Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity. Patients excrete large amounts of homogentisic acid in their urine and a black ochronotic pigment is deposited in their cartilage and collagenous tissues. Ochronosis is the predominant clinical complication of the disease leading to ochronotic arthropathy, dark urine, pigment changes of the skin, and other clinical features. A mutation causing alkaptonuria in the mouse has mapped to chromosome 16. Considering conserved synteny, we were able to map the human gene to chromosome 3q in six alkaptonuria pedigrees of Slovak origin.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1006/geno.1994.1003 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
FOXP2-immunoreactive corticothalamic neurons in neocortical layers 6a and 6b are tightly regulated by neuromodulatory systems.
iScience
January 2025
Institute of Neuroscience and Medicine 10, Research Centre Jülich, 52425 Jülich, Germany.
The / gene, linked to fine motor control in vertebrates, is a potential candidate gene thought to play a prominent role in human language production. It is expressed specifically in a subset of corticothalamic (CT) pyramidal cells (PCs) in layer 6 (L6) of the neocortex. These L6 FOXP2+ PCs project exclusively to the thalamus, with L6a PCs targeting first-order or both first- and higher-order thalamic nuclei, whereas L6b PCs connect only to higher-order nuclei.
View Article and Find Full Text PDFAbundant repressor binding sites in human enhancers are associated with the fine-tuning of gene regulation.
iScience
January 2025
Computational Biology Branch, National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
The regulation of gene expression relies on the coordinated action of transcription factors (TFs) at enhancers, including both activator and repressor TFs. We employed deep learning (DL) to dissect HepG2 enhancers into positive (PAR), negative (NAR), and neutral activity regions. Sharpr-MPRA and STARR-seq highlight the dichotomy impact of NARs and PARs on modulating and catalyzing the activity of enhancers, respectively.
View Article and Find Full Text PDFDevelopment and validation of a glycolysis-associated gene signature for predicting the prognosis, immune landscape, and drug sensitivity in bladder cancer.
Front Immunol
January 2025
Department of Urology, The Second Hospital of Tianjin Medical University, Tianjin, China.
Background: Bladder cancer (BCa) is one of the most common malignancies worldwide, and its prognostication and treatment remains challenging. The fast growth of various cancer cells requires reprogramming of its energy metabolism using aerobic glycolysis as a major energy source. However, the prognostic and therapeutic value of glycolysis-related genes in BCa remains to be determined.
View Article and Find Full Text PDFMolecular Epidemiology of Type F Among Diarrheal Patients and Virulence-Resistance Dynamics - 11 Provinces, China, 2024.
China CDC Wkly
January 2025
Department of Clinical Laboratory, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou City, Zhejiang Province, China.
Introduction: Type F () represents a significant pathogen in human gastrointestinal diseases, primarily through its gene encoding enterotoxin (CPE). This investigation examined the prevalence, antimicrobial resistance patterns, and genetic characteristics of Type F within the Chinese population.
Methods: The study analyzed 2,068 stool samples collected from 11 provincial hospitals in 2024.
Butterfly classification and species discovery using genomics.
Taxon Rep Int Lepid Surv
October 2023
Department of Biophysics, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390-9050, USA.
Genomic sequencing of worldwide butterfly fauna followed by phylogenetic analysis of protein-coding genes informs butterfly classification throughout the taxonomic hierarchy, from families to species. As a rule, we attribute the same taxonomic rank to more prominent clades of comparable divergence (i.e.
View Article and Find Full Text PDFWant 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!