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https://www.readbyqxmd.com/read/29766597/a-functional-assay-for-the-clinical-annotation-of-genetic-variants-of-uncertain-significance-in-diamond-blackfan-anemia
#1
Anna Aspesi, Marta Betti, Marika Sculco, Chiara Actis, Cristina Olgasi, Marcin W Wlodarski, Adrianna Vlachos, Jeffrey M Lipton, Ugo Ramenghi, Claudio Santoro, Antonia Follenzi, Steven R Ellis, Irma Dianzani
Diamond-Blackfan anemia (DBA) is a rare genetic hypoplasia of erythroid progenitors characterized by mild to severe anemia and associated with congenital malformations. Clinical manifestations in DBA patients are quite variable and genetic testing has become a critical factor in establishing a diagnosis of DBA. The majority of DBA cases are due to heterozygous loss-of-function mutations in ribosomal protein (RP) genes. Causative mutations are fairly straightforward to identify in the case of large deletions and frameshift and nonsense mutations found early in a protein coding sequence, but diagnosis becomes more challenging in the case of missense mutations and small in-frame indels...
May 15, 2018: Human Mutation
https://www.readbyqxmd.com/read/29745857/identification-of-novel-drug-targets-for-diamond-blackfan-anemia-based-on-rps19-gene-mutation-using-protein-protein-interaction-network
#2
Abbas Khan, Arif Ali, Muhammad Junaid, Chang Liu, Aman Chandra Kaushik, William C S Cho, Dong-Qing Wei
BACKGROUND: Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. In order to explore the molecular mechanisms of wild and mutated samples from DBA patients were exposed to bioinformatics investigation. Biological network of differentially expressed genes was constructed. This study aimed to identify novel therapeutic signatures in DBA and uncovered their mechanisms. The gene expression dataset of GSE14335 was used, which consists of 6 normal and 4 diseased cases...
April 24, 2018: BMC Systems Biology
https://www.readbyqxmd.com/read/29663858/assessment-of-liver-and-cardiac-iron-overload-using-mri-in-patients-with-chronic-anemias-in-latin-american-countries-results-from-asimila-study
#3
Rodolfo Cancado, Nora P Watman, Clarisse Lobo, Zulay Chona, Fernando Manzur, Fabiola Traina, Miriam Park, Guillermo Drelichman, Juan Pablo Zarate, Luis Marfil
OBJECTIVES: A multicenter, noninterventional, observational study was conducted in the Latin American countries including Argentina, Brazil, Colombia, Mexico, and Venezuela to assess the prevalence of liver and cardiac iron overload using magnetic resonance imaging (MRI) in patients with chronic anemias except thalassemia. METHODS: Patients aged >10 years with transfusion-dependent anemias, except thalassemia, either with <20 units of red blood cell (RBC) transfusions with serum ferritin (SF) levels >2000 ng/mL or with ≥20 units of RBC transfusions regardless of SF level in their lifetime, were enrolled...
April 17, 2018: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29599205/recurring-mutations-in-rpl15-are-linked-to-hydrops-fetalis-and-treatment-independence-in-diamond-blackfan-anemia
#4
Marcin W Wlodarski, Lydie Da Costa, Marie-Françoise O'Donohue, Marc Gastou, Narjesse Karboul, Nathalie Montel-Lehry, Ina Hainman, Dominika Danda, Amina Szvetnik, Victor Pastor, Nahuel Paolini, Franca M di Summa, Hannah Tamary, Abed Abu Quider, Anna Aspesi, Riekelt H Houtkooper, Thierry LeBlanc, Charlotte Niemeyer, Pierre-Emmanuel Gleizes, Alyson W MacInnes
Diamond-Blackfan anemia is a rare inherited bone marrow failure disorder linked predominantly to ribosomal protein gene mutations. The European DBA consortium reports here novel mutations identified in the RPL15 gene in 6 unrelated individuals diagnosed with Diamond-Blackfan anemia. Although point mutations have not been previously reported for RPL15, we identified 4 individuals with truncating mutations p.Tyr81* (in 3/4) and p.Gln29*, and 2 with missense variants p.Leu10Pro and p.Lys153Thr. Notably, 75% (3/4) of truncating mutation carriers manifested with severe hydrops fetalis and required intrauterine transfusions...
