Publications by authors named "Inderjeet Dokal"

85Publications

A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure.

Proc Natl Acad Sci U S A 2020 07 7;117(29):17151-17155. Epub 2020 Jul 7.

Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, E1 2AT London, United Kingdom.

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July 2020

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.

Blood 2018 09 31;132(12):1349-1353. Epub 2018 Jul 31.

Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.

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September 2018

Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease.

Haematologica 2018 07 8;103(7):e284-e287. Epub 2018 Mar 8.

Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts NHS Trust, UK.

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July 2018

Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies.

Haematologica 2017 08 11;102(8):e293-e296. Epub 2017 May 11.

Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, UK.

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August 2017

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

Haematologica 2016 10 9;101(10):1180-1189. Epub 2016 Sep 9.

Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts NHS Trust, London, UK.

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October 2016

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.

Am J Hum Genet 2016 07 23;99(1):115-24. Epub 2016 Jun 23.

Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK. Electronic address:

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July 2016

TGF-β Pathway Inhibition Signals New Hope for Fanconi Anemia.

Cell Stem Cell 2016 05;18(5):567-8

Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London and Barts Health, London, E12AT, UK. Electronic address:

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May 2016

Triallelic and epigenetic-like inheritance in human disorders of telomerase.

Blood 2015 Jul 29;126(2):176-84. Epub 2015 May 29.

Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom; Barts Health, London, United Kingdom.

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July 2015

Clinical utility gene card for: Dyskeratosis congenita - update 2015.

Eur J Hum Genet 2015 Apr 3;23(4). Epub 2014 Sep 3.

Paediatric Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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April 2015

Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4.

Haematologica 2014 Jul 24;99(7):e109-11. Epub 2014 Apr 24.

Centre for Paediatrics, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London Barts Health NHS Trust, London, UK.

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July 2014

ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.

Am J Hum Genet 2014 Feb;94(2):246-56

Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK; Barts Health NHS Trust, London E1 1BB, UK.

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February 2014

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

Am J Hum Genet 2013 Mar 28;92(3):448-53. Epub 2013 Feb 28.

Centre for Paediatrics, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children's Hospital, London, UK.

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March 2013

Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita.

Int Ophthalmol 2012 Dec 20;32(6):615-22. Epub 2012 Jul 20.

Section of Hematology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey.

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December 2012

Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.

Am J Hum Genet 2012 May 26;90(5):888-92. Epub 2012 Apr 26.

Barts and The London School of Medicine and Dentistry, Queen Mary, University of London, London, UK.

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May 2012

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.

Br J Haematol 2012 Jul 26;158(2):242-248. Epub 2012 Apr 26.

Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children's Hospital, London, UK.

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July 2012

Exome sequencing identifies MPL as a causative gene in familial aplastic anemia.

Haematologica 2012 Apr 16;97(4):524-8. Epub 2011 Dec 16.

Centre for Paediatrics, Blizard Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, 4 Newark Street, London, UK.

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April 2012

Dyskeratosis congenita.

Authors:
Inderjeet Dokal

Hematology Am Soc Hematol Educ Program 2011 ;2011:480-6

Blizard Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.

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April 2012

Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.

PLoS One 2011 13;6(9):e24383. Epub 2011 Sep 13.

Centre for Paediatrics, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.

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January 2012

Clinical utility gene card for: dyskeratosis congenita.

Eur J Hum Genet 2011 Nov 25;19(11). Epub 2011 May 25.

Centre for Paediatrics, Blizard Institute for Cell and Molecular Science, Barts and The London, 4 Newark Street, Whitechapel, London, UK.

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November 2011

Dyskeratosis congenita and the DNA damage response.

Br J Haematol 2011 Jun 8;153(5):634-43. Epub 2011 Apr 8.

Centre for Paediatrics, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, 4 Newark Street, London, UK.

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June 2011

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.

Hum Mol Genet 2010 Nov 3;19(22):4453-61. Epub 2010 Sep 3.

