Juvenile Open Angle Glaucoma (GLC1A) is an autosomal optic neuropathy that has been localized previously to chromosome 1q. Here we report the fine mapping of the disease region using YACs and a high density of polymorphic microsatellite markers. This study utilized two large JOAG pedigrees genotyped at 36 loci from chromosome 1q21-q31 to refine the GLC1A locus to a approximately 3-cM region flanked by YAC-derived microsatellite markers D1S3665 and D1S3664. The candidate genes LAMC1, NPR1, and CNR2 were excluded from the region by linkage. Four other genes, SELE, SELL, TXGP1, and APT1LG1, were determined to lie within the critical region through YAC content and linkage mapping. The YAC-STS content map of the critical region provides the groundwork for the construction of a transcription map and the identification of the disease-causing gene.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1101/gr.6.9.862 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A Graph-based Framework for ABAC Policy Enforcement and Analysis.
Data Appl Secur Priv XXXII (2024)
July 2024
Rutgers University, Newark, USA.
In the realm of access control mechanisms, Attribute-Based Access Control (ABAC) stands out for its dynamic and fine-grained approach, enabling permissions to be allocated based on attributes of subjects, objects, and the environment. This paper introduces a graph model for ABAC, named . The leverages directional flow capacities to enforce access control policies, mapping the potential pathways between a subject and an object to ascertain access rights.
View Article and Find Full Text PDFUnlabelled: To overcome the paucity of known tumor-specific surface antigens in pediatric high-grade glioma (pHGG), we contrasted splicing patterns in pHGGs and normal brain samples. Among alternative splicing events affecting extracellular protein domains, the most pervasive alteration was the skipping of ≤30 nucleotide-long microexons. Several of these skipped microexons mapped to L1-IgCAM family members, such as .
View Article and Find Full Text PDFNot all who meander are lost: migrating sea lamprey follow river thalwegs to facilitate safe and efficient passage upstream.
J Exp Biol
January 2025
Michigan State University, Department of Fisheries and Wildlife, East Lansing, MI, USA.
Efficient navigation is crucial for the reproductive success of many migratory species, often driven by competing pressures to conserve energy and reduce predation risk. Little is known about how non-homing species achieve this balance. We show that sea lamprey (Petromyzon marinus), an ancient extant vertebrate, uses persistent patterns in hydro-geomorphology to quickly and efficiently navigate through complex ecosystems.
View Article and Find Full Text PDFA cross-tissue transcriptome-wide association study identifies new susceptibility genes for benign prostatic hyperplasia.
Sci Rep
January 2025
Department of Urology, The Second Hospital & Clinical Medical School, Lanzhou University, Lanzhou, 730030, People's Republic of China.
Benign prostatic hyperplasia (BPH) is a prevalent urinary system disorder. Despite evidence of a significant genetic component from previous studies, the specific pathogenic genes and biological mechanisms are still largely unknown. The study utilized the FinnGen R10 dataset, encompassing 177,901 individuals (36,601 cases and 141,300 controls), and the GTEx v8 EQTLs files to conduct single-tissue and cross-tissue transcriptome-wide association studies (TWAS).
View Article and Find Full Text PDFZero-Shot Traffic Identification with Attribute and Graph-Based Representations for Edge Computing.
Sensors (Basel)
January 2025
School of Economics and Management, Beijing Information Science & Technology University, Beijing 100192, China.
With the proliferation of mobile terminals and the rapid growth of network applications, fine-grained traffic identification has become increasingly challenging. Methods based on machine learning and deep learning have achieved remarkable results, but they heavily rely on the distribution of training data, which makes them ineffective in handling unseen samples. In this paper, we propose AG-ZSL, a zero-shot learning framework based on traffic behavior and attribute representations for general encrypted traffic classification.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!