BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP; SGP Consortium. DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. Am J Hum Genet 2018;103:1038-44. [PMID: 30503519 DOI: 10.1016/j.ajhg.2018.10.024] [Cited by in Crossref: 40] [Cited by in F6Publishing: 29] [Article Influence: 10.0] [Reference Citation Analysis]
Number Citing Articles
1 Knapp KM, Jenkins DE, Sullivan R, Harms FL, von Elsner L, Ockeloen CW, de Munnik S, Bongers EMHF, Murray J, Pachter N, Denecke J, Kutsche K, Bicknell LS. MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency. Eur J Hum Genet 2021;29:1110-20. [PMID: 33654309 DOI: 10.1038/s41431-021-00839-4] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
2 Buonocore F, Achermann JC. Primary adrenal insufficiency: New genetic causes and their long-term consequences. Clin Endocrinol (Oxf) 2020;92:11-20. [PMID: 31610036 DOI: 10.1111/cen.14109] [Cited by in Crossref: 17] [Cited by in F6Publishing: 11] [Article Influence: 5.7] [Reference Citation Analysis]
3 Nakano T, Sasahara Y, Kikuchi A, Moriya K, Niizuma H, Niihori T, Shirota M, Funayama R, Nakayama K, Aoki Y, Kure S. Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus. J Med Genet 2022:jmedgenet-2021-108300. [PMID: 35534205 DOI: 10.1136/jmedgenet-2021-108300] [Reference Citation Analysis]
4 Tsegay PS, Lai Y, Liu Y. Replication Stress and Consequential Instability of the Genome and Epigenome. Molecules 2019;24:E3870. [PMID: 31717862 DOI: 10.3390/molecules24213870] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
5 Buonocore F, McGlacken-Byrne SM, Del Valle I, Achermann JC. Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant. Front Pediatr 2020;8:619041. [PMID: 33381483 DOI: 10.3389/fped.2020.619041] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 2.5] [Reference Citation Analysis]
6 Jelsig AM, Byrjalsen A, Busk Madsen M, Kuhlmann TP, van Overeem Hansen T, Wadt KAW, Karstensen JG. Novel Genetic Causes of Gastrointestinal Polyposis Syndromes. Appl Clin Genet 2021;14:455-66. [PMID: 34866929 DOI: 10.2147/TACG.S295157] [Reference Citation Analysis]
7 Parry DA, Tamayo-Orrego L, Carroll P, Marsh JA, Greene P, Murina O, Uggenti C, Leitch A, Káposzta R, Merő G, Nagy A, Orlik B, Kovács-Pászthy B, Quigley AJ, Riszter M, Rankin J, Reijns MAM, Szakszon K, Jackson AP; Scottish Genomes Partnership., Members of the Scottish Genome Partnership include. PRIM1 deficiency causes a distinctive primordial dwarfism syndrome. Genes Dev 2020;34:1520-33. [PMID: 33060134 DOI: 10.1101/gad.340190.120] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]
8 Bellelli R, Boulton SJ. Spotlight on the Replisome: Aetiology of DNA Replication-Associated Genetic Diseases. Trends in Genetics 2021;37:317-36. [DOI: 10.1016/j.tig.2020.09.008] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 4.0] [Reference Citation Analysis]
9 Yoo HW. Diverse etiologies, diagnostic approach, and management of primary adrenal insufficiency in pediatric age. Ann Pediatr Endocrinol Metab 2021;26:149-57. [PMID: 34610702 DOI: 10.6065/apem.2142150.075] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
10 Dörk T, Hillemanns P, Tempfer C, Breu J, Fleisch MC. Genetic Susceptibility to Endometrial Cancer: Risk Factors and Clinical Management. Cancers (Basel) 2020;12:E2407. [PMID: 32854222 DOI: 10.3390/cancers12092407] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 3.5] [Reference Citation Analysis]
