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Publications:  Dr Hemanth Tummala

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)
10.1038/s41467-020-14829-5
https://qmro.qmul.ac.uk/xmlui/handle/123456789/64355
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,
10.1073/pnas.2002857117
https://qmro.qmul.ac.uk/xmlui/handle/123456789/65771
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.
10.1182/blood-2018-03-837799
https://qmro.qmul.ac.uk/xmlui/handle/123456789/42823
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.
10.1073/pnas.1803275115
https://qmro.qmul.ac.uk/xmlui/handle/123456789/43003
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.
10.3324/haematol.2017.183855
https://qmro.qmul.ac.uk/xmlui/handle/123456789/45343
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.
10.1038/s41375-018-0134-9
https://qmro.qmul.ac.uk/xmlui/handle/123456789/38923
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.
10.3324/haematol.2017.167056
https://qmro.qmul.ac.uk/xmlui/handle/123456789/23183
Al Seraihi A, Rio-Machin A, Tawana K, Boedoer 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,
10.1182/blood.V128.22.3916.3916
https://qmro.qmul.ac.uk/xmlui/handle/123456789/62708
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.
10.3324/haematol.2016.147769
https://qmro.qmul.ac.uk/xmlui/handle/123456789/15912
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.
10.1089/nat.2015.0571
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.
10.1016/j.ajhg.2016.05.002
https://qmro.qmul.ac.uk/xmlui/handle/123456789/15700
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
10.1038/leu.2016.124
https://qmro.qmul.ac.uk/xmlui/handle/123456789/12225
Tummala H, Dokal I(2016). TGF-β Pathway Inhibition Signals New Hope for Fanconi Anemia. Cell Stem Cell vol. 18, (5) 567-568.
10.1016/j.stem.2016.04.008
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. LANCET. vol. 387, 29-29.
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.
10.1182/blood-2015-03-633388
Tummala H, Walne AJ(2015). Long tails, short telomeres: Dyskeratosis congenita. Oncotarget vol. 6, (16) 13856-13857.
10.18632/oncotarget.4388
https://qmro.qmul.ac.uk/xmlui/handle/123456789/15331
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.
10.1172/JCI78963
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.
10.1016/j.ajhg.2014.01.007
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.
10.1016/j.copbio.2013.05.354
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, Hupp TR, Zhelev N(2012). Pharmacological inhibition of ATM by KU55933 stimulates ATM transcription. Exp Biol Med (Maywood) vol. 237, (6) 622-634.
10.1258/ebm.2012.011378
Tummala H, Khalil HS, Goszcz K, Tupone MG, Stoyanova V, Nikolova E, Mitev V, Zhelev N (2012). A quantitative integrated systems biology approach for modeling cell cycle pathways in normal and tumor cells. CANCER RESEARCH. vol. 72,
10.1158/1538-7445.AM2012-4913
Khalil HS, Tummala H, Hupp T, Zhelev N (2012). 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,
10.1158/1538-7445.AM2012-3103
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.
10.5504/BBEQ.2012.0024
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.
10.5504/BBEQ.2011.0102
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, S58-S58.
10.1016/j.copbio.2011.05.161
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, S59-S59.
10.1016/j.copbio.2011.05.163
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, S25-S25.
10.1016/j.copbio.2011.05.044
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.
10.1016/j.copbio.2011.05.374
Tummala H, Khalil HS, Zhelev N(2011). REPAIR, ABORT, IGNORE? STRATEGIES FOR DEALING WITH UV DAMAGE. BIOTECHNOLOGY & BIOTECHNOLOGICAL EQUIPMENT vol. 25, (3) 2443-2446.
10.5504/BBEQ.2011.0079
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)
10.1371/journal.pone.0021156
https://qmro.qmul.ac.uk/xmlui/handle/123456789/15125
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.
10.1042/BST0371389
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.
10.1167/iovs.06-0292
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