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Research

Publications: Dr Hemanth Tummala

Dokal I, Tummala H, Vulliamy T ( 2022 ) . Inherited bone marrow failure in the pediatric patient . Blood vol. 140 , ( 6 ) 556 - 570 .
Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M et al. ( 2022 ) . Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita . American Journal of Human Genetics vol. 109 , ( 8 ) 1472 - 1483 .
Armes H, Rio-Machin A, Krizsán S, Bödör C, Kaya F, Bewicke-Copley F, Alnajar J, Walne A et al. ( 2022 ) . Acquired somatic variants in inherited myeloid malignancies . Leukemia vol. 36 , ( 5 ) 1377 - 1381 .
Armes H, Bewicke-Copley F, Rio-Machin A, Di Bella D, Philippe C, Wozniak A, Tummala H, Wang J et al. ( 2022 ) . Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment . British Journal of Haematology
Tummala H, Walne A, Dokal I ( 2022 ) . The biology and management of dyskeratosis congenita and related disorders of telomeres . Expert Review of Hematology vol. 15 , ( 8 ) 685 - 696 .
Walne AJ, Vulliamy T, Bewicke-Copley F, Wang J, Alnajar J, Bridger MG, Ma B, Tummala H et al. ( 2021 ) . Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes . Blood Advances vol. 5 , ( 23 ) 5360 - 5371 .
Rio-Machin A, Vulliamy T, Hug N, Walne A, Tawana K, Cardoso S, Ellison A, Pontikos N et al. ( 2020 ) . The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants . Nature Communications vol. 11 , ( 1 )
Dokal I, Tummala H, Vulliamy T, Walne A ( 2020 ) . A frameshift variant in the specificity protein 1 triggers superactivation of SP1-mediated transcription in familial bone marrow failure . Proceedings of the National Academy of Sciences of USA Article 32636268 ,
DOKAL I, TUMMALA H, VULLIAMY T ( 2018 ) . homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes . Blood vol. 132 , 1349 - 1353 .
Tummala H, Dokal AD, Walne A, Ellison A, Cardoso S, Amirthasigamanipillai S, Kirwan M, Browne I et al. ( 2018 ) . Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants . Proc Natl Acad Sci U S A vol. 115 , ( 30 ) 7777 - 7782 .
Walne A, Tummala H, Ellison A, Cardoso S, Sidhu J, Sciuccati G, Vulliamy T, Dokal I ( 2018 ) . Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease . Haematologica vol. 103 , ( 7 ) e284 - e287 .
Al Seraihi AF, Rio-Machin A, Tawana K, Bödör C, Wang J, Nagano A, Heward JA, Iqbal S et al. ( 2018 ) . GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML . Leukemia vol. 32 , ( 11 ) 2502 - 2507 .
Cardoso SR, Ellison ACM, Walne AJ, Cassiman D, Raghavan M, Kishore B, Ancliff P, Rodríguez-Vigil C et al. ( 2017 ) . Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies . Haematologica vol. 102 , ( 8 ) e293 - e296 .
Al Seraihi A, Rio-Machin A, Tawana K, Bödör C, Araf S, Heward JA, Smith M, Iqbal S et al. ( 2016 ) . Variable Penetrance Is Linked with Monoallelic Gene Expression in Inherited GATA2-Mutated MDS/AML . Blood . vol. 128 , 3916 - 3916 .
Walne AJ, Collopy L, Cardoso S, Ellison A, Plagnol V, Albayrak C, Albayrak D, Kilic SS et al. ( 2016 ) . Markedwith dyskeratosisoverlap of congenitafour geneticconfoundssyndromesclinical diagnosis . Haematologica vol. 101 , ( 10 ) 1180 - 1189 .
McGlinchey JCP, Tummala H, Lester DH ( 2016 ) . Correction of the Pathogenic Alternative Splicing, Caused by the Common GNB3 c.825C>T Allele, Using a Novel, Antisense Morpholino . Nucleic Acid Therapeutics vol. 26 , ( 4 ) 257 - 265 .
Tummala H, Walne AJ, Williams M, Bockett N, Collopy L, Cardoso S, Ellison A, Wynn R et al. ( 2016 ) . DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation . American Journal of Human Genetics vol. 99 , ( 1 ) 115 - 124 .
