A novel nonsense RPS26 mutation in a patient with Diamond–Blackfan anemia: a case report

Autor: Şule Çalışkan Kamış, Metin Çil, Begül Yağcı, Özlem Anlaş

Publikováno v: Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-4 (2024)

Abstract Background Diamond–Blackfan anemia is a rare congenital disorder characterized by erythroid hypoplasia and is associated with mutations in ribosomal protein genes. This case report describes a novel variant in the RPS26 gene, which, to our

Externí odkaz: https://doaj.org/article/f29c19af0f124e27be4acb1c250f180d

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

Autor: Calame, Daniel G. ^{1, 2, 3, ∗}, Wong, Jovi Huixin ⁴, Panda, Puravi ⁴, Nguyen, Dat Tuan ⁴, Leong, Nancy C.P. ⁴, Sangermano, Riccardo ⁵, Patankar, Sohil G. ⁵, Abdel-Hamid, Mohamed S. ⁶, AlAbdi, Lama ⁷, Safwat, Sylvia ^{8, 9}, Flannery, Kyle P. ⁹, Dardas, Zain ³, Fatih, Jawid M. ³, Murali, Chaya ³, Kannan, Varun ¹, Lotze, Timothy E. ¹, Herman, Isabella ^{1, 2, 3, 10}, Ammouri, Farah ^{10, 11}, Rezich, Brianna ¹², Efthymiou, Stephanie ¹³, Alavi, Shahryar ¹³, Murphy, David ¹⁴, Firoozfar, Zahra ¹⁵, Nasab, Mahya Ebrahimi ^{16, 17}, Bahreini, Amir ^{18, 19}, Ghasemi, Majid ²⁰, Haridy, Nourelhoda A. ²¹, Goldouzi, Hamid Reza ²², Eghbal, Fatemeh ²³, Karimiani, Ehsan Ghayoor ²⁴, Begtrup, Amber ²⁵, Elloumi, Houda ²⁵, Srinivasan, Varunvenkat M. ²⁶, Gowda, Vykuntaraju K. ²⁶, Du, Haowei ³, Jhangiani, Shalini N. ²⁷, Coban-Akdemir, Zeynep ^{3, 28}, Marafi, Dana ^{3, 29}, Rodan, Lance ^{30, 31}, Isikay, Sedat ³², Rosenfeld, Jill A. ^{3, 33}, Ramanathan, Subhadra ³⁴, Staton, Michael ³⁴, Oberg, Kerby C. ³⁵, Clark, Robin D. ³⁴, Wenman, Catharina ³⁶, Loughlin, Sam ³⁶, Saad, Ramy ³⁷, Ashraf, Tazeen ³⁷, Male, Alison ³⁷, Tadros, Shereen ^{37, 38}, Boostani, Reza ³⁹, Abdel-Salam, Ghada M.H. ⁴⁰, Zaki, Maha ⁴⁰, Mardi, Ali ⁴¹, Hashemi-Gorji, Farzad ⁴², Abdalla, Ebtesam ⁸, Manzini, M. Chiara ⁹, Pehlivan, Davut ^{1, 2, 3}, Posey, Jennifer E. ³, Gibbs, Richard A. ^{3, 27}, Houlden, Henry ¹³, Alkuraya, Fowzan S. ^{43, 44}, Bujakowska, Kinga ⁵, Maroofian, Reza ¹³, Lupski, James R. ^{2, 3, 27, 45, ∗∗}, Nguyen, Long N. ^{4, 46, 47, 48, 49, ∗∗∗}

Publikováno v: In Genetics in Medicine January 2025 27(1)

Preclinical development of lentiviral vector gene therapy for Diamond-Blackfan anemia syndrome

Autor: Bhoopalan, Senthil Velan ^{1, 2, ∗}, Mayuranathan, Thiyagaraj ^{1, 7}, Liu, Nana ¹, Mayberry, Kalin ¹, Yao, Yu ¹, Zhang, Jingjing ¹, Métais, Jean-Yves ², Yan, Koon-Kiu ³, Throm, Robert E. ⁴, Ellis, Steven R. ⁵, Ju, Yan ¹, Han, Lei ¹, Suryaprakash, Shruthi ¹, Palmer, Lance E. ¹, Zhou, Sheng ⁶, Yu, Jiyang ³, Cheng, Yong ¹, Yen, Jonathan S. ¹, Gottschalk, Stephen ², Weiss, Mitchell J. ^{1, ∗∗}

Publikováno v: In Molecular Therapy December 2024

Pure Red Cell Aplasia Encountered in a Tertiary Care Hematology Laboratory: A Series of Nine Distinctive Cases

Autor: Mansi Kala, Kunal Das, Avriti Baveja, Manish Raturi, Meghali Dhebane, Sohaib Ahmad, Mansi Mehrotra

Publikováno v: Journal of Laboratory Physicians, Vol 15, Iss 02, Pp 316-320 (2023)

Pure red cell aplasia (PRCA) is characterized by severe anemia with reticulocytopenia and bone marrow erythroblastopenia. The early erythroblasts are markedly decreased; however, in rare instances, they may be normal or raised in number. There are va

Externí odkaz: https://doaj.org/article/119885fb7acd424e8ef41da0b9388a35

Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico

Autor: Paula Leal-Anaya, Tamara N. Kimball, Ana Lucia Yanez-Felix, Moisés Ó. Fiesco-Roa, Benilde García-de Teresa, Angélica Monsiváis, Rocío Juárez-Velázquez, Esther Lieberman, Camilo Villarroel, Emiy Yokoyama, Liliana Fernández-Hernández, Anet Rivera-Osorio, David Sosa, Maria Magdalena Ortiz Sandoval, Norma López-Santiago, Sara Frías, Victoria del Castillo, Alfredo Rodríguez

Publikováno v: Frontiers in Genetics, Vol 14 (2024)

Introduction: The inherited bone marrow failure syndromes (IBMFSs) are a group of rare disorders characterized by bone marrow failure (BMF), physical abnormalities, and an increased risk of neoplasia. The National Institute of Pediatrics (INP) is a m

Externí odkaz: https://doaj.org/article/c847b296c71c481ba9d3a93f5e694b3a