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)

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, 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,

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. 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.

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.

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.

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.

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,

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,

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.

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.

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.

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.

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.

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.

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.

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.