March 29, 2018: Haematologica
https://www.readbyqxmd.com/read/29581525/innate-immune-system-activation-in-zebrafish-and-cellular-models-of-diamond-blackfan-anemia
#5
Nadia Danilova, Mark Wilkes, Elena Bibikova, Min-Young Youn, Kathleen M Sakamoto, Shuo Lin
Deficiency of ribosomal proteins (RPs) leads to Diamond Blackfan Anemia (DBA) associated with anemia, congenital defects, and cancer. While p53 activation is responsible for many features of DBA, the role of immune system is less defined. The Innate immune system can be activated by endogenous nucleic acids from non-processed pre-rRNAs, DNA damage, and apoptosis that occurs in DBA. Recognition by toll like receptors (TLRs) and Mda5-like sensors induces interferons (IFNs) and inflammation. Dying cells can also activate complement system...
March 26, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29551269/ribosome-levels-selectively-regulate-translation-and-lineage-commitment-in-human-hematopoiesis
#6
Rajiv K Khajuria, Mathias Munschauer, Jacob C Ulirsch, Claudia Fiorini, Leif S Ludwig, Sean K McFarland, Nour J Abdulhay, Harrison Specht, Hasmik Keshishian, D R Mani, Marko Jovanovic, Steven R Ellis, Charles P Fulco, Jesse M Engreitz, Sabina Schütz, John Lian, Karen W Gripp, Olga K Weinberg, Geraldine S Pinkus, Lee Gehrke, Aviv Regev, Eric S Lander, Hanna T Gazda, Winston Y Lee, Vikram G Panse, Steven A Carr, Vijay G Sankaran
Blood cell formation is classically thought to occur through a hierarchical differentiation process, although recent studies have shown that lineage commitment may occur earlier in hematopoietic stem and progenitor cells (HSPCs). The relevance to human blood diseases and the underlying regulation of these refined models remain poorly understood. By studying a genetic blood disorder, Diamond-Blackfan anemia (DBA), where the majority of mutations affect ribosomal proteins and the erythroid lineage is selectively perturbed, we are able to gain mechanistic insight into how lineage commitment is programmed normally and disrupted in disease...
March 22, 2018: Cell
https://www.readbyqxmd.com/read/29476317/atypical-erythroblastosis-in-a-patient-with-diamond-blackfan-anemia-who-developed-del-20q-myelodysplasia
#7
Motoshi Sonoda, Masataka Ishimura, Yuko Ichimiya, Eiko Terashi, Katsuhide Eguchi, Yasunari Sakai, Hidetoshi Takada, Asahito Hama, Hitoshi Kanno, Tsutomu Toki, Etsuro Ito, Shouichi Ohga
Diamond-Blackfan anemia (DBA) is a congenital red cell aplasia arising from ribosomal protein (RP) defects. Affected patients present with neonatal anemia, occasional dysmorphism, and cancer predisposition. An anemic newborn was diagnosed with DBA due to RPL5 mutation (c.473_474del, p.K158SfsX26). Refractory anemia required regular transfusions and iron chelation therapy. Pancytopenia occurred at age 16 years. Bone-marrow studies showed myelodysplasia, erythroblastosis, and clonal evolution of del(20)(q11...
February 23, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29470984/ribosome-biogenesis-protein-urb2-regulates-hematopoietic-stem-cells-development-via-p53-pathway-in-zebrafish
#8
Pengcheng Cai, Xiaoyu Mao, Jieqiong Zhao, Lingfei Luo
Ribosome biogenesis is a significant process in cells. Dysfunction in this process will result in the defects of protein synthesis and consequently cause the development of specific diseases called ribosomopathies. Mutations in ribosome biogenesis protein Rps19, Rpl5, or Rpl11 can lead to hematopoietic defects in human, thus triggering the disease Diamond Blackfan anemia. However, the regulatory mechanisms of ribosome biogenesis in hematopoiesis remain incompletely understood. In this study, we describe a zebrafish mutant cq42, which carries a nonsense mutation in the gene that encodes ribosome biogenesis 2 homolog (Urb2)...
March 4, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29435930/quantum-language-of-microrna-application-for-new-cancer-therapeutic-targets
#9
Yoichi Robertus Fujii
MicroRNA (miRNA) is the noncoding gene: therefore, the miRNA gene inheritably controls protein gene expression through transcriptional and post-transcriptional levels. Aberrant expression of miRNA genes causes various human diseases, especially cancers. Although cancer is a complex disease, cancer/miRNA implication has yet been grasped from the perspective of miRNA profile in bed side. Since miRNA is the mobile genetic element, the clinical verification of miRNA in microvesicle of blood is too much straggle to predict potential cancer/miRNA associations without bioinformatical computing...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29422612/csde1-binds-transcripts-involved-in-protein-homeostasis-and-controls-their-expression-in-an-erythroid-cell-line
#10
Kat S Moore, Nurcan Yagci, Floris van Alphen, Nahuel A Paolini, Rastislav Horos, Ntsiki M Held, Riekelt H Houtkooper, Emile van den Akker, Alexander B Meijer, Peter A C 't Hoen, Marieke von Lindern
Expression of the RNA-binding protein Csde1 (Cold shock domain protein e1) is strongly upregulated during erythropoiesis compared to other hematopoietic lineages. Csde1 expression is impaired in the severe congenital anemia Diamond Blackfan Anemia (DBA), and reduced expression of Csde1 in healthy erythroblasts impaired their proliferation and differentiation. To investigate the cellular pathways controlled by Csde1 in erythropoiesis, we identified the transcripts that physically associate with Csde1 in erythroid cells...