Centre for Paediatrics, Blizard Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children’s Hospital, 4 Newark Street, London, UK.

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November 2010

Hepatitis-associated aplastic anemia presenting as a familial bone marrow failure syndrome.

J Pediatr Hematol Oncol 2009 Nov;31(11):884-7

Department of Pediatrics, Division of Pediatric Hematology and Oncology, Research Institute, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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November 2009

Dyskeratosis congenita, stem cells and telomeres.

Biochim Biophys Acta 2009 Apr 7;1792(4):371-9. Epub 2009 Feb 7.

Barts and the London School of Medicine and Dentistry, Queen Mary University of London, UK.

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April 2009

Dyskeratosis congenita: the first NIH clinical research workshop.

Pediatr Blood Cancer 2009 Sep;53(3):520-3

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland 20892, USA.

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September 2009

Advances in the understanding of dyskeratosis congenita.

Br J Haematol 2009 Apr 4;145(2):164-72. Epub 2009 Feb 4.

Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

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April 2009

Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients.

Br J Haematol 2009 Mar 20;144(5):771-81. Epub 2008 Nov 20.

Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

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March 2009

Telomerase dysfunction and dyskeratosis congenita.

Cytotechnology 2004 Jun;45(1-2):13-22

Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College London, Hammersmith Hospital, Du Cane Road, London, W12 ONN, United Kingdom,

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June 2004

Ataxia and pancytopenia caused by a mutation in TINF2.

Hum Genet 2008 Dec 1;124(5):507-13. Epub 2008 Nov 1.

Cell Biology Program, Research Institute, University of Toronto, Toronto, ON, Canada.

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December 2008

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.

Blood 2008 Nov 30;112(9):3594-600. Epub 2008 Jul 30.

Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children's Hospital, London, United Kingdom.

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November 2008

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.

Proc Natl Acad Sci U S A 2008 Jun 3;105(23):8073-8. Epub 2008 Jun 3.

Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, London E12AT, United Kingdom.

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June 2008

Fanconi anemia is a highly penetrant cancer susceptibility syndrome.

Authors:
Inderjeet Dokal

Haematologica 2008 Apr;93(4):486-8

Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, London, England.

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April 2008

Inherited aplastic anaemias/bone marrow failure syndromes.

Blood Rev 2008 May 31;22(3):141-53. Epub 2007 Dec 31.

Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, London, UK.

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May 2008

Dyskeratosis Congenita: a historical perspective.

Mech Ageing Dev 2008 Jan-Feb;129(1-2):48-59. Epub 2007 Oct 30.

Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London, Queen Mary's School of Medicine and Dentistry, The Blizard Building, 4 Newark Street, London E1 2AT, UK.

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April 2008

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.

Blood 2007 Dec 4;110(13):4198-205. Epub 2007 Sep 4.

Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London, Queen Mary's School of Medicine and Dentistry, London, UK.

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December 2007

Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation.

Pediatr Transplant 2007 Sep;11(6):584-94

Department of Paediatrics, St. Mary's Hospital, and Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London, Queen Mary's Schoo of Medicine and Dentistry, UK.

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September 2007

Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.

Haematologica 2007 Aug 20;92(8):1013-20. Epub 2007 Jul 20.

Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London,Queen Mary's School of Medicine and Dentistry, The Blizard Building, 4 Newark Street, London, E1 2AT, UK.

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August 2007

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.

Hum Mol Genet 2007 Jul 16;16(13):1619-29. Epub 2007 May 16.

Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London, Queen Mary's School of Medicine and Dentistry, The Blizard Building, 4 Newark Street, London E1 2AT, UK.

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July 2007

Fanconi's anaemia and related bone marrow failure syndromes.

Authors:
Inderjeet Dokal

Br Med Bull 2006 11;77-78:37-53. Epub 2006 Sep 11.

Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London, Queen Mary's School of Medicine and Dentistry, Blizard Building, 4 Newark Street, Whitechapel, London E1 2AT, UK.

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March 2007

Dyskeratosis congenita.

Semin Hematol 2006 Jul;43(3):157-66

Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, UK.

