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Histone Variants at the Centromere02:30

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Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
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In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
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Drugs can be classified according to their chemical composition or their intended therapeutic application. For instance, anti-infective agents that possess the ability to eliminate pathogens or suppress their growth and reproduction can be grouped based on the organisms they target or their chemical structure. Furthermore, drugs can be divided into prescription, nonprescription, or controlled substances. Prescription medications, such as antibiotics, require oversight from a licensed healthcare...
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Updated: Jan 29, 2026

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A New Class of Pathogenic Non-Coding Variants in GLA.

Yujing Yuan1, Xinyu Zhang1, Chen Ling1

  • 1Department of Neurology, Peking University First Hospital, Beijing 100034, China.

International Journal of Molecular Sciences
|January 28, 2026
PubMed
Summary

Long-read sequencing (LRS) identified novel non-coding variants in two Fabry disease (FD) patients, revealing new genetic causes for the condition. This advanced technique aids in diagnosing complex cases missed by conventional genetic testing.

Area of Science:

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  • Molecular Biology
  • Medical Diagnostics

Background:

Keywords:
GLAfabry diseaselong-read sequencingnon-coding variantssanger sequencing

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  • Fabry disease (FD) presents diverse clinical symptoms, making diagnosis challenging, especially for non-classic forms.
  • Genetic testing for the alpha-galactosidase A (GLA) gene is crucial for FD diagnosis and genetic counseling.
  • Conventional methods like Sanger sequencing and short-read next-generation sequencing (NGS) can miss deep intronic, complex, or large variants.