D. Layton

发表

Cell-type-specific transcriptional regulation of PIGM underpins the divergent hematologic phenotype in inherited GPl deficiency.

I. Roberts, Valentina S Caputo, A. Karadimitris, 2014, Blood.

Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry.

B. Green, D. Layton, A. Stephens, 2001, Blood cells, molecules & diseases.

Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1

H. Lutz, A. Iolascon, R. Ficarella, 2005, Nature Genetics.

Prenatal diagnosis of triosephosphate isomerase deficiency.

K. Nicolaides, D. Layton, R. Arya, 1996, Blood.

Hereditary red cell enzymopathies.

R. Arya, D. Layton, R. Arya, 1995, Blood reviews.

Blood leucocyte count in the human fetus.

K. Nicolaides, R. Snijders, D. Layton, 1992, Archives of disease in childhood.

Reversal of metabolic block in glycolysis by enzyme replacement in triosephosphate isomerase-deficient cells.

D. Layton, M. Lalloz, B. Wild, 1999, Blood.

Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex.

M. Tanner, L. Bruce, G. Stewart, 2002, Blood.

Mutation of the von Hippel-Lindau gene alters human cardiopulmonary physiology.

P. Robbins, P. Ratcliffe, M. McMullin, 2008, Advances in experimental medicine and biology.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

NON-INVASIVE ISOLATION OF CONSTITUTIONAL DNA FOR GENETIC ANALYSIS

G. Mufti, K. Tobal, D. Layton, 1989, The Lancet.

RED CELLS, IRON, AND ERYTHROPOIESIS Transcriptional and epigenetic basis for restoration of G6PD enzymatic activity in human G6PD-de ﬁ cient cells

L. Luzzatto, E. Terpos, Deena Iskander, 2014 .

Clinical problem-solving. The wolf at the door.

T. Vyse, B. Schreiber, D. Layton, 2012, The New England journal of medicine.

TREATMENT FOR MYELODYSPLASTIC SYNDROMES

G. Mufti, D. Layton, A. Pagliuca, 1987, The Lancet.

Loss of ras oncogene mutation in a myelodysplastic syndrome after low-dose cytarabine therapy.

G. Mufti, C. Bartram, J. Lyons, 1988, The New England journal of medicine.

Fetal plasma interferon gamma concentration in normal pregnancy.

K. Nicolaides, B. Thilaganathan, D. Layton, 1993, American journal of obstetrics and gynecology.

Analysis of lymphocyte phenotypes in cord blood from early gestation fetuses

D. Vergani, K. Nicolaides, M. Peakman, 1992, Clinical and experimental immunology.

Mass Spectral Analysis of Asymmetric Hemoglobin Hybrids: Demonstration of Hb FS (α2γβS) in Sickle Cell Disease

K. Nicolaides, S. Ofori-Acquah, B. Green, 2001 .

Myelodysplastic syndromes: Their history, evolution and relation to acute myeloid leukaemia

G. Mufti, D. Layton, 1986, Blut.

Disseminated Trichosporon beigelil

D. Layton, R. Arya, E. Higgins, 2005 .

Localisation ofcisRegulatory Elements at the β-Globin Locus: Analysis of Hybrid Haplotype Chromosomes

S. Ofori-Acquah, D. Layton, M. Lalloz, 1999 .

Dominant influence of gamma-globin promoter polymorphisms on fetal haemoglobin expression in sickle cell disease.

S. Ofori-Acquah, G. Serjeant, D. Layton, 2004, Cellular and molecular biology.

Localisation of cis regulatory elements at the beta-globin locus: analysis of hybrid haplotype chromosomes.

S. Ofori-Acquah, D. Layton, M. Lalloz, 1999, Biochemical and biophysical research communications.

Nucleotide variation regulates the level of enhancement by hypersensitive site 2 of the beta-globin locus control region.

