Molecular Oncology and Ovarian Pathologies


1: Veitia RA, Pilsworth J, Todeschini AL, Huntsman D. Reply to “An alternative
miRISC targets a cancer-associated coding sequence mutation in FOXL2”. EMBO J.
2021 Aug 16;40(16):e107517. doi: 10.15252/embj.2020107517. PMID: 34396573;
PMCID: PMC8365250.

2: Picolo F, Grandchamp A, Piégu B, Rolland AD, Veitia RA, Monget P. Genes
Encoding Teleost Orthologs of Human Haploinsufficient and Monoallelically
Expressed Genes Remain in Duplicate More Frequently Than the Whole Genome. Int J
Genomics. 2021 Jul 29;2021:9028667. doi: 10.1155/2021/9028667. PMID: 34368340;
PMCID: PMC8346308.

3: Pilsworth JA, Todeschini AL, Neilson SJ, Cochrane DR, Lai D, Anttonen M,
Heikinheimo M, Huntsman DG, Veitia RA. FOXL2 in adult-type granulosa cell tumour
of the ovary: oncogene or tumour suppressor gene? J Pathol. 2021
Nov;255(3):225-231. doi: 10.1002/path.5771. Epub 2021 Sep 1. PMID: 34338304.

4: Veitia RA, Birchler JA. Gene-dosage issues: a recurrent theme in whole genome
duplication events. Trends Genet. 2021 Jun 29:S0168-9525(21)00147-5. doi:
10.1016/j.tig.2021.06.006. Epub ahead of print. PMID: 34215425.

5: Barakizou H, Gannouni S, Kamoun T, Mehdi M, Amary F, Huma Z, Todeschini AL,
Veitia R, Donaldson M. Precocious pseudo-puberty in a 2-year-old girl,
presenting with bilateral ovarian enlargement and progressing to unilateral
juvenile granulosa cell tumour. J Clin Res Pediatr Endocrinol. 2021 Apr 14. doi:
10.4274/jcrpe.galenos.2021.2020.0039. Epub ahead of print. PMID: 33849266.

6: Herman L, Legois B, Todeschini AL, Veitia RA. Genomic exploration of the
targets of FOXL2 and ESR2 unveils their implication in cell migration, invasion,
and adhesion. FASEB J. 2021 Apr;35(4):e21355. doi: 10.1096/fj.202002444R. PMID:

7: Bermúdez-Guzmán L, Veitia RA. Insights into the pathogenicity of missense
variants in the forkhead domain of FOX proteins underlying Mendelian disorders.
Hum Genet. 2021 Jul;140(7):999-1010. doi: 10.1007/s00439-021-02267-2. Epub 2021
Feb 27. PMID: 33638707.

8: Innan H, Vaiman D, Veitia RA. Predictable increase in female reproductive
window: A simple model connecting age of reproduction, menopause, and longevity.
Bioessays. 2021 May;43(5):e2000233. doi: 10.1002/bies.202000233. Epub 2021 Feb
11. PMID: 33569823.

9: Veitia RA. A reply to: Longitudinal changes in the frequency of mosaic
chromosome Y loss in peripheral blood cells of aging men varies
profoundly between individuals. Eur J Hum Genet. 2021 Sep;29(9):1321-1322. doi:
10.1038/s41431-020-00801-w. Epub 2021 Jan 18. PMID: 33462397; PMCID: PMC8440669.

10: Veitia RA. Clinical Genetics paving the way to the future. Clin Genet. 2021
Feb;99(2):217-218. doi: 10.1111/cge.13899. Epub 2020 Dec 26. PMID: 33368166.

11: Herman L, Todeschini AL, Veitia RA. Forkhead Transcription Factors in Health
and Disease. Trends Genet. 2021 May;37(5):460-475. doi:
10.1016/j.tig.2020.11.003. Epub 2020 Dec 7. PMID: 33303287.

12: Felipe-Medina N, Caburet S, Sánchez-Sáez F, Condezo YB, de Rooij DG, Gómez-H
L, Garcia-Valiente R, Todeschini AL, Duque P, Sánchez-Martin MA, Shalev SA,
Llano E, Veitia RA, Pendás AM. A missense in HSF2BP causing primary ovarian
insufficiency affects meiotic recombination by its novel interactor
C19ORF57/BRME1. Elife. 2020 Aug 26;9:e56996. doi: 10.7554/eLife.56996. PMID:
32845237; PMCID: PMC7498267.

13: Alvarez-Mora MI, Todeschini AL, Caburet S, Perets LP, Mila M, Younis JS,
Shalev S, Veitia RA. An exome-wide exploration of cases of primary ovarian
insufficiency uncovers novel sequence variants and candidate genes. Clin Genet.
2020 Sep;98(3):293-298. doi: 10.1111/cge.13803. Epub 2020 Jul 28. PMID:

14: Elzaiat M, Flatters D, Sierra-Díaz DC, Legois B, Laissue P, Veitia RA. DHH
pathogenic variants involved in 46,XY disorders of sex development
differentially impact protein self-cleavage and structural conformation. Hum
Genet. 2020 Nov;139(11):1455-1470. doi: 10.1007/s00439-020-02189-5. Epub 2020
Jun 5. PMID: 32504121.