11 Siamishi I, Iwanami N, Clapes T, Trompouki E, O'Meara CP, Boehm T. Lymphocyte-Specific Function of the DNA Polymerase Epsilon Subunit Pole3 Revealed by Neomorphic Alleles. Cell Rep 2020;31:107756. [PMID: 32553171 DOI: 10.1016/j.celrep.2020.107756] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
12 Zhang K, Sui Y, Li WL, Chen G, Wu XC, Kokoska RJ, Petes TD, Zheng DQ. Global genomic instability caused by reduced expression of DNA polymerase ε in yeast. Proc Natl Acad Sci U S A 2022;119:e2119588119. [PMID: 35290114 DOI: 10.1073/pnas.2119588119] [Reference Citation Analysis]
13 Schmit M, Bielinsky AK. Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms. Int J Mol Sci 2021;22:E911. [PMID: 33477564 DOI: 10.3390/ijms22020911] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
14 Eason C, Aleisa A, Jones JR, Prijoles EJ, Wine Lee L. Filling in the gaps on FILS syndrome: A case report and literature review. Pediatr Dermatol 2020;37:915-7. [PMID: 32705701 DOI: 10.1111/pde.14274] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
15 Sviderskiy VO, Blumenberg L, Gorodetsky E, Karakousi TR, Hirsh N, Alvarez SW, Terzi EM, Kaparos E, Whiten GC, Ssebyala S, Tonzi P, Mir H, Neel BG, Huang TT, Adams S, Ruggles KV, Possemato R. Hyperactive CDK2 Activity in Basal-like Breast Cancer Imposes a Genome Integrity Liability that Can Be Exploited by Targeting DNA Polymerase ε. Mol Cell 2020;80:682-698.e7. [PMID: 33152268 DOI: 10.1016/j.molcel.2020.10.016] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 3.5] [Reference Citation Analysis]
16 Mace EM, Paust S, Conte MI, Baxley RM, Schmit MM, Patil SL, Guilz NC, Mukherjee M, Pezzi AE, Chmielowiec J, Tatineni S, Chinn IK, Akdemir ZC, Jhangiani SN, Muzny DM, Stray-Pedersen A, Bradley RE, Moody M, Connor PP, Heaps AG, Steward C, Banerjee PP, Gibbs RA, Borowiak M, Lupski JR, Jolles S, Bielinsky AK, Orange JS. Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest 2020;130:5272-86. [PMID: 32865517 DOI: 10.1172/JCI134966] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 8.0] [Reference Citation Analysis]
17 Stepchenkova EI, Zhuk AS, Cui J, Tarakhovskaya ER, Barbari SR, Shcherbakova PV, Polev DE, Fedorov R, Poliakov E, Rogozin IB, Lada AG, Pavlov YI. Compensation for the absence of the catalytically active half of DNA polymerase ε in yeast by positively selected mutations in CDC28. Genetics 2021;218:iyab060. [PMID: 33844024 DOI: 10.1093/genetics/iyab060] [Reference Citation Analysis]
18 Berti M, Cortez D, Lopes M. The plasticity of DNA replication forks in response to clinically relevant genotoxic stress. Nat Rev Mol Cell Biol 2020;21:633-51. [PMID: 32612242 DOI: 10.1038/s41580-020-0257-5] [Cited by in Crossref: 45] [Cited by in F6Publishing: 33] [Article Influence: 22.5] [Reference Citation Analysis]
19 Van Esch H, Colnaghi R, Freson K, Starokadomskyy P, Zankl A, Backx L, Abramowicz I, Outwin E, Rohena L, Faulkner C, Leong GM, Newbury-Ecob RA, Challis RC, Õunap K, Jaeken J, Seuntjens E, Devriendt K, Burstein E, Low KJ, O'Driscoll M. Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. Am J Hum Genet 2019;104:957-67. [PMID: 31006512 DOI: 10.1016/j.ajhg.2019.03.006] [Cited by in Crossref: 19] [Cited by in F6Publishing: 15] [Article Influence: 6.3] [Reference Citation Analysis]
