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Filename: controllers/Detail.php
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Function: _error_handler
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Filename: models/Detail_model.php
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Filename: controllers/Detail.php
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Filename: controllers/Detail.php
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Glaucoma is the cause of irreversible blindness worldwide. Mutations in six genes have been associated with juvenile- and adult-onset familial primary open angle glaucoma (POAG) prior to this report but they explain only a small proportion of the genetic load. The aim of the study is to identify the novel genetic cause of the POAG in the families with adult-onset glaucoma. Whole exome sequencing (WES) was performed on DNA of two affected individuals, and predicted pathogenic variants were evaluated for segregation in four affected and three unaffected Dutch family members by Sanger sequencing. We identified a pathogenic variant (p.Val956Gly) in the PRPF8 gene, which segregates with the disease in Dutch family. Targeted Sanger sequencing of PRPF8 in a panel of 40 POAG families (18 Pakistani and 22 Dutch) revealed two additional nonsynonymous variants (p.Pro13Leu and p.Met25Thr), which segregate with the disease in two other Pakistani families. Both variants were then analyzed in a case-control cohort consisting of Pakistani 320 POAG cases and 250 matched controls. The p.Pro13Leu and p.Met25Thr variants were identified in 14 and 20 cases, respectively, while they were not detected in controls (p values 0.0004 and 0.0001, respectively). Previously, PRPF8 mutations have been associated with autosomal dominant retinitis pigmentosa (RP). The PRPF8 variants associated with POAG are located at the N-terminus, while all RP-associated mutations cluster at the C-terminus, dictating a clear genotype-phenotype correlation.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884903 | PMC |
http://dx.doi.org/10.1007/s12035-017-0673-5 | DOI Listing |
Stem Cell Res
December 2024
Aier Eye Institute, Changsha, Hunan, China; Guangzhou Aier Eye Hospital, Guangzhou, Guangdong, China. Electronic address:
Retinitis pigmentosa (RP) is a common inherited retinal disease characterized by progressive degeneration of the retina, leading to night blindness, progressive vision loss, and constriction of the visual field. Previously, we established a human induced pluripotent stem cell line (CSUASOi006-A) from a RP patient carrying heterozygous PRPF8 (c.C5792T) mutation.
View Article and Find Full Text PDFAm J Respir Cell Mol Biol
September 2024
Sun Yat-sen University First Affiliated Hospital, Department of Cardiac Surgery, Guangzhou, Guangdong, China;
Pulmonary hypertension (PH) is a life-threatening condition characterized by pulmonary vascular remodeling and endothelial dysfunction. Current therapies primarily target vasoactive imbalances but often fail to address adverse vascular remodeling. Long non-coding RNA (lncRNA), which are key regulators of various cellular processes, remain underexplored in the context of PH.
View Article and Find Full Text PDFArch Biochem Biophys
November 2024
Department of General Surgery, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical University, Haikou, 570311, Hainan Province, PR China. Electronic address:
Background: Trastuzumab resistance is a serious clinical problem in the treatment of HER2-positive breast cancer (BC). The lncRNA ZNF649-AS1 was previously found to promote HER2-positive BC trastuzumab resistance. The study aims to explore the molecular mechanism of ZNF649-AS1 in HER2-positive BC trastuzumab resistance.
View Article and Find Full Text PDFZhonghua Yi Xue Za Zhi
July 2024
Genetics Center of Obstetrics and Gynecology, Obstetrics & Gynecology Hospital of Fudan University, Shanghai 200011, China.
Horm Res Paediatr
July 2024
Folkhälsan Research Center, Helsinki, Finland.
Introduction: Childhood hypophosphatemia is a rare condition and may be caused by malabsorption, malignancies, or genetic factors. Prolonged hypophosphatemia leads to impaired growth and radiographic signs of rickets.
Methods: We performed a detailed clinical and genetic evaluation of an adolescent boy with repeatedly low plasma phosphate concentrations (below 0.
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