mProX™ Human GPR143 Stable Cell Line

M J Gilhooley et al. "27 Chiasmal misrouting in infantile nystagmus syndrome (INS): phenotypes in patients with molecular diagnoses." BMJ open ophthalmology, 2023
The study aimed to determine clinical-electrophysiological parameters that may correlate with specific genotypes in infantile nystagmus syndrome (INS). A retrospective chart review of 71 patients at Moorfields Eye Hospital with a molecular diagnosis related to INS was conducted. The patients' visual acuity, presence of nystagmus and signs of albinism, and OCT foveal hypoplasia grade were recorded, along with flash and pattern visual evoked potential (VEP). VEP asymmetry was evaluated using the Pearson Correlation Coefficient. Pathological variants in 8 genes were identified. The study showed a correlation between VEP results and clinical signs of albinism, providing useful information for genetic testing and counseling procedures.
M J Gilhooley et al. "27 Chiasmal misrouting in infantile nystagmus syndrome (INS): phenotypes in patients with molecular diagnoses." BMJ open ophthalmology, 2023
Pubmed: 37797986   DOI: 10.1136/bmjophth-2023-BIPOSA.27

Feiyin Zi et al. "Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families." BMC medical genomics, 25 Sep. 2023
In this study, a team of researchers aimed to report novel pathogenic variants of X-linked genes in five Chinese families with early-onset high myopia (eoHM). Whole-exome sequencing was used to identify causative variants in five male probands diagnosed with high myopia at their first visits between 4 and 7 years old. The identified variants were confirmed through Sanger sequencing and co-segregation analysis in available family members. The pathogenicity of the variants was evaluated using in silico analysis and according to ACMG guidelines. Further analysis revealed that pedigrees 1, 2, 3, and 4 were diagnosed with X-linked recessive hereditary eye disease, while pedigree 5 showed traits of eoHM in the right eye and ptosis in both eyes. Additionally, RT-qPCR was used to detect differences in mRNA expression of the candidate gene in the proband and their family members, providing further evidence for the pathogenicity of the identified variants. This study expands the genotypic spectra for eoHM and provides valuable information for ophthalmologists in assessing, diagnosing, and conducting genetic screening for this condition.
Feiyin Zi et al. "Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families." BMC medical genomics, 25 Sep. 2023
Pubmed: 37749571   DOI: 10.1186/s12920-023-01665-x