Rio-Machin A, Cardoso S, Tawana K, Wang J, Chelala C, Plagnol V, Wallis Y, Ryan G et al. ( 2016 ) . WHOLE EXOME SEQUENCING REVEALS NOVEL CANDIDATE GENES IN FAMILIAL MDS/AML . HAEMATOLOGICA . vol. 101 , 205 - 206 .
DOKAL I ( 2016 ) . Germline heterozygous DDX41 vriants in a subset of familial myelodysplasia and acute myeloid leukaemia . Leukemia
Tummala H, Dokal I ( 2016 ) . TGF-β Pathway Inhibition Signals New Hope for Fanconi Anemia . Cell Stem Cell vol. 18 , ( 5 ) 567 - 568 .
Collins J, Tummala H, Collopy L, Vulliamy T, Dokal I ( 2016 ) . In-vitro analysis of the effects of TA65 and danazol on the proliferation and telomerase activity of T lymphocytes in bone marrow failure syndromes . The Lancet . vol. 387 ,
Collopy LC, Walne AJ, Cardoso S, De La Fuente J, Mohamed M, Toriello H, Tamary H, Ling AJYV et al. ( 2015 ) . Triallelic and epigenetic-like inheritance in human disorders of telomerase . Blood vol. 126 , ( 2 ) 176 - 184 .
Tummala H, Walne AJ ( 2015 ) . Long tails, short telomeres: Dyskeratosis congenita . Oncotarget vol. 6 , ( 16 ) 13856 - 13857 .
Tummala H, Walne A, Collopy L, Cardoso S, De La Fuente J, Lawson S, Powell J, Cooper N et al. ( 2015 ) . Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita . Journal of Clinical Investigation vol. 125 , ( 5 ) 2151 - 2160 .
Tummala H, Kirwan M, Walne AJ, Hossain U, Jackson N, Pondarre C, Plagnol V, Vulliamy T et al. ( 2014 ) . ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function . Am J Hum Genet vol. 94 , ( 2 ) 246 - 256 .
Tummala H, Khalil HS, Islam MR, Jones SJ, Ellis IR, D’Ascanio I, Zhelev N, Lester DH ( 2013 ) . The alternate GNB3 splice variant, Gβ3s, exhibits an altered signalling response to EGF stimulation, which leads to enhanced cell migration . Biodiscovery vol. 9 ,
Trifonov D, Tummala H, Clements S, Zhelev N ( 2013 ) . Effect of roscovitine on cardiac hypertrophy in human stem cell derived cardiomyocytes . Current Opinion in Biotechnology . vol. 24 , s114 - s115 .
Khalil HS, Tummala H, DeCaris L, Zhelev N ( 2013 ) . Abstract 1697: Pharmacological inhibition of ATM results in mitochondrial biogenesis in AMPK independent manner . Cancer Research . vol. 73 , 1697 - 1697 .
Tummala H, Goltsov A, Khalil H, Sproul A, Scott F, Mitev V, Zhelev N ( 2012 ) . Advocating the need of a systems biology approach for personalised prognosis and treatment of B-CLL patients . Biodiscovery ( 6 )
Khalil HS, Tummala H, Zhelev N ( 2012 ) . ATM in focus: A damage sensor and cancer target . Biodiscovery vol. 5 ,
Tummala H, Khalil HS, Ascanio ID, Wehner D, Lester DH, Babraj J, Zhelev N ( 2012 ) . Human 825C > T polymorphism in GNB3 gene promotes enhanced cell migration by inducing cytosolic calcium influx and hyper phosphorylation of ERK regulated mTOR pathway . FEBS JOURNAL . vol. 279 , 141 - 141 .
Khalil HS, Tummala H, De Caris L, Zhelev N ( 2012 ) . Phosphorylated ATM at Ser-1981 (pATM) undergoes COPI mediated Golgi export upon double stranded DNA damage . FEBS JOURNAL . vol. 279 , 146 - 146 .
Khalil HS, Tummala H, Chakarov S, Zhelev N, Lane DP ( 2012 ) . Targeting ATM pathway for therapeutic intervention in cancer . Biodiscovery vol. 1 ,
Khalil HS, Tummala H, Hupp TR, Zhelev N ( 2012 ) . Pharmacological inhibition of ATM by KU55933 stimulates ATM transcription . Exp Biol Med (Maywood) vol. 237 , ( 6 ) 622 - 634 .
