Abundant novel transcriptional units and unconventional gene pairs on human chromosome 22 [PDF]
Novel transcriptional units (TUs) are EST-supported transcribed features not corresponding to known genes. Unconventional gene pairs (UGPs) are pairs of genes and/or TUs sharing exon-to-exon cis-antisense overlaps or putative bidirectional promoters. Computational TU and UGP discovery followed by manual curation was performed in the entire published 34.
Leonard, Lipovich, Mary-Claire, King
openaire +2 more sources
A chromosome is the structure that organizes DNA and protein in cells. It is a single piece of coiled DNA containing coding and non-coding sequences. Human cells have 23 pairs of chromosomes including 22 pairs of autosomes and one pair of sex chromosome,
Chun-Hung Chou , Muh-Hwa Yang
doaj +1 more source
Localization, analysis and evolution of transposed human immunoglobulin VK genes [PDF]
The localization of Vκ gene regions to chromosome 2, on which the κ locus is located, and to other chromosomes is described. The Vκ genes that have been transposed to other chromosomes are called orphons.
Bauer +27 more
core +1 more source
Hematological abnormalities and 22q11.2 deletion syndrome
The 22q11.2 deletion syndrome (22q11DS) is a common genetic disease characterized by broad phenotypic variability. Despite the small number of studies describing hematological alterations in individuals with 22q11DS, it appears that these abnormalities ...
Rafael Fabiano Machado Rosa +4 more
doaj +1 more source
The origin of human chromosome 2 analyzed by comparative chromosome mapping with a DNA microlibrary [PDF]
Fluorescencein situ hybridization (FISH) of microlibraries established from distinct chromosome subregions can test the evolutionary conservation of chromosome bands as well as chromosomal rearrangements that occurred during primate evolution and will ...
A Baldini +32 more
core +1 more source
Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis [PDF]
Oesophageal adenocarcinoma (EAC) incidence is rapidly increasing in Western countries. A better understanding of EAC underpins efforts to improve early detection and treatment outcomes.
Anderson, M +43 more
core +4 more sources
The Genetics of Odontogenesis: Implications in Dental Anthropology and Palæo-Odontology
Palaeoanthropology and forensic odontology rely significantly upon detailed dental morphology that is ultimately the phenotypic expression of the underlying genotype and developmental phenomena.
Geoffrey H. Sperber
doaj +1 more source
Multicolour interphase cytogenetics: 24 chromosome probes, 6 colours, 4 layers [PDF]
From the late 1980s onwards, the use of DNA probes to visualise sequences on individual chromosomes (fluorescent in-situ hybridisation - FISH) revolutionised the study of cytogenetics.
A.R. Thornhill +61 more
core +1 more source
Joint Haplotype Assembly and Genotype Calling via Sequential Monte Carlo Algorithm [PDF]
Genetic variations predispose individuals to hereditary diseases, play important role in the development of complex diseases, and impact drug metabolism. The full information about the DNA variations in the genome of an individual is given by haplotypes,
Ahn, Soyeon, Vikalo, Haris
core +3 more sources
Characterization of a ring chromossome 22 by molecular cytogenetics [PDF]
Objectives: To characterize a ring chromosome 22 by means ofmolecular cytogenetics in a girl with retarded neuropsychomotordevelopment and dysmorphic features.
Cleide Largman Borovik +9 more
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