Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
2000 1
2010 1
2015 1
2017 1
2020 3
2022 1
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

11 results

Results by year

Filters applied: . Clear all
Page 1
Ribosomopathies: New Therapeutic Perspectives.
Orgebin E, Lamoureux F, Isidor B, Charrier C, Ory B, Lézot F, Baud'huin M. Orgebin E, et al. Cells. 2020 Sep 11;9(9):2080. doi: 10.3390/cells9092080. Cells. 2020. PMID: 32932838 Free PMC article. Review.
The present manuscript will review our knowledge of ribosomopathies, discuss current treatments, and introduce the new therapeutic perspectives based on recent research. Diamond-Blackfan anemia, currently treated with blood transfusion prior to steroids, coul …
The present manuscript will review our knowledge of ribosomopathies, discuss current treatments, and introduce the new therapeutic perspecti …
Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.
Wlodarski MW, Vlachos A, Farrar JE, Da Costa LM, Kattamis A, Dianzani I, Belendez C, Unal S, Tamary H, Pasauliene R, Pospisilova D, de la Fuente J, Iskander D, Wolfe L, Liu JM, Shimamura A, Albrecht K, Lausen B, Bechensteen AG, Tedgard U, Puzik A, Quarello P, Ramenghi U, Bartels M, Hengartner H, Farah RA, Al Saleh M, Hamidieh AA, Yang W, Ito E, Kook H, Ovsyannikova G, Kager L, Gleizes PE, Dalle JH, Strahm B, Niemeyer CM, Lipton JM, Leblanc TM; international Diamond-Blackfan anaemia syndrome guideline panel. Wlodarski MW, et al. Lancet Haematol. 2024 May;11(5):e368-e382. doi: 10.1016/S2352-3026(24)00063-2. Lancet Haematol. 2024. PMID: 38697731 Review.
Diamond-Blackfan anaemia (DBA), first described over 80 years ago, is a congenital disorder of erythropoiesis with a predilection for birth defects and cancer. ...These changes include lowering the prednisone maintenance dose to maximum 0.3 mg/kg per day, rai …
Diamond-Blackfan anaemia (DBA), first described over 80 years ago, is a congenital disorder of erythropoiesis with a pr …
p53 in the Molecular Circuitry of Bone Marrow Failure Syndromes.
Rakotopare J, Toledo F. Rakotopare J, et al. Int J Mol Sci. 2023 Oct 6;24(19):14940. doi: 10.3390/ijms241914940. Int J Mol Sci. 2023. PMID: 37834388 Free PMC article. Review.
Further studies confirmed, in humans and mice, that germline mutations affecting TP53 or its regulator MDM4 may cause short telomeres and alter hematopoiesis, but also revealed features of Diamond-Blackfan anemia (DBA) or Fanconi anemia (FA), two BMFSs …
Further studies confirmed, in humans and mice, that germline mutations affecting TP53 or its regulator MDM4 may cause short telomeres and al …
[Bone marrow failure and TP53 activating mutations].
Ito E. Ito E. Rinsho Ketsueki. 2022;63(9):1115-1125. doi: 10.11406/rinketsu.63.1115. Rinsho Ketsueki. 2022. PMID: 36198537 Review. Japanese.
We discovered germline TP53 activating mutations in IBMFS cases mimicking Diamond-Blackfan anemia using whole-exome sequencing. These cases were recognized as having a novel disorder, germline TP53 activation syndrome (bone marrow failure syndrome 5; OMIN). . …
We discovered germline TP53 activating mutations in IBMFS cases mimicking Diamond-Blackfan anemia using whole-exome seq …
Diamond-blackfan anemia and cyclosporine therapy revisited.
Alessandri AJ, Rogers PC, Wadsworth LD, Davis JH. Alessandri AJ, et al. J Pediatr Hematol Oncol. 2000 Mar-Apr;22(2):176-9. doi: 10.1097/00043426-200003000-00020. J Pediatr Hematol Oncol. 2000. PMID: 10779036 Review.
A girl with Diamond-Blackfan anemia diagnosed in infancy started cyclosporine A (CSA) therapy at 9 years and 8 months of age after experiencing unacceptable side effects while receiving prednisone. ...A trial of CSA therapy should be considered in pati …
A girl with Diamond-Blackfan anemia diagnosed in infancy started cyclosporine A (CSA) therapy at 9 years and 8 m …
Bone marrow transplant in Diamond-Blackfan anemia.
Alter BP. Alter BP. Bone Marrow Transplant. 1998 May;21(9):965-6. doi: 10.1038/sj.bmt.1701243. Bone Marrow Transplant. 1998. PMID: 9613795 Review. No abstract available.
Ribosomopathies: how a common root can cause a tree of pathologies.
Danilova N, Gazda HT. Danilova N, et al. Dis Model Mech. 2015 Sep;8(9):1013-26. doi: 10.1242/dmm.020529. Dis Model Mech. 2015. PMID: 26398160 Free PMC article. Review.
Defects in ribosome biogenesis are associated with a group of diseases called the ribosomopathies, of which Diamond-Blackfan anemia (DBA) is the most studied. Ribosomes are composed of ribosomal proteins (RPs) and ribosomal RNA (rRNA). ...
Defects in ribosome biogenesis are associated with a group of diseases called the ribosomopathies, of which Diamond-Blackfan …
Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.
Bezzerri V, Api M, Allegri M, Fabrizzi B, Corey SJ, Cipolli M. Bezzerri V, et al. Int J Mol Sci. 2020 Jun 30;21(13):4672. doi: 10.3390/ijms21134672. Int J Mol Sci. 2020. PMID: 32630050 Free PMC article. Review.
The pathogenesis of IBMFS involves mutations in several genes which encode for proteins involved in DNA repair, telomere biology and ribosome biogenesis. The classical IBMFS include Shwachman-Diamond syndrome (SDS), Diamond-Blackfan anemia (DBA), Fanco …
The pathogenesis of IBMFS involves mutations in several genes which encode for proteins involved in DNA repair, telomere biology and ribosom …
Late Effects Screening Guidelines after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects After Pediatric HCT.
Dietz AC, Savage SA, Vlachos A, Mehta PA, Bresters D, Tolar J, Bonfim C, Dalle JH, de la Fuente J, Skinner R, Boulad F, Duncan CN, Baker KS, Pulsipher MA, Lipton JM, Wagner JE, Alter BP. Dietz AC, et al. Biol Blood Marrow Transplant. 2017 Sep;23(9):1422-1428. doi: 10.1016/j.bbmt.2017.05.022. Epub 2017 May 19. Biol Blood Marrow Transplant. 2017. PMID: 28533057 Free PMC article. Review.
Patients with inherited bone marrow failure syndromes (IBMFS), such as Fanconi anemia (FA), dyskeratosis congenita (DC), or Diamond Blackfan anemia (DBA), can have hematologic manifestations cured through hematopoietic cell transplantation (HCT). ...
Patients with inherited bone marrow failure syndromes (IBMFS), such as Fanconi anemia (FA), dyskeratosis congenita (DC), or Diamon …
11 results