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Sonic Hedgehog Determines Early Retinal Development and Adjusts Eyeball Architecture.
Int J Mol Sci
January 2025
Department of Developmental and Regenerative Biology, Medical Research Institute, Institute of Science Tokyo, Tokyo 113-8510, Japan.
The eye primordium of vertebrates initially forms exactly at the side of the head. Later, the eyeball architecture is tuned to see ahead with better visual acuity, but its molecular basis is unknown. The position of both eyes in the face alters in patients with holoprosencephaly due to () mutations that disturb the development of the ventral midline of the neural tube.
View Article and Find Full Text PDFIdentification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.
Int J Mol Sci
January 2025
Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy.
Anderson-Fabry disease is a hereditary, progressive, multisystemic lysosomal storage disorder caused by a functional deficiency of the enzyme α-galactosidase A (α-GalA). This defect is due to mutations in the gene, located in the long arm of the X chromosome (Xq21-22). Functional deficiency of the α-GalA enzyme leads to reduced degradation and accumulation of its substrates, predominantly globotriaosylceramide (Gb3), which accumulate in the lysosomes of numerous cell types, giving rise to the symptomatology.
View Article and Find Full Text PDFThe Identification of a Novel Pathogenic Variant of the Gene Associated with a Classic Phenotype of Anderson-Fabry Disease: A Clinical and Molecular Study.
Int J Mol Sci
January 2025
Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy.
Anderson-Fabry (or Fabry) disease is a rare lysosomal storage disorder caused by a functional deficiency of the enzyme alpha-galactosidase A. The partial or total defect of this lysosomal enzyme, which is caused by variants in the gene, leads to the accumulation of glycosphingolipids, mainly globotriaosylceramide in the lysosomes of different cell types. The clinical presentation of Fabry disease is multisystemic and can vary depending on the specific genetic variants associated with the disease.
View Article and Find Full Text PDFMutations Causing X-Linked Recessive Oligodontia with Variable Expression.
Genes (Basel)
December 2024
Department of Pediatric Dentistry & DRI, School of Dentistry, Seoul National University, Seoul 03080, Republic of Korea.
Background/objectives: The ectodysplasin A () gene, a member of the tumor necrosis factor ligand superfamily, is involved in the early epithelial-mesenchymal interaction that regulates ectoderm-derived appendage formation. Numerous studies have shown that mutations in the gene can cause X-linked ectodermal dysplasia (ED) and non-syndromic oligodontia (NSO). Accordingly, this study aimed to identify the causative genetic mutations of the gene.
View Article and Find Full Text PDFGenotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.
Sci Rep
January 2025
Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, 936 Huanghe East Road, Jinfeng District, Yinchuan, 750004, China.
In this study, patients with inherited retinal dystrophies (IRDs) who visited Ningxia Eye Hospital from January 2015 to September 2023 were analyzed. Through Whole Exome Sequencing (WES) and Sanger verification, 17 probands carrying homozygous variants were detected. The association between the genotype and clinical phenotype of patients with homozygous variants was analyzed.
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