Khalil HS, Tummala H, Hupp T, Zhelev N ( 2012 ) . Abstract 3103: Differences in the DDR enzymes activation kinetics between normal and cancer cells could be utilized to achieve targeted cellular sensitivity towards genotoxic agents . Cancer Research . vol. 72 , 3103 - 3103 .
Tummala H, Khalil HS, Goszcz K, Tupone MG, Stoyanova V, Nikolova E, Mitev V, Zhelev N ( 2012 ) . Abstract 4913: A quantitative integrated systems biology approach for modeling cell cycle pathways in normal and tumor cells . Cancer Research . vol. 72 , 4913 - 4913 .
De Caris L, Cecceroni L, Tummala H ( 2012 ) . On a Break with the X: The Role of Repair of Double-Stranded DNA Breaks in X-Linked Disease . Biotechnology & Biotechnological Equipment vol. 26 , ( 2 ) 2829 - 2837 .
Clyde R, Tummala H, Khalil HS, Goszcz K, Lucka I, Tupone MG, Zwirek M, Cavicchi L et al. ( 2011 ) . A novel quantitative systems biology approach to cancer research and treatment . Current Opinion in Biotechnology . vol. 22 ,
Idowu MA, Goltsov A, Khalil HS, Tummala H, Zhelev N, Bown J ( 2011 ) . Cancer research and personalised medicine: a new approach to modelling time-series data using analytical methods and Half systems . Current Opinion in Biotechnology . vol. 22 ,
Tummala H, Khalil HS, Nikolova E, Mitev V, Zhelev N ( 2011 ) . Cell-based nanosensors for systems biology research and drug development . Current Opinion in Biotechnology . vol. 22 ,
Khalil HS, Tummala H, Oluwaseun OA, Zhelev N ( 2011 ) . Novel insights of Ataxia Telangiectasia Mutated (ATM) regulation and its potential as a target for therapeutic intervention in cancer . Current Opinion in Biotechnology . vol. 22 , s115 - s116 .
Petkova R, Tummala H, Zhelev N ( 2011 ) . Nothing in Excess—Lessons Learned from the Expression of High-Mobility Group Proteins Type a in Non-Cancer and Cancer Cells . Biotechnology & Biotechnological Equipment vol. 25 , ( 4 ) 2572 - 2575 .
Tummala H, Khalil HS, Zhelev N ( 2011 ) . Repair, Abort, Ignore? Strategies for Dealing With UV Damage . Biotechnology & Biotechnological Equipment vol. 25 , ( 3 ) 2443 - 2446 .
Tummala H, Fleming S, Hocking PM, Wehner D, Naseem Z, Ali M, Inglehearn CF, Zhelev N et al. ( 2011 ) . The D153del mutation in GNB3 gene causes tissue specific signalling patterns and an abnormal renal morphology in Rge chickens . PLoS One vol. 6 , ( 8 )
Mizielinska SM, Greenwood SM, Tummala H, Connolly CN ( 2009 ) . Rapid dendritic and axonal responses to neuronal insults . Biochem Soc Trans vol. 37 , ( Pt 6 ) 1389 - 1393 .
ROMIO L, CASTRO S, LOPES C, HAMES R, FEATHER SA, FRY AM, WILSON SW, WOOLF AS et al. ( 2007 ) . Abstracts of papers presented at the seventeenth Genetics Society's Mammalian Genetics and Development Workshop held at the Institute of Child Health, University College London on 9 and 10 November 2006 . Genetics Research vol. 89 , ( 3 ) 181 - 188 .
Tummala H, Ali M, Getty P, Hocking PM, Burt DW, Inglehearn CF, Lester DH ( 2007 ) . Discovery of a novel GNB3 mutation that causes the retinopathy globe enlarged phenotype and possibly hypertension in chickens . GENETICS RESEARCH . vol. 89 , 186 - 186 .
Tummala H, Ali M, Getty P, Hocking PM, Burt DW, Inglehearn CF, Lester DH ( 2006 ) . Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens . Invest Ophthalmol Vis Sci vol. 47 , ( 11 ) 4714 - 4718 .