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Genetics and genomics of bone marrow failure syndrome

Kim HY, Kim HJ, Kim SH

Inherited bone marrow failure syndrome (IBMFS) is a group of clinically heterogeneous disorders characterized by significant hematological cytopenias of one or more hematopoietic cell lineages and is associated with an...
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Inactivation of the NHEJ Activity of DNA-PKcs Prevents Fanconi Anemia Pre-Leukemic HSC Expansion

Chatla S, Wilson AF, Pang Q

Fanconi anemia (FA) is a genetic disorder characterized by bone marrow failure and high risk of cancer particularly leukemia. Here we show that inactivation of the non-homologous end-joining (NHEJ) activity...
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Current insights into inherited bone marrow failure syndromes

Chung NG, Kim M

  • KMID: 2353160
  • Korean J Pediatr.
  • 2014 Aug;57(8):337-344.
Inherited bone marrow failure syndrome (IBMFS) encompasses a heterogeneous and complex group of genetic disorders characterized by physical malformations, insufficient blood cell production, and increased risk of malignancies. They often...
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Long-term follow-up of Fanconi anemia: clinical manifestation and treatment outcome

Yoon BG, Kim HN, Han UJ, Jang HI, Han DK, Baek HJ, Hwang TJ, Kook H

PURPOSE: The aim of this study was to characterize Korean patients with Fanconi anemia (FA), which is a rare but very challenging genetic disease. METHODS: The medical records of 12 FA...
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Silencing of Fanconi Anemia Complementation Group F Exhibits Potent Chemosensitization of Mitomycin C Activity in Breast Cancer Cells

Yu J, Zhao L, Li Y, Li N, He M, Bai X, Yu Z, Zheng Z, Mi X, Wang E, Wei M

PURPOSE: Fanconi anemia complementation group F (FANCF) is a key factor to maintaining the function of Fanconi anaemia/BRCA (FA/BRCA) pathway, a DNA-damage response pathway. However, the functional role of FANCF...
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A Case Report of Fanconi Anemia Diagnosed by Genetic Testing Followed by Prenatal Diagnosis

Lee HJ, Park S, Kang HJ, Jun JK, Lee JA, Lee DS, Park SS, Seong MW

Fanconi anemia (FA) is a rare genetic disorder affecting multiple body systems. Genetic testing, including prenatal testing, is a prerequisite for the diagnosis of many clinical conditions. However, genetic testing...
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Growth Hormone Treatment for Fanconi Anemia with Growth Hormone Deficiency

Kim MK, Kang MJ, Chung HR, Shin CH, Yang SW

  • KMID: 2192852
  • J Korean Soc Pediatr Endocrinol.
  • 2010 Dec;15(3):198-202.
Short stature is common in case of Fanconi anemia (FA) and may result from inherent abnormalities of FA or endocrinopathies, such as a growth hormone deficiency and hypothyroidism. Growth hormone...
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A Case of Fanconi Anemia Diagnosed by a Chromosome Breakage Test with Skin Fibroblasts

Lee JJ, Yun KB, Kim SY, Lee MJ, Jung HJ, Park JE, Kim HJ

Fanconi anemia is an autosomal recessive disease that's characterized by congenital anomalies, defective hematopoiesis and a high risk of developing acute myeloid leukemia and certain solid tumors. The clinical phenotype...
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Unrelated Cord Blood Transplantation Using Non-TBI Conditioning Regimen in a Child with Fanconi Anemia

Park SS, Park JA, Lim YT

  • KMID: 2279858
  • Clin Pediatr Hematol Oncol.
  • 2007 Apr;14(1):68-72.
Fanconi anemia is an autosomal recessive disorder characterized by progressive bone marrow failure, growth retardation, abnormal skin pigmentation, developmental anomalies and marked predisposition to myelodysplastic syndrome or acute myeloid leukemia....
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Triplication of 1q in a Patient with Myelodysplastic Syndrome

Cho HS, Kim MK, Hyun MS

Triplication of 1q is a very rare chromosomal abnormality in hematologic malignancies, and it has been related to Fanconi anemia. The clinical significance of this abnormality is unknown. We report...
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Overexpression of the Fanconi Anemia A Gene in Hela and MCF10A Cells

Park WH

BACKGROUND: Fanconi Anemia (FA) is an autosomal recessive inherited disease, which is characterized by developmental abnormalities, progressive bone marrow failure and a predisposition to cancer. The phenotypes of FA cells...
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Infant with Fanconi Anemia Presenting with Myelodysplastic Syndrome

Cho TH, Kook H, Ryu NE, Kim CJ, Lee JH, Hwang TJ

  • KMID: 1535337
  • Korean J Pediatr Hematol Oncol.
  • 1998 Oct;5(2):322-327.
PURPOSE: Fanconi anemia(FA) is a rare autosomal recessive disorder characterized by progressive bone marrow failure and congenital malformations. Patients with FA have aplastic anemia(> 90%), leukemia(10~15%), myelodysplasia(5%) and liver(5%) and...
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Comparison of Combined Immune Suppression, Bone Marrow Transplantation and Androgen Treatment in Childhood Severe Aplastic Anemia

Hwang MJ, Kook H, Kim CJ, Park HJ, Kim SY, Park A, Hwang TJ

  • KMID: 1535331
  • Korean J Pediatr Hematol Oncol.
  • 1998 Oct;5(2):266-277.
PURPOSE: The purpose of this study is to compare treatment response and survival according to treatment modalities, such as allogeneic bone marrow transplantation (BMT), combined immunosuppression and supportive care, and...
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