The NYS1 gene of Saccharomyces cerevisiae yeasts is linked to the centromere marker of chromosome IV - gene TRP1 and is located at 16.2 cM distance from it.
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mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China.
Mol Vis
February 2024
Department of Ophthalmology, Lixiang Eye Hospital of Soochow University, Suzhou, Jiangsu, China.
Article Synopsis
- * Researchers analyzed 98 families from Southeast China, discovering 11 mutations in the gene responsible for OA1, including seven new mutations, which were linked to various phenotypes of the condition.
- * The findings enhance the understanding of the genetic landscape of INS in this population and highlight the need for genetic screening to improve clinical diagnosis and treatment for patients with atypical symptoms.
Micro chromosomal deletions at the NYS7 locus and autosomal dominant nystagmus.
Exp Eye Res
May 2023
Department of Ophthalmology, Shamir Medical Center (formerly Assaf-Harofeh), Tzrifin, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Matlow's Ophthalmo-Genetics Laboratory, Department of Ophthalmology, Shamir Medical Center (formerly Assaf-Harofeh), Tzrifin, Israel.
Article Synopsis
- - Nystagmus is an eye condition causing involuntary eye movement that can impair vision, and when it occurs without other diseases, it's called congenital motor nystagmus (CMN).
- - A study on a family with autosomal dominant CMN revealed a novel deletion on chromosome 1q32 and confirmed the inheritance pattern through various molecular analyses.
- - The deletion affects gene regulation, particularly of NR5A2 and MIR181A, which are linked to retinal function and may contribute to the development of CMN, as indicated by reduced expression of these genes in affected individuals.
Nystagmus describes an involuntary, periodic movement of one or both eyes. About 1/600 children and adolescents have nystagmus, most of them idiopathic infantile nystagmus (IIN), also called "congenital nystagmus", which can be caused by mutations in the gene. Other frequent forms of nystagmus are latent nystagmus, which is usually associated with infantile strabismus, and nystagmus associated with albinism.
View Article and Find Full Text PDFNoncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus.
Transl Vis Sci Technol
June 2022
Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
Purpose: We aim to report noncoding pathogenic variants in patients with FRMD7-related infantile nystagmus (FIN).
Methods: Genome sequencing (n = 2 families) and reanalysis of targeted panel next generation sequencing (n = 2 families) was performed in genetically unsolved cases of suspected FIN. Previous sequence analysis showed no pathogenic coding variants in genes associated with infantile nystagmus.
Correlations of FRMD7 gene mutations with ocular oscillations.
Sci Rep
June 2022
Department of Ophthalmology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, 362000, China.
Mutations in the FERM domain containing 7 (FRMD7) gene have been proven to be responsible for infantile nystagmus (IN). The purpose of this study is to investigate FRMD7 gene mutations in patients with IN, and to evaluate the nystagmus intensity among patients with and without FRMD7 mutations. The affected males were subdivided into three groups according to whether or not having FRMD7 mutations and the types of mutations.
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