February 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29408805/ribonuclease-inhibitor-1-regulates-erythropoiesis-by-controlling-gata1-translation
#11
Vijaykumar Chennupati, Diogo Ft Veiga, Kendle M Maslowski, Nicola Andina, Aubry Tardivel, Eric Chi-Wang Yu, Martina Stilinovic, Cedric Simillion, Michel A Duchosal, Manfredo Quadroni, Irene Roberts, Vijay G Sankaran, H Robson MacDonald, Nicolas Fasel, Anne Angelillo-Scherrer, Pascal Schneider, Trang Hoang, Ramanjaneyulu Allam
Ribosomal proteins (RP) regulate specific gene expression by selectively translating subsets of mRNAs. Indeed, in Diamond-Blackfan anemia and 5q- syndrome, mutations in RP genes lead to a specific defect in erythroid gene translation and cause anemia. Little is known about the molecular mechanisms of selective mRNA translation and involvement of ribosomal-associated factors in this process. Ribonuclease inhibitor 1 (RNH1) is a ubiquitously expressed protein that binds to and inhibits pancreatic-type ribonucleases...
April 2, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29400094/gata1-insufficiencies-in-primary-myelofibrosis-and-other-hematopoietic-disorders-consequences-for-therapy
#12
Te Ling, John D Crispino, Maria Zingariello, Fabrizio Martelli, Anna Rita Migliaccio
GATA1, the founding member of a family of transcription factors, plays important roles in the development of hematopoietic cells of several lineages. Although loss of GATA1 has been known to impair hematopoiesis in animal models for nearly 25 years, the link between GATA1 defects and human blood diseases has only recently been realized. Areas covered: Here the current understanding of the functions of GATA1 in normal hematopoiesis and how it is altered in disease is reviewed. GATA1 is indispensable mainly for erythroid and megakaryocyte differentiation...
March 2018: Expert Review of Hematology
https://www.readbyqxmd.com/read/29396846/multi-gene-panel-testing-improves-diagnosis-and-management-of-patients-with-hereditary-anemias
#13
Roberta Russo, Immacolata Andolfo, Francesco Manna, Antonella Gambale, Roberta Marra, Barbara Eleni Rosato, Paola Caforio, Valeria Pinto, Piero Pignataro, Kottayam Radhakrishnan, Sule Unal, Giovanna Tomaiuolo, Gian Luca Forni, Achille Iolascon
Mutations in more than 70 genes cause hereditary anemias (HA), a highly heterogeneous group of rare/low frequency disorders in which we included: hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA) and Diamond-Blackfan anemia; hemolytic anemias due to erythrocyte membrane defects, as hereditary spherocytosis and stomatocytosis; hemolytic anemias due to enzymatic defects. The study describes the diagnostic workflow for HA, based on the development of two consecutive versions of a targeted-NGS panel, including 34 and 71 genes, respectively...
May 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29364875/tissue-selective-effects-of-nucleolar-stress-and-rdna-damage-in-developmental-disorders
#14
Eliezer Calo, Bo Gu, Margot E Bowen, Fardin Aryan, Antoine Zalc, Jialiang Liang, Ryan A Flynn, Tomek Swigut, Howard Y Chang, Laura D Attardi, Joanna Wysocka
Many craniofacial disorders are caused by heterozygous mutations in general regulators of housekeeping cellular functions such as transcription or ribosome biogenesis. Although it is understood that many of these malformations are a consequence of defects in cranial neural crest cells, a cell type that gives rise to most of the facial structures during embryogenesis, the mechanism underlying cell-type selectivity of these defects remains largely unknown. By exploring molecular functions of DDX21, a DEAD-box RNA helicase involved in control of both RNA polymerase (Pol) I- and II-dependent transcriptional arms of ribosome biogenesis, we uncovered a previously unappreciated mechanism linking nucleolar dysfunction, ribosomal DNA (rDNA) damage, and craniofacial malformations...
