Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1415215 | PMC |
| http://dx.doi.org/10.1101/gr.3955206 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.
BMC Pregnancy Childbirth
January 2025
Department of Clinical Genetics, Rennes University Hospital, Rennes, France.
Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.
View Article and Find Full Text PDFStructural Variation Interpretation in the Genome Sequencing Era: Lessons from Cytogenetics.
Clin Chem
January 2025
Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, United States.
Background: Structural variation (SV), defined as balanced and unbalanced chromosomal rearrangements >1 kb, is a major contributor to germline and neoplastic disease. Large variants have historically been evaluated by chromosome analysis and now are commonly recognized by chromosomal microarray analysis (CMA). The increasing application of genome sequencing (GS) in the clinic and the relatively high incidence of chromosomal abnormalities in sick newborns and children highlights the need for accurate SV interpretation and reporting.
View Article and Find Full Text PDFStandardization of Genomic Nomenclature across a Diverse Ecosystem of Stakeholders: Evolution and Challenges.
Clin Chem
January 2025
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Background: Genetic testing has traditionally been divided into molecular genetics and cytogenetics, originally driven by the use of different assays and their associated limitations. Cytogenetic technologies such as karyotyping, fluorescent in situ hybridization or chromosomal microarrays are used to detect large "megabase level" copy number variants and other structural variants such as inversions or translocations. In contrast, molecular methodologies are heavily biased toward subgenic "small variants" such as single nucleotide variants, insertions/deletions, and targeted detection of intragenic, exon level deletions or duplications.
View Article and Find Full Text PDFSomatic mtDNA mutation burden shapes metabolic plasticity in leukemogenesis.
Sci Adv
January 2025
Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Article Synopsis
- The study investigates how somatic mitochondrial DNA mutations influence the development of leukemia, specifically through experiments with hematopoietic progenitor cells (HPCs) from genetically modified mice.
- Researchers found that recipients of heterozygous mtDNA mutator HPCs had a higher spontaneous leukemia incidence, while homozygous mtDNA mutator HPCs had a lower incidence when combined with NMyc overexpression.
- Both types of HPCs exhibited mitochondrial function impairments, but only heterozygous HPCs adapted to the metabolic demands of NMyc overexpression, as demonstrated by altered glucose utilization linked to metabolic changes in homozygous HPCs.
Anifrolumab in Monogenic Lupus caused by TREX1 Mutation.
J Clin Immunol
December 2024
Division of Rheumatology, and the Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, Institute for Research and Health Care (IRCCS), Ospedale Pediatrico Bambino Gesù, Rome, Italy.
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!