ArticleAmerican journal of human genetics1999
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 63 citations in OpenAlex.
- Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.Cancers · 2026Review
- Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia.International journal of molecular sciences · 2025Article
- Article
- GATA binding protein 2 mediated ankyrin repeat domain containing 26 high expression in myeloid-derived cell lines.World journal of stem cells · 2024Article
- Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26.Blood · 2023Article
- Prevalence and natural history of variants in thePlatelets · 2022Review
- A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review.Frontiers in genetics · 2020Article
- [Mutation of ANKRD26 is responsible for thrombocytopenia 2 (THC2) : a family report in China].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2018Article
- ASXL1 mutated chronic myelomonocytic leukemia in a patient with familial thrombocytopenia secondary to germline mutation in ANKRD26.Blood cancer journal · 2015Article
- An update of the goat genome assembly using dense radiation hybrid maps allows detailed analysis of evolutionary rearrangements in Bovidae.BMC genomics · 2014Article
- Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.The Journal of clinical investigation · 2014Article
- Genetics of familial forms of thrombocytopenia.Human genetics · 2012Review
- Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.American journal of human genetics · 2011Article
- In vivo inactivation of MASTL kinase results in thrombocytopenia.Experimental hematology · 2009Article
- The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1.American journal of human genetics · 2000Article
- Inherited Thrombocytopenia Caused by GermlineJournal of investigative medicine high impact case reportsArticle
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The increasing number of diagnosed cases of inherited thrombocytopenias, owing to the routine practice of including platelet counts in blood tests, suggests that this condition is not so rare as expected. In the majority of cases, the molecular basis of the disease is unknown, although the defect is likely to affect thrombocytopoiesis and regulation of the normal platelet count. Here we report a genomewide search in a large Italian family affected by autosomal dominant thrombocytopenia. Patients showed a moderate thrombocytopenia with minimal symptoms characterized by normocellular bone marrow, normal medium platelet volume, and positive aggregation tests. Microsatellite analysis demonstrated that the disease locus (THC2) is linked to chromosome 10p11.1-12, within a candidate region of 6 cM between markers D10S586 and D19S1639. A maximum LOD score of 8.12 at recombination fraction.00 was obtained with the microsatellite D10S588. These data localized the first locus of an autosomal dominant thrombocytopenia, and the subsequent identification of the gene will provide new insight into the basic mechanism of megakaryocytopoiesis disorders.
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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.