ArticleAmerican journal of human genetics1997
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 100 citations in OpenAlex.
- X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis.International journal of molecular sciences · 2021Pooled it
- Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.American journal of hematology · 2016Trial
- Dyskeratosis Congenita with Pigmentary Mosaicism and Hematopoietic Trisomy 9 in a Female Associated with a de novo DKC1 Variant and Markedly Skewed X Chromosome Inactivation.NPJ genomic medicine · 2026Article
- X-linked competition - implications for human development and disease.Nature reviews. Genetics · 2025Review
- Females with X-Linked Muscle Disorders: an underestimated patient population.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2025Review
- Population variability in X-chromosome inactivation across 10 mammalian species.Nature communications · 2024Article
- Population variability in X-chromosome inactivation across 9 mammalian species.bioRxiv : the preprint server for biology · 2023Article
- Article
- The importance of pseudouridylation: human disorders related to the fifth nucleoside.Biologia futura · 2023Review
- Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad.Frontiers in pediatrics · 2022Article
- X-Chromosome Inactivation and Related Diseases.Genetics research · 2022Review
- A novel cause ofEJHaem · 2021Article
- Molecular signature for senile and complicated cataracts derived from analysis of sumoylation enzymes and their substrates in human cataract lenses.Aging cell · 2020Article
- Article
- Characterization of an X-chromosome-linked telomere biology disorder in females with DKC1 mutation.Leukemia · 2019Article
- Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis.Molecular genetics & genomic medicine · 2018Article
- The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.Human genetics · 2016Review
- Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.Human genetics · 2016Review
- X Chromosome Inactivation in Opioid Addicted Women.Basic and clinical neuroscience · 2015Article
- Analysis of C43G mutation in the promoter region of the XIST gene in patients with idiopathic primary ovarian insufficiency.Clinical and experimental reproductive medicine · 2015Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In this study, we report on a family with X-linked dyskeratosis congenita (DC). Linkage analysis with markers in the factor VIII gene at Xq28 yielded a LOD score of 2 at a recombination of 0. Clinical manifestations of DC, such as skin lesions following the Blaschko lines, were present in two obligate carrier females. Highly skewed X inactivation was observed in white blood cells, cultured skin fibroblasts, and buccal mucosa from female carriers of DC in this family. This suggests a critical role for the DC gene in bone marrow-cell and fibroblast-cell proliferation.
Indexed as
Identifiers
9042917PMC1712491W161587304What OpenQuestion holds
Registered trials
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.