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Ghosal Syndrome--Ten Years Follow-up.
Mondal R, Sil A, Nag SS, Sabui T. Mondal R, et al. Indian J Pediatr. 2015 Jun;82(6):568-9. doi: 10.1007/s12098-014-1654-6. Epub 2015 Jan 20. Indian J Pediatr. 2015. PMID: 25598443 No abstract available.
Nonsteroidal anti-inflammatory drugs as a targeted therapy for bone marrow failure in Ghosal hematodiaphyseal dysplasia.
Brown TJ, Barrett N, Meng H, Ricciotti E, McDonnell C, Dancis A, Qualtieri J, FitzGerald GA, Cotter M, Babushok DV. Brown TJ, et al. Blood. 2023 Mar 30;141(13):1553-1559. doi: 10.1182/blood.2022018667. Blood. 2023. PMID: 36574346 Free PMC article.
Loss-of-function mutations in TBXAS result in an increase in PGH2 availability for other PG synthases. The current treatment for Ghosal hematodiaphyseal dysplasia syndrome consists of corticosteroids. ...Our data show that NSAIDs at standard doses surprisingl …
Loss-of-function mutations in TBXAS result in an increase in PGH2 availability for other PG synthases. The current treatment for Ghosal …
Ghosal Hematodiaphyseal Dysplasia: A Case Report.
Shakiba M, Shamsian S, Malekzadeh H, Yasaei M. Shakiba M, et al. Int J Hematol Oncol Stem Cell Res. 2020 Apr 1;14(2):127-129. Int J Hematol Oncol Stem Cell Res. 2020. PMID: 32461797 Free PMC article.
Ghosal hematodiaphyseal dysplasia (GHDD) is a rare autosomal recessive disorder presenting with steroid-responsive anemia and diaphyseal dysplasia of long bones. ...
Ghosal hematodiaphyseal dysplasia (GHDD) is a rare autosomal recessive disorder presenting with steroid-responsive anem …
Ghosal Type Hematodiaphyseal Dysplasia.
Jeevan A, Doyard M, Kabra M, Daire VC, Gupta N. Jeevan A, et al. Indian Pediatr. 2016 Apr;53(4):347-8. doi: 10.1007/s13312-016-0851-y. Indian Pediatr. 2016. PMID: 27156553 Free article.
Ghosal hematodiaphyseal dysplasia-a concise review including an illustrative patient.
Arora R, Aggarwal S, Deme S. Arora R, et al. Skeletal Radiol. 2015 Mar;44(3):447-50. doi: 10.1007/s00256-014-1989-0. Epub 2014 Aug 30. Skeletal Radiol. 2015. PMID: 25172219 Review.
Ghosal hematodiaphyseal dysplasia is a rare autosomal recessive disorder characterized by metadiaphyseal dysplasia of long bones and defective hematopoiesis due to fibrosis or sclerosis of bone marrow. ...
Ghosal hematodiaphyseal dysplasia is a rare autosomal recessive disorder characterized by metadiaphyseal dysplasia of l …
Blocking COX unlocks response in GHDD.
Sukumar S, Sasa G. Sukumar S, et al. Blood. 2023 Mar 30;141(13):1497-1498. doi: 10.1182/blood.2022019351. Blood. 2023. PMID: 36995703 Free article. No abstract available.
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
Geneviève D, Proulle V, Isidor B, Bellais S, Serre V, Djouadi F, Picard C, Vignon-Savoye C, Bader-Meunier B, Blanche S, de Vernejoul MC, Legeai-Mallet L, Fischer AM, Le Merrer M, Dreyfus M, Gaussem P, Munnich A, Cormier-Daire V. Geneviève D, et al. Nat Genet. 2008 Mar;40(3):284-6. doi: 10.1038/ng.2007.66. Epub 2008 Feb 10. Nat Genet. 2008. PMID: 18264100
Studying consanguineous families with Ghosal hematodiaphyseal dysplasia syndrome (GHDD), a disorder of increased bone density, we identified mutations in TBXAS1, which encodes thromboxane synthase (TXAS). ...
Studying consanguineous families with Ghosal hematodiaphyseal dysplasia syndrome (GHDD), a disorder of increased bone d …
Ghosal hematodiaphyseal dysplasia with autoimmune anemia in two adult siblings.
Ciftciler R, Buyukasık Y, Saglam EA, Haznedaroglu IC. Ciftciler R, et al. Transfus Apher Sci. 2019 Aug;58(4):449-452. doi: 10.1016/j.transci.2019.04.027. Epub 2019 Jul 22. Transfus Apher Sci. 2019. PMID: 31395426
Ghosal hematodiaphyseal dysplasia (GHDD) is an autosomal recessive inherited disorder associated with biallelic mutations in the TBXAS1 gene located on the chromosome 7q33-34, which encodes thromboxane-A-synthase. ...
Ghosal hematodiaphyseal dysplasia (GHDD) is an autosomal recessive inherited disorder associated with biallelic mutatio …
Ghosal hematodiaphyseal dysplasia with myelofibrosis.
Datta K, Karmakar M, Hira M, Halder S, Pramanik K, Banerjee G. Datta K, et al. Indian J Pediatr. 2013 Dec;80(12):1050-2. doi: 10.1007/s12098-012-0872-z. Epub 2012 Sep 15. Indian J Pediatr. 2013. PMID: 22983925
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