Publications by authors named "Zhi-Bo Lin"
Aim: To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a missense mutation in members with atypical aniridia.
Methods: Eleven family members with and without atypical aniridia were recruited. All family members underwent comprehensive ophthalmic examinations.
Article Synopsis
- BPES is a genetic condition characterized by specific eye abnormalities, and this study looked into the genetic causes in a family with unusual symptoms like anisometropia and cataracts.
- Researchers conducted detailed eye exams and used whole-exome sequencing to identify genetic variants.
- They found a specific variant (c.672_701dup) in the FOXL2 gene responsible for the disease in affected family members, confirming their diagnosis of type II BPES.
Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome.
BMC Ophthalmol
February 2022
Background: Congenital cataract-microcornea syndrome (CCMC) is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Although several causative genes have been reported in patients with CCMC, the genetic etiology of CCMC is yet to be clearly understood.
Purpose: To unravel the genetic cause of autosomal dominant family with CCMC.
Background: Free circular RNAs(circRNAs) escaping from primary lesion of cancer to brain are strictly regulated by blood-brain barrier and therefore cerebrospinal fluid (CSF) circRNAs have potential advantage in exploring biomarkers and mechanism of brain metastasis in lung cancer.
Methods: We collected paired cerebrospinal fluid, plasma and tumor tissues from 21 lung adenocarcinoma (ADC) patients with brain metastases (BM) and performed RNA sequencing.
Results: Compared to tumor tissue and plasma, circRNAs in CSF were characterized by lower number of spieces but higher abundance.