The effect of peptide bioregulator Epithalon on the course of hereditary pigmentary retinal degeneration was studied in Campbell rats. Administration of epithalon starting from birth protected morphological structure, increased its bioelectrical activity, and improved its function.

Download full-text PDF

Source
http://dx.doi.org/10.1023/a:1015125031829DOI Listing

Publication Analysis

Top Keywords

hereditary pigmentary
8
epithalon age-specific
4
age-specific changes
4
changes retina
4
retina rats
4
rats hereditary
4
pigmentary dystrophy
4
dystrophy peptide
4
peptide bioregulator
4
bioregulator epithalon
4

Similar Publications

This Special Issue of , titled "Genetic and Molecular Basis of Inherited Disorders", presents a collection of pioneering research articles that advance our understanding of the genetic mechanisms underlying various hereditary diseases. The studies employ cutting-edge genomic techniques, including next-generation sequencing and genome-wide association studies, to elucidate novel genetic variants and their functional implications. Key investigations span a diverse range of conditions, from congenital idiopathic nystagmus and hereditary hearing loss to familial hypercholesterolemia and rare cancer predisposition syndromes.

View Article and Find Full Text PDF

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Handb Clin Neurol

September 2024

Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom; National Hospital for Neurology & Neurosurgery, Queen Square, London, United Kingdom. Electronic address:

Article Synopsis
  • Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a genetic disorder affecting brain white matter, combining features of two previous conditions: pigmentary orthochromatic leukodystrophy (POLD) and hereditary diffuse leukoencephalopathy with spheroids (HDLS).
  • Recent genetic research has identified three distinct types of ALSP: CSF1R-related ALSP, AARS2-related leukoencephalopathy, and AARS (also known as HDLS-S), each with unique characteristics.
  • The chapter provides a comprehensive overview of clinical markers, imaging findings, and potential treatment options for these conditions, highlighting both their shared features and differences.
View Article and Find Full Text PDF
Article Synopsis
  • * It can resemble other skin disorders but is distinguishable by its unique histopathological features.
  • * Diagnosis may require a biopsy, as seen in a case where a 50-year-old female was confirmed to have DDD despite no family history or abnormal lab tests, highlighting the need for awareness of rare skin conditions in medical evaluations.
View Article and Find Full Text PDF
Article Synopsis
  • * A literature review was conducted to develop a user-friendly diagnostic algorithm to help clinicians identify these disorders and determine appropriate genetic testing.
  • * The research included a comprehensive search of databases, resulting in 625 relevant articles that discuss the different diseases and contributed to forming a clear approach for provisional diagnosis based on specific clinical factors.
View Article and Find Full Text PDF
Article Synopsis
  • Freckles are a common skin condition that has a hereditary link, with previous research identifying many genetic risk factors through studies on other diseases.
  • A new study conducted a Genome-Wide Association Study (GWAS) and meta-analysis on 4,813 Chinese individuals, revealing new genetic variants linked to freckles.
  • The research identified 59 new single nucleotide polymorphisms (SNPs) and 13 novel genes that may increase susceptibility to freckles, contributing significantly to the understanding of their genetic basis.
View Article and Find Full Text PDF

Want 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!