Search Results - "Fisher, Christopher A." :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Direct correction of haemoglobin E β-thalassaemia using base editors

Direct correction of haemoglobin E β-thalassaemia using base editors

by Badat, Mohsin, Ejaz, Ayesha, Hua, Peng, Rice, Siobhan, Zhang, Weijiao, Hentges, Lance D, Fisher, Christopher A, Denny, Nicholas, Schwessinger, Ron, Yasara, Nirmani, Roy, Noemi B A, Issa, Fadi, Roy, Andi, Telfer, Paul, Hughes, Jim, Mettananda, Sachith, Higgs, Douglas R, Davies, James O J
Published in Nature communications (19.04.2023)

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Journal Article

Selective silencing of α-globin by the histone demethylase inhibitor IOX1: a potentially new pathway for treatment of β-thalassemia

Selective silencing of α-globin by the histone demethylase inhibitor IOX1: a potentially new pathway for treatment of β-thalassemia

by Mettananda, Sachith, Fisher, Christopher A, Sloane-Stanley, Jackie A, Taylor, Stephen, Oppermann, Udo, Gibbons, Richard J, Higgs, Douglas R
Published in Haematologica (Roma) (01.03.2017)

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Journal Article

Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities

Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities

by Scott, Caroline, Downes, Damien J, Brown, Jill M, Beagrie, Robert, Olijnik, Aude-Anais, Gosden, Matthew, Schwessinger, Ron, Fisher, Christopher A, Rose, Anna, Ferguson, David J P, Johnson, Errin, Hill, Quentin A, Okoli, Steven, Renella, Raffaele, Ryan, Kate, Brand, Marjorie, Hughes, Jim, Roy, Noemi B A, Higgs, Douglas R, Babbs, Christian, Buckle, Veronica J
Published in Haematologica (Roma) (01.11.2021)

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Journal Article

Genotype-phenotype association analysis identifies the role of α globin genes in modulating disease severity of β thalassaemia intermedia in Sri Lanka

Genotype-phenotype association analysis identifies the role of α globin genes in modulating disease severity of β thalassaemia intermedia in Sri Lanka

by Perera, Shiromi, Allen, Angela, Silva, Ishari, Hapugoda, Menaka, Wickramarathne, M Nirmali, Wijesiriwardena, Indira, Allen, Stephen, Rees, David, Efremov, Dimitar G, Fisher, Christopher A, Weatherall, David J, Premawardhena, Anuja
Published in Scientific reports (12.07.2019)

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Journal Article

Mutations in the chromatin-associated protein ATRX

Mutations in the chromatin-associated protein ATRX

by Gibbons, Richard J, Wada, Takahito, Fisher, Christopher A, Malik, Nicola, Mitson, Matthew J, Steensma, David P, Fryer, Alan, Goudie, David R, Krantz, Ian D, Traeger-Synodinos, Joanne
Published in Human mutation (01.06.2008)

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Journal Article

A "One-Stop" Screening Protocol for Haemoglobinopathy Traits and Iron Deficiency in Sri Lanka

A "One-Stop" Screening Protocol for Haemoglobinopathy Traits and Iron Deficiency in Sri Lanka

by Allen, Angela, Perera, Shiromi, Perera, Luxman, Rodrigo, Rexan, Mettananda, Sachith, Matope, Agnes, Silva, Ishari, Hameed, Nizri, Fisher, Christopher A, Olivieri, Nancy, Weatherall, David J, Allen, Stephen, Premawardhena, Anuja
Published in Frontiers in molecular biosciences (09.08.2019)

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Journal Article

Synergistic silencing of α-globin and induction of γ-globin by histone deacetylase inhibitor, vorinostat as a potential therapy for β-thalassaemia

Synergistic silencing of α-globin and induction of γ-globin by histone deacetylase inhibitor, vorinostat as a potential therapy for β-thalassaemia

by Mettananda, Sachith, Yasara, Nirmani, Fisher, Christopher A, Taylor, Stephen, Gibbons, Richard, Higgs, Doug
Published in Scientific reports (12.08.2019)

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Journal Article

A remarkable case of HbH disease illustrates the relative contributions of the α-globin enhancers to gene expression

A remarkable case of HbH disease illustrates the relative contributions of the α-globin enhancers to gene expression

by Badat, Mohsin, Davies, James O.J., Fisher, Christopher A., Downes, Damien J., Rose, Anna, Glenthøj, Andreas B., van Beers, Eduard J., Harteveld, Cornelis L., Higgs, Douglas R.
Published in Blood (28.01.2021)

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Journal Article

First case of dizygous twins with X‐linked α‐thalassemia/mental retardation syndrome showing wide clinical variability

First case of dizygous twins with X‐linked α‐thalassemia/mental retardation syndrome showing wide clinical variability

by Pavone, Piero, Taibi, Rosaria, Lionetti, Elena, Incorpora, Gemma, Fisher, Christopher A
Published in Pediatrics international (01.04.2010)

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Journal Article

An evolutionarily ancient mechanism for regulation of hemoglobin expression in vertebrate red cells