20 Garbacz MA, Lujan SA, Kunkel TA. Opportunities for new studies of nuclear DNA replication enzymology in budding yeast. Curr Genet 2020;66:299-302. [PMID: 31493018 DOI: 10.1007/s00294-019-01023-4] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
21 Pignatti E, Flück CE. Adrenal cortex development and related disorders leading to adrenal insufficiency. Mol Cell Endocrinol 2021;527:111206. [PMID: 33607267 DOI: 10.1016/j.mce.2021.111206] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
22 Tarnauskaitė Ž, Bicknell LS, Marsh JA, Murray JE, Parry DA, Logan CV, Bober MB, de Silva DC, Duker AL, Sillence D, Wise C, Jackson AP, Murina O, Reijns MAM. Biallelic variants in DNA2 cause microcephalic primordial dwarfism. Hum Mutat 2019;40:1063-70. [PMID: 31045292 DOI: 10.1002/humu.23776] [Cited by in Crossref: 4] [Cited by in F6Publishing: 7] [Article Influence: 1.3] [Reference Citation Analysis]
23 Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-de-Souza B, Hughes CR, Lin L, Prasad R, Allgrove J, Andrews ET, Buchanan CR, Cheetham TD, Crowne EC, Davies JH, Gregory JW, Hindmarsh PC, Hulse T, Krone NP, Shah P, Shaikh MG, Roberts C, Clayton PE, Dattani MT, Thomas NS, Huebner A, Clark AJ, Metherell LA, Achermann JC. Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK. J Endocr Soc 2021;5:bvab086. [PMID: 34258490 DOI: 10.1210/jendso/bvab086] [Reference Citation Analysis]
24 Bizard AH, Allemand JF, Hassenkam T, Paramasivam M, Sarlós K, Singh MI, Hickson ID. PICH and TOP3A cooperate to induce positive DNA supercoiling. Nat Struct Mol Biol 2019;26:267-74. [PMID: 30936532 DOI: 10.1038/s41594-019-0201-6] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 4.7] [Reference Citation Analysis]
25 Capalbo D, Moracas C, Cappa M, Balsamo A, Maghnie M, Wasniewska MG, Greggio NA, Baronio F, Bizzarri C, Ferro G, Di Lascio A, Stancampiano MR, Azzolini S, Patti G, Longhi S, Valenzise M, Radetti G, Betterle C, Russo G, Salerno M. Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort. J Clin Endocrinol Metab 2021;106:762-73. [PMID: 33247909 DOI: 10.1210/clinem/dgaa881] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
26 Olley G, Pradeepa MM, Grimes GR, Piquet S, Polo SE, FitzPatrick DR, Bickmore WA, Boumendil C. Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect. Nat Commun 2021;12:3127. [PMID: 34035299 DOI: 10.1038/s41467-021-23500-6] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 5.0] [Reference Citation Analysis]
27 Creff J, Besson A. Functional Versatility of the CDK Inhibitor p57Kip2. Front Cell Dev Biol 2020;8:584590. [PMID: 33117811 DOI: 10.3389/fcell.2020.584590] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 5.5] [Reference Citation Analysis]
28 Borel V, Boeing S, Van Wietmarschen N, Sridharan S, Hill BR, Ombrato L, Perez-Lloret J, Jackson D, Goldstone R, Boulton SJ, Nussenzweig A, Bellelli R. Disrupted control of origin activation compromises genome integrity upon destabilization of Polε and dysfunction of the TRP53-CDKN1A/P21 axis. Cell Rep 2022;39:110871. [PMID: 35649380 DOI: 10.1016/j.celrep.2022.110871] [Reference Citation Analysis]
29 Knapp KM, Sullivan R, Murray J, Gimenez G, Arn P, D'Souza P, Gezdirici A, Wilson WG, Jackson AP, Ferreira C, Bicknell LS. Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. J Med Genet 2020;57:195-202. [PMID: 31784481 DOI: 10.1136/jmedgenet-2019-106396] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]