Discovery of the role of non-B DNA structures in mutagenesis and human genomic disorders.

J Biol Chem

Center for Genome Research, Institute of Biosciences and Technology, Texas A&M System Health Science Center, The Texas Medical Center, Houston, Texas 77030-3303, USA.

Published: April 2009

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2666547PMC
http://dx.doi.org/10.1074/jbc.X800010200DOI Listing

Publication Analysis

Top Keywords

discovery role
4
role non-b
4
non-b dna
4
dna structures
4
structures mutagenesis
4
mutagenesis human
4
human genomic
4
genomic disorders
4
discovery
1
non-b
1

Similar Publications

The secrets of the Tübingen Castle kitchen: Friedrich Miescher and the discovery of nuclein, the cornerstone of DNA.

Gac Med Mex

January 2025

Departamento de Anatomía Patológica, Fundación Clínica Médica Sur; Departamento de Biología Celular y Tisular, Escuela de Medicina, Universidad Panamericana. Mexico City, Mexico.

In 1869, Friedrich Miescher, born in Basel, Switzerland, discovered a previously unknown phosphorus-rich substance in the nuclei of pus cells. Conducting his research in a laboratory set up in the kitchen of Tübingen's medieval castle in Germany, and under the guidance by Professor Felix Hoppe-Seyler, Miescher primarily focused on the composition of cell nuclei. He obtained nuclear material by washing pus cells from surgical bandages provided by a nearby hospital.

View Article and Find Full Text PDF

Protein -glycosylation, as one of the most crucial post-translational modifications, plays a significant role in various biological processes. The structural alterations of -glycans are closely associated with the onset and progression of numerous diseases. Therefore, the precise and specific identification of disease-related -glycans in complex biological samples is invaluable for understanding their involvement in physiological and pathological processes, as well as for discovering clinical diagnostic biomarkers.

View Article and Find Full Text PDF

Structural and Electronic Properties of Poly(ethylene terephthalate) (PET) from Polarizable Molecular Dynamics Simulations.

Macromolecules

January 2025

Department of Biochemistry, Virginia Tech, Blacksburg, Virginia 24061, United States.

The environmental and economic challenges posed by the widespread use and disposal of plastics, particularly poly(ethylene terephthalate) (PET), require innovative solutions to mitigate their impact. Such mitigation begins with understanding physical properties of the polymer that could enable new recycling technologies. Although molecular simulations have provided valuable insights into PET interactions with various PET hydrolases, current nonpolarizable force fields neglect the electronic polarization effects inherent to PET interactions.

View Article and Find Full Text PDF

Background: Endometriosis, a prevalent chronic gynecological condition, is frequently associated with infertility and pelvic pain. Despite numerous studies indicating a correlation between epigenetic regulation and endometriosis, its precise genetic etiology remains elusive. Methyltransferase-like 14 (METTL14), a crucial component of the N6-methyladenosine (mA) RNA methyltransferase complex and an RNA binding scaffold, is known to play a pivotal role in various human diseases.

View Article and Find Full Text PDF

Background: Hirschsprung disease (HSCR) is a rare neurodevelopmental disorder caused by disrupted migration and proliferation of enteric neural crest cells during enteric nervous system development. Genetic studies suggest a complex etiology involving both rare and common variants, but the contribution of ultra-rare pathogenic variants (PAs) remains poorly understood.

Methods: We perform whole-exome sequencing (WES) on 301 HSCR probands and 109 family trios, employing advanced statistical methods and gene prioritization strategies to identify genes carrying and ultra-rare coding pathogenic variants.

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!