February 1, 2018: Nature
https://www.readbyqxmd.com/read/29296843/the-severe-phenotype-of-diamond-blackfan-anemia-is-modulated-by-heat-shock-protein-70
#15
Marc Gastou, Sarah Rio, Michaël Dussiot, Narjesse Karboul, Hélène Moniz, Thierry Leblanc, Margaux Sevin, Patrick Gonin, Jérome Larghéro, Carmen Garrido, Anupama Narla, Narla Mohandas, William Vainchenker, Olivier Hermine, Eric Solary, Lydie Da Costa
Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome that exhibits an erythroid-specific phenotype. In at least 70% of cases, DBA is related to a haploinsufficient germ line mutation in a ribosomal protein (RP) gene. Additional cases have been associated with mutations in GATA1. We have previously established that the RPL11+/Mut phenotype is more severe than RPS19+/Mut phenotype because of delayed erythroid differentiation and increased apoptosis of RPL11+/Mut erythroid progenitors...
October 10, 2017: Blood Advances
https://www.readbyqxmd.com/read/29225165/cross-talk-between-tp53-and-c-myc-in-the-pathophysiology-of-diamond-blackfan-anemia-evidence-from-rpl11-deficient-in-vivo-and-in-vitro-models
#16
Anirban Chakraborty, Tamayo Uechi, Yukari Nakajima, Hanna T Gazda, Marie-Françoise O'Donohue, Pierre-Emmanuel Gleizes, Naoya Kenmochi
Mutations in genes encoding ribosomal proteins have been identified in Diamond-Blackfan anemia (DBA), a rare genetic disorder that presents with a prominent erythroid phenotype. TP53 has been implicated in the pathophysiology of DBA with ribosomal protein (RP) L11 playing a crucial role in the TP53 response. Interestingly, RPL11 also controls the transcriptional activity of c-Myc, an oncoprotein that positively regulates ribosome biogenesis. In the present study, we analyzed the consequences of rpl11 depletion on erythropoiesis and ribosome biogenesis in zebrafish...
January 8, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29222326/acquired-ribosomopathies-in-leukemia-and-solid-tumors
#17
REVIEW
Adrianna Vlachos
A mutation in the gene encoding the small subunit-associated ribosomal protein RPS19, leading to RPS19 haploinsufficiency, is one of the ribosomal protein gene defects responsible for the rare inherited bone marrow failure syndrome Diamond Blackfan anemia (DBA). Additional inherited and acquired defects in ribosomal proteins (RPs) continue to be identified and are the basis for a new class of diseases called the ribosomopathies. Acquired RPS14 haploinsufficiency has been found to be causative of the bone marrow failure found in 5q- myelodysplastic syndromes...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222242/treatment-of-inherited-bone-marrow-failure-syndromes-beyond-transplantation
#18
REVIEW
Rodrigo T Calado, Diego V Clé
Despite significant progress in transplantation by the addition of alternative hematopoietic stem cell sources, many patients with inherited bone marrow failure syndromes are still not eligible for a transplant. In addition, the availability of sequencing panels has significantly improved diagnosis by identifying cryptic inherited cases. Androgens are the main nontransplant therapy for bone marrow failure in dyskeratosis congenita and Fanconi anemia, reaching responses in up to 80% of cases. Danazol and oxymetholone are more commonly used, but virilization and liver toxicity are major adverse events...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222241/inherited-bone-marrow-failure-syndromes-considerations-pre-and-posttransplant
#19
REVIEW
Blanche P Alter
Patients with inherited bone marrow failure syndromes are usually identified when they develop hematologic complications such as severe bone marrow failure, myelodysplastic syndrome, or acute myeloid leukemia. They often have specific birth defects or other physical abnormalities that suggest a syndrome, and sequencing of specific genes or next-generation sequencing can determine or confirm the particular syndrome. The 4 most frequent syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222240/old-and-new-tools-in-the-clinical-diagnosis-of-inherited-bone-marrow-failure-syndromes
#20
REVIEW
Allison H West, Jane E Churpek
Patients with inherited bone marrow failure syndromes (IBMFSs) classically present with specific patterns of cytopenias along with congenital anomalies and/or other physical features that are often recognizable early in life. However, increasing application of genomic sequencing and clinical awareness of subtle disease presentations have led to the recognition of IBMFS in pediatric and adult populations more frequently than previously realized, such as those with early onset myelodysplastic syndrome (MDS). Given the well-defined differences in clinical management needs and outcomes for aplastic anemia, acute myeloid leukemia, and MDS in patients with an IBMFS vs those occurring sporadically, as well as nonhematologic comorbidities in patients with IBMFSs, it is critical for hematologists to understand how to approach screening for the currently known IBMFSs...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
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