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July 2006

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.

Blood 2006 Apr 6;107(7):2680-5. Epub 2005 Dec 6.

Department of Haematology, Hammersmith Hospital, Du Cane Rd, London, W12 ONN, United Kingdom.

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April 2006

Dyskeratosis congenita: a disorder of defective telomere maintenance?

Int J Hematol 2005 Oct;82(3):184-9

Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College London, Hammersmith Hospital, London, United Kingdom.

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October 2005

A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M.

Nat Genet 2005 Sep 21;37(9):958-63. Epub 2005 Aug 21.

Division of Experimental Hematology, Cincinnati Children's Hospital Research Foundation and University of Cincinnati College of Medicine, 3333 Burnet Avenue, Cincinnati, Ohio 45229, USA.

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September 2005

Dyskeratosis congenita: telomerase, telomeres and anticipation.

Curr Opin Genet Dev 2005 Jun;15(3):249-57

Department of Haematology, Imperial College London, Hammersmith Hospital, Du Cane Road, London, W12 0NN, UK.

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June 2005

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.

Blood Cells Mol Dis 2005 May-Jun;34(3):257-63

Department of Haematology, Division of Investigative Science, Imperial College London, Hammersmith Hospital, London W12 ONN, UK.

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October 2005

Peripheral neuropathy--a novel finding in dyskeratosis congenita.

Eur J Paediatr Neurol 2005 ;9(2):85-9

Dubowitz Neuromuscular Centre, Department of Paediatrics and Neonatal Medicine, Imperial College London, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK.

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July 2005

Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.

Expert Rev Mol Med 2004 Dec 20;6(26):1-23. Epub 2004 Dec 20.

Department of Haematology, Division of Investigative Science, Imperial College London, Hammersmith Hospital Campus, Du Cane Road, London, W12 0NN, UK.

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December 2004

Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency.

Blood 2004 Dec 19;104(13):3936-42. Epub 2004 Aug 19.

Department of Haematology, Division of Investigative Science, Imperial College London, Hammersmith Hospital, London, United Kingdom.

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December 2004

Fanconi anaemia and leukaemia - clinical and molecular aspects.

Br J Haematol 2004 Jul;126(2):176-91

Clinical Genetics Unit, Institute of Child Health, London, UK.

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July 2004

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.

Nat Genet 2004 May 18;36(5):447-9. Epub 2004 Apr 18.

Department of Haematology, Division of Investigative Science, Imperial College London, Hammersmith Hospital, DuCane Rd, London W12 ONN, UK.

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May 2004

Molecular diagnosis of Fanconi anemia and dyskeratosis congenita.

Methods Mol Med 2004 ;91:3-17

Department of Haematology, Imperial College, London, UK.

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December 2003

Dyskeratosis congenita: its link to telomerase and aplastic anaemia.

Blood Rev 2003 Dec;17(4):217-25

Department of Haematology-Division of Investigative Science, Faculty of Medicine, Imperial College, Hammersmith Hospital, Commonwealth Building, London, UK.

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December 2003

Inherited aplastic anaemia.

Authors:
Inderjeet Dokal

Hematol J 2003 ;4(1):3-9

Department of Haematology, Imperial College, Hammersmith Hospital, London, England.

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July 2003

Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice.

Oncogene 2002 Oct;21(50):7740-4

Department of Internal Medicine, Div Hematology, Washington University School of Medicine, St Louis, Missouri, MO 63110, USA.

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October 2002

Detection of implanted splenic tissue using 99m-Technetium-labelled heat-damaged autologous red cells.

Br J Haematol 2002 Jul;118(1)

Department of Haematology, Imperial College of Science, Technology and Medicine, Hammersmith Hospital, London, UK.

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July 2002

Association between aplastic anaemia and mutations in telomerase RNA.

Lancet 2002 Jun;359(9324):2168-70

Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College of Science, Technology and Medicine, Hammersmith Hospital, London W12 0NN, UK.

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June 2002