ArticleBMC genomics2006
The systematic functional characterisation of Xq28 genes prioritises candidate disease genes.
Article in BMC genomics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 29 citations in OpenAlex.
- Primate-specific melanoma antigen-A11 regulates isoform-specific human progesterone receptor-B transactivation.The Journal of biological chemistry · 2012Trial
- Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.Molecular psychiatry · 2006Trial
- Prenatal diagnosis of distal Xq28 duplication syndrome: case reports and literature review.Molecular cytogenetics · 2026Article
- Case Report: Identification of a novel hemizygous missenseFrontiers in pediatrics · 2025Article
- Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.Human genomics · 2024Review
- A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner.The Journal of clinical endocrinology and metabolism · 2022Article
- A brief history of MECP2 duplication syndrome: 20-years of clinical understanding.Orphanet journal of rare diseases · 2022Review
- Genetic studies of human-chimpanzee divergence using stem cell fusions.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- TheGenes · 2021Review
- Extreme enrichment of VNTR-associated polymorphicity in human subtelomeres: genes with most VNTRs are predominantly expressed in the brain.Translational psychiatry · 2020Article
- Drug Studies on Rett Syndrome: From Bench to Bedside.Journal of autism and developmental disorders · 2020Review
- Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.Human mutation · 2020Article
- GABAFrontiers in systems neuroscience · 2019Article
- Yeast X-chromosome-associated protein 5 (Xap5) functions with H2A.Z to suppress aberrant transcripts.EMBO reports · 2014Article
- A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.American journal of human genetics · 2012Article
- Androgen receptor molecular biology and potential targets in prostate cancer.Therapeutic advances in urology · 2010Article
- An investigation of ribosomal protein L10 gene in autism spectrum disorders.BMC medical genetics · 2009Article
- A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes.Neurogenetics · 2008Article
- The full-ORF clone resource of the German cDNA Consortium.BMC genomics · 2007Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWell known for its gene density and the large number of mapped diseases, the human sub-chromosomal region Xq28 has long been a focus of genome research. Over 40 of approximately 300 X-linked diseases map to this region, and systematic mapping, transcript identification, and mutation analysis has led to the identification of causative genes for 26 of these diseases, leaving another 17 diseases mapped to Xq28, where the causative gene is still unknown. To expedite disease gene identification, we have initiated the functional characterisation of all known Xq28 genes.
resultsBy using a systematic approach, we describe the Xq28 genes by RNA in situ hybridisation and Northern blotting of the mouse orthologs, as well as subcellular localisation and data mining of the human genes. We have developed a relational web-accessible database with comprehensive query options integrating all experimental data. Using this database, we matched gene expression patterns with affected tissues for 16 of the 17 remaining Xq28 linked diseases, where the causative gene is unknown.
conclusionBy using this systematic approach, we have prioritised genes in linkage regions of Xq28-mapped diseases to an amenable number for mutational screens. Our database can be queried by any researcher performing highly specified searches including diseases not listed in OMIM or diseases that might be linked to Xq28 in the future.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.