Bone Marrow Failure Syndrome (BMFS) Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant
CONCLUSIONS: In this report, we present a patient with congenital bone marrow failure successfully treated with haploidentic BMT and describe a novel, de novo pathogenic variant in MECOM gene.PMID:36082647 | DOI:10.24953/turkjped.2021.4855 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - September 9, 2022 Category: Pediatrics Authors: Burak Delilo ğlu Özlem Tüfekçi Funda T üzün Ay ça Aykut Emine İpek Ceylan Asude Durmaz Şebnem Yılmaz Nuray Duman Hasan Özkan Hale Ören Source Type: research

Use of gonadotropin-releasing hormone (GnRH) agonist trigger in fertility preservation for patients with inherited genetic disorders
In patients with varying hematologic disorders (thalassemia, sickle cell anemia, aplastic anemia, etc.), inherited bone marrow failure syndromes, and immune deficiencies due to a single gene disorder, the advent of stem cell transplantation (SCT) as a treatment option has allowed for significant disease improvement, and possibly cure. This specific treatment option often requires exposure to chemotherapeutic agents and sometimes whole body radiation; therefore, primary ovarian insufficiency is often sequelae of the therapy. The optimization of fertility preservation protocols within this patient population is of extreme im...
Source: Frontiers in Endocrinology - September 6, 2022 Category: Endocrinology Source Type: research

Splice-site variant in the RPS7 5' UTR leads to a decrease in the mRNA level and development of Diamond-Blackfan anemia
In conclusion, the established consequences of 5' UTR splice-site variant c.-19+1G>T in the RPS7 gene provide evidence that it is likely pathogenic.PMID:36057918 | DOI:10.1111/cge.14221 (Source: Clinical Genetics)
Source: Clinical Genetics - September 4, 2022 Category: Genetics & Stem Cells Authors: Liubov O Skorodumova Ksenia A Davydenko Alexandra Y Filatova Mikhail Yu Skoblov Nikolay A Kulemin Maryam B Khadzhieva Elena S Zakharova Veronika D Gordeeva Nataliya S Smetanina Irina V Fedyushkina Lyudmila A Anastasevich Sergey S Larin Source Type: research

Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability
Inherited bone marrow failure syndromes (IBMFS) are a complex and heterogeneous group of genetic diseases. To date, at least 13 IBMFS have been characterized. Their pathophysiology is associated with germline pathogenic variants in genes that affect hematopoiesis. A couple of these diseases also have genomic instability, Fanconi anemia due to DNA damage repair deficiency and dyskeratosis congenita/telomere biology disorders as a result of an alteration in telomere maintenance. Patients can have extramedullary manifestations, including cancer and functional or structural physical abnormalities. Furthermore, the phenotypic s...
Source: Frontiers in Oncology - August 25, 2022 Category: Cancer & Oncology Source Type: research