S. Ofori-Acquah, D. Layton, M. Lalloz, 2001, Blood cells, molecules & diseases.

Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency.

D. Morton, C. Kung, S. Sheth, 2019, The New England journal of medicine.

P1548: LONG-TERM TREATMENT WITH ORAL MITAPIVAT IS ASSOCIATED WITH NORMALIZATION OF HEMOGLOBIN LEVELS IN PATIENTS WITH PYRUVATE KINASE DEFICIENCY

H. Al‐Samkari, D. Layton, R. Grace, 2022, HemaSphere.

Mitapivat versus Placebo for Pyruvate Kinase Deficiency.

F. Galactéros, V. Beynon, M. Verhovsek, 2022, The New England journal of medicine.

P1545: DURABILITY OF HEMOGLOBIN RESPONSE AND REDUCTION IN TRANSFUSION BURDEN IS MAINTAINED OVER TIME IN PATIENTS WITH PYRUVATE KINASE DEFICIENCY TREATED WITH MITAPIVAT IN A LONG-TERM EXTENSION STUDY

V. Viprakasit, F. Galactéros, V. Beynon, 2021, HemaSphere.

P1544: BONE MINERAL DENSITY REMAINS STABLE IN PYRUVATE KINASE DEFICIENCY PATIENTS RECEIVING LONG-TERM TREATMENT WITH MITAPIVAT

V. Viprakasit, F. Galactéros, H. Al‐Samkari, 2021, HemaSphere.

The myelodysplastic syndromes.

G. Mufti, D. Layton, 1987, Springer Berlin Heidelberg.

ras Oncogenes in Myelodysplastic Syndromes

C. Bartram, D. Layton, 1992 .

Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping.

P. Sham, M. Rhodes, M. Ohadi, 1999, American journal of human genetics.

Haemophagocytic lymphohistiocytosis: experience at two U.K. centres

G. Mieli-Vergani, D. Layton, J. Pritchard, 1994, British journal of haematology.

Competing Interests: PHM, CWP,

Thomas G. Smith, P. Robbins, P. Ratcliffe, 2022 .

Hyperinfection with strongyloides after treatment for adult T cell leukaemia-lymphoma in an African immigrant.

G. Mufti, D. Layton, A. Pagliuca, 1988, BMJ.

Mutation of the human FMS gene (M-CSF receptor) in myelodysplastic syndromes and acute myeloid leukemia.

G. Mufti, K. Tobal, D. Layton, 1990, Leukemia.

Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

D. Layton, M. Lalloz, L. Thompson, 1999, Blood cells, molecules & diseases.

Sickle cell disease patients in two London trusts: Genotyping including RH variants

D. Layton, F. Regan, Shane Grimsley, 2021, Transfusion medicine.

Targeted therapy for inherited GPI deficiency.

Y. Maeda, T. Kinoshita, I. Roberts, 2007, The New England journal of medicine.

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

R. Houlston, M. Ferguson, Y. Maeda, 2006, Nature Medicine.

Splenic infarction in a patient with sickle cell trait and hereditary spherocytosis

B. Bain, D. Layton, C. Wong, 2011, American journal of hematology.

Hemoglobinopathies due to structural mutations

D. Layton, S. Okoli, 2019, Molecular Hematology 4e.

Effects of AG-348, a Pyruvate Kinase Activator, on Anemia and Hemolysis in Patients with Pyruvate Kinase Deficiency: Data from the DRIVE PK Study

D. Morton, C. Kung, J. Hixon, 2016 .

Myelofibrosis in primary myelodysplastic syndromes: a clinico‐morphological study of 10 cases

D. Layton, A. Pagliuca, A. Manoharan, 1989, British journal of haematology.

Congenital sideroblastic anemia in a female

B. Bain, B. Clark, D. Layton, 2018, American journal of hematology.

Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis.

C. Datz, B. Paulweber, E. Penner, 1997, Journal of hepatology.

Mechanism of Polycomb recruitment to CpG islands revealed by inherited disease-associated mutation.

I. Roberts, Valentina S Caputo, A. Karadimitris, 2013, Human molecular genetics.

Transcriptional and epigenetic basis for restoration of G6PD enzymatic activity in human G6PD-deficient cells.

L. Luzzatto, E. Terpos, Deena Iskander, 2014, Blood.

Molecular analysis of the genotype-phenotype relationship in factor X deficiency

D. Cooper, M. Krawczak, A. Wacey, 2000, Human Genetics.

Clinicopathological features of acute undifferentiated leukaemia with a stem cell phenotype

M. Mangi, D. Layton, A. Etches, 1990, British journal of haematology.

Early-Onset Osteopenia and Osteoporosis in Patients with Pyruvate Kinase Deficiency

V. Viprakasit, F. Galactéros, M. Morado, 2020 .

S116: LONG-TERM EFFICACY AND SAFETY OF THE ORAL PYRUVATE KINASE ACTIVATOR MITAPIVAT IN ADULTS WITH NON—TRANSFUSION-DEPENDENT ALPHA- OR BETA-THALASSEMIA

A. Lal, H. Al‐Samkari, D. Layton, 2021, HemaSphere.

Identification and characterization of the novel FAD-binding lobe G75S mutation in cytochrome b(5) reductase: an aid to determine recessive congenital methemoglobinemia status in an infant.

T. Vulliamy, M. Percy, D. Layton, 2006, Blood cells, molecules & diseases.

Two novel mutations in the reduced nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase gene of a patient with generalized type, hereditary methemoglobinemia.

Y. Fukumaki, H. Sumimoto, D. Layton, 1996, Blood.

Fetal leucocyte count in rhesus disease.

K. Nicolaides, R. Snijders, D. Layton, 1992, Archives of disease in childhood.

Myelodysplastic relapse of de-novo AML: a heterogeneous entity?

G. Mufti, R. Ireland, D. Layton, 1987, Leukemia research.

Sweet's syndrome and myelodysplasia

G. Mufti, D. Layton, D. Knight, 2004, Blut.

Disseminated Trichosporon Beigelii Infection in an Immunosuppressed Child

D. Layton, R. Arya, E. Higgins, 1994, Journal of the Royal Society of Medicine.

Towards enzyme-replacement treatment in triosephosphate isomerase deficiency

D. Layton, B. Wild, A. Humphries, 1999, The Lancet.

Evidence for founder effect of the glu104asp substitution and identification of new mutations in triosephosphate isomerase deficiency

D. Layton, M. Lalloz, R Arya, 1997, Human mutation.

DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency.

D. Layton, A. Bellingham, M. Morgan, 1993, Human molecular genetics.

Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome.

T. Vulliamy, P. Bolton-Maggs, P. Mason, 2003, Blood cells, molecules & diseases.

Dehydrated hereditary stomatocytosis

B. Bain, D. Layton, 2016, American journal of hematology.

Protein 4.2 is critical to CD47-membrane skeleton attachment in human red cells.

D. Discher, K. Dahl, C. Westhoff, 2004, Blood.

Evidence for founder effect of the glu104asp substitution and identification of new mutations in triosephosphate isomerase deficiency

D. Layton, M. Lalloz, R. Arya, 1997, Human mutation.

Ancestral origin of variation in the triosephosphate isomerase gene promoter

D. Layton, M. Lalloz, A. Humphries, 1999, Human Genetics.

Mass spectral analysis of asymmetric hemoglobin hybrids: demonstration of Hb FS (alpha2gammabetaS) in sickle cell disease.

K. Nicolaides, S. Ofori-Acquah, B. Green, 2001, Analytical biochemistry.

Quantification of Ggamma- and Agamma-globins by electrospray ionisation mass spectrometry.

S. Ofori-Acquah, B. Green, D. Layton, 1998, International journal of molecular medicine.