An evolutionarily ancient mechanism for regulation of hemoglobin expression in vertebrate red cells

by Miyata, Masato, Gillemans, Nynke, Hockman, Dorit, Demmers, Jeroen A.A., Cheng, Jan-Fang, Hou, Jun, Salminen, Matti, Fisher, Christopher A., Taylor, Stephen, Gibbons, Richard J., Ganis, Jared J., Zon, Leonard I., Grosveld, Frank, Mulugeta, Eskeatnaf, Sauka-Spengler, Tatjana, Higgs, Douglas R., Philipsen, Sjaak
Published in Blood (16.07.2020)

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Journal Article

Haemoglobin variants, iron status and anaemia in Sri Lankan adolescents with low red cell indices: A cross sectional survey

Haemoglobin variants, iron status and anaemia in Sri Lankan adolescents with low red cell indices: A cross sectional survey

by Rodrigo, Rexan, Allen, Angela, Manampreri, Aresha, Perera, Luxman, Fisher, Christopher A., Allen, Stephen, Weatherall, David J., Premawardhena, Anuja
Published in Blood cells, molecules, & diseases (01.07.2018)

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Journal Article

Rare Hemoglobin Variants: Hb G-Szuhu (HBB: c.243C>G), Hb G-Coushatta (HBB: c.68A>C) and Hb Mizuho (HBB: c.206T>C) in Sri Lankan Families

Rare Hemoglobin Variants: Hb G-Szuhu (HBB: c.243C>G), Hb G-Coushatta (HBB: c.68A>C) and Hb Mizuho (HBB: c.206T>C) in Sri Lankan Families

by Perera, P. Shiromi, Silva, Ishari, Hapugoda, Menaka, Wickramarathne, Merita N., Wijesiriwardena, Indira, Efremov, Dimitar G., Fisher, Christopher A., Weatherall, David J., Premawardhena, Anuja
Published in Hemoglobin (01.01.2015)

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Journal Article

A novel molecular basis for β thalassemia intermedia poses new questions about its pathophysiology

A novel molecular basis for β thalassemia intermedia poses new questions about its pathophysiology

by Premawardhena, Anuja, Fisher, Christopher A., Olivieri, Nancy F., de Silva, Shanthimala, Sloane-Stanley, Jackie, Wood, William G., Weatherall, David J.
Published in Blood (01.11.2005)

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Journal Article

The molecular basis for the thalassaemias in Sri Lanka

The molecular basis for the thalassaemias in Sri Lanka

by Fisher, Christopher A., Premawardhena, Anuja, De Silva, Shanthimala, Perera, Giathra, Rajapaksa, Shabna, Olivieri, Nancy A., Old, John M., Weatherall, David J.
Published in British journal of haematology (01.05.2003)

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Journal Article

Identification of Three Novel Mutations [−41 (A>C), codon 24 (-G), and IVS-I-109 (−T)], in a Study of β-Thalassemia Alleles in the Isfahan Region of Iran

Identification of Three Novel Mutations [−41 (A>C), codon 24 (-G), and IVS-I-109 (−T)], in a Study of β-Thalassemia Alleles in the Isfahan Region of Iran

by Salehi, Rasoul, Fisher, Christopher A., Bignell, Patricia A., Eslami, Gilda, Old, John M.
Published in Hemoglobin (01.01.2010)

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Journal Article

A novel mutation in the last exon of ATRX in a patient with α‐thalassemia myelodysplastic syndrome

A novel mutation in the last exon of ATRX in a patient with α‐thalassemia myelodysplastic syndrome

by Costa, Daniel B., Fisher, Christopher A., Miller, Kenneth B., Pihan, German A., Steensma, David P., Gibbons, Richard J., Higgs, Douglas R.
Published in European journal of haematology (01.05.2006)

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Journal Article

First case of dizygous twins with X-linked [alpha]-thalassemia/mental retardation syndrome showing wide clinical variability

First case of dizygous twins with X-linked [alpha]-thalassemia/mental retardation syndrome showing wide clinical variability

by Pavone, Piero, Taibi, Rosaria, Lionetti, Elena, Incorpora, Gemma, Fisher, Christopher A
Published in Pediatrics international (01.04.2010)

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Journal Article

Anxiety, depression, and sleep disorders: their relationship and reduction with neurotherapy

Anxiety, depression, and sleep disorders: their relationship and reduction with neurotherapy

by Fisher, Christopher A
Year of Publication 01.01.2010

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Dissertation

Case report: A novel mutation in the last exon of ATRX in a patient with alpha -thalassemia myelodysplastic syndrome

Case report: A novel mutation in the last exon of ATRX in a patient with alpha -thalassemia myelodysplastic syndrome

by Costa, Daniel B, Fisher, Christopher A, Miller, Kenneth B, Pihan, German A, Steensma, David P, Gibbons, Richard J, Higgs, Douglas R
Published in European journal of haematology (01.05.2006)

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Journal Article

5-Azacytidine treatment of the patient with ATMDS

5-Azacytidine treatment of the patient with ATMDS

by Costa, Daniel B., Fisher, Christopher A., Miller, Kenneth B., Pihan, German A., Steensma, David P., Gibbons, Richard J., Higgs, Douglas R.
Published in European journal of haematology (01.05.2006)

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Journal Article