutations in the MFRP and SLC37A4 (zeige SLC37A4 Antikörper) genes.
The current study expands our knowledge of the mutation spectrum of MFRP and its associated phenotypes. To our knowledge, this is the first report of MFRP mutations in a Chinese cohort.
Among five single nucleotide polymorphism(SNP)s tested, only MFRP rs3814762 and heat shock protein (HSP)70 (zeige HSP70 Antikörper) rs1043618 show nominal association with primary angle closure.
nanophthalmos and high hyperopia but without electrophysiological evidence of retinal dystrophy (zeige MERTK Antikörper) has also been associated with MFRP mutations.
Corneal diameter decreases with decreasing axial length, suggesting posterior microphthalmos and nanophthalmos represent a spectrum of high hyperopia rather than distinct phenotypes. In the Saudi population PRSS56 (zeige PRSS56 Antikörper) mutations are the major cause.
Homozygous autosomal recessive retinitis pigmentosa-causing mutations have been found in three Indian families. These included a single base deletion in MFRP.
MFRP gene shows tendency to be associated with primary angle closure glaucoma in both the Australian and Nepalese cohorts.
Posterior microphthalmos can be caused by nonsense compound heterozygous mutations in the MFRP gene.
In both previous reports of PMPRS, mutations in membrane type frizzled-related protein (MFRP) gene (located at 11q23) was demonstrated to be present
Three novel MFRP mutations that expand the phenotypic data available on patients with MFRP mutations, are reported.
Transcripts of Prss56 (zeige PRSS56 Antikörper), a gene associated with angle-closure glaucoma, posterior microphthalmia and myopia, were increased in Mfrprd6 eyes by 17-fold.
the severity of the Mfrp(rd6) retinal degenerative phenotype in mice depends on the strain genetic background and that a significant modifier locus on CAST/EiJ Chromosome 1 protects against Mfrp(rd6)-associated photoreceptor loss.
The authors have identified a novel null mutation in mouse Mfrp. This mutation causes photoreceptor degeneration and eventual RPE (zeige RPE Antikörper) atrophy, which may be related to alterations in the number of RPE (zeige RPE Antikörper) microvilli.
involvement of the Mfrp gene expressed by retinal pigment epithelium in the degeneration of photoreceptors
This gene encodes a member of the frizzled-related proteins. The encoded protein may play a role in eye development, as mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic mRNA, which also encodes C1q and tumor necrosis factor related protein 5.
membrane frizzled-related protein
, membrane frizzled-related protein-like
, membrane-type frizzled-related protein