15: Caburet S, Heddar A, Dardillac E, Creux H, Lambert M, Messiaen S, Tourpin S,
Livera G, Lopez BS, Misrahi M. Homozygous hypomorphic <i>BRCA2</i> variant in
primary ovarian insufficiency without cancer or Fanconi anaemia trait. J Med
Genet. 2020 Jun 1:jmedgenet-2019-106672. doi: 10.1136/jmedgenet-2019-106672.
Epub ahead of print. PMID: 32482800.

16: Govindaraju DR, Innan H, Veitia RA. The Muller’s Ratchet and Aging. Trends
Genet. 2020 Jun;36(6):395-402. doi: 10.1016/j.tig.2020.02.004. Epub 2020 Mar 18.
PMID: 32396833.

17: Veitia RA. Primary ovarian insufficiency, meiosis and DNA repair. Biomed J.
2020 Apr;43(2):115-123. doi: 10.1016/ Epub 2020 May 4. PMID:
32381463; PMCID: PMC7283561.

18: Shi X, Chen C, Yang H, Hou J, Ji T, Cheng J, Veitia RA, Birchler JA. The
Gene Balance Hypothesis: Epigenetics and Dosage Effects in Plants. Methods Mol
Biol. 2020;2093:161-171. doi: 10.1007/978-1-0716-0179-2_12. PMID: 32088896.

19: Benayoun BA, Veitia RA. Special issue on “Molecular genetics of aging and
longevity”: a critical time in the field of geroscience. Hum Genet. 2020
Mar;139(3):275-276. doi: 10.1007/s00439-020-02125-7. PMID: 32052140; PMCID:

20: Penrad-Mobayed M, Perrin C, Herman L, Todeschini AL, Nigon F, Cosson B,
Caburet S, Veitia RA. Conventional and unconventional interactions of the
transcription factor FOXL2 uncovered by a proteome-wide analysis. FASEB J. 2020
Jan;34(1):571-587. doi: 10.1096/fj.201901573R. Epub 2019 Nov 25. PMID: 31914586.

21: Innan H, Veitia R, Govindaraju DR. Genetic and epigenetic Muller’s ratchet
as a mechanism of frailty and morbidity during aging: a demographic genetic
model. Hum Genet. 2020 Mar;139(3):409-420. doi: 10.1007/s00439-019-02067-9. Epub
2019 Nov 11. PMID: 31713020.

22: Veitia RA. MIRAGE Syndrome: Phenotypic Rescue by Somatic Mutation and
Selection. Trends Mol Med. 2019 Nov;25(11):937-940. doi:
10.1016/j.molmed.2019.08.008. Epub 2019 Oct 14. PMID: 31624021.

23: Veitia RA. DNA Content, Cell Size, and Cell Senescence. Trends Biochem Sci.
2019 Aug;44(8):645-647. doi: 10.1016/j.tibs.2019.04.013. Epub 2019 May 31. PMID:

24: Johnson AF, Nguyen HT, Veitia RA. Causes and effects of haploinsufficiency.
Biol Rev Camb Philos Soc. 2019 Oct;94(5):1774-1785. doi: 10.1111/brv.12527. Epub
2019 May 31. PMID: 31149781.

25: Grassmann F; International AMD Genomics Consortium (IAMDGC), Weber BHF,
Veitia RA. Insights into the loss of the Y chromosome with age in control
individuals and in patients with age-related macular degeneration using
genotyping microarray data. Hum Genet. 2020 Mar;139(3):401-407. doi:
10.1007/s00439-019-02029-1. Epub 2019 May 27. PMID: 31134332.

26: Caburet S, Todeschini AL, Petrillo C, Martini E, Farran ND, Legois B, Livera
G, Younis JS, Shalev S, Veitia RA. A truncating MEIOB mutation responsible for
familial primary ovarian insufficiency abolishes its interaction with its
partner SPATA22 and their recruitment to DNA double-strand breaks. EBioMedicine.
2019 Apr;42:524-531. doi: 10.1016/j.ebiom.2019.03.075. Epub 2019 Apr 15. PMID:
31000419; PMCID: PMC6491878.

27: Elzaiat M, Herman L, Legois B, Léger T, Todeschini AL, Veitia RA. High-
throughput Exploration of the Network Dependent on AKT1 in Mouse Ovarian
Granulosa Cells. Mol Cell Proteomics. 2019 Jul;18(7):1307-1319. doi:
10.1074/mcp.RA119.0014613. Epub 2019 Apr 16. PMID: 30992313; PMCID: PMC6601207.

28: Birchler JA, Veitia RA. Genomic Balance and Speciation. Epigenet Insights.
2019 Mar 31;12:2516865719840291. doi: 10.1177/2516865719840291. PMID: 30968064;
PMCID: PMC6444768.

29: Veitia RA. Darwinian selection within an individual or somatic selection:
facts and models. J Mol Cell Biol. 2019 Aug 19;11(8):719-722. doi:
10.1093/jmcb/mjz014. PMID: 30806666; PMCID: PMC6788724.

30: Veitia RA. Further quantitative insights into the decrease of heteroplasmy
of m.3243A>G with age in leukocytes. Clin Genet. 2019 Apr;95(4):542-543. doi:
10.1111/cge.13496. Epub 2019 Jan 28. PMID: 30690711.

31: Veitia RA. AFF3: a new player in maintaining XIST monoallelic expression. J
Mol Cell Biol. 2019 Sep 19;11(9):723-724. doi: 10.1093/jmcb/mjy082. PMID:
30629198; PMCID: PMC6821381.

32: Veitia RA. On the loss of human sex chromosomes in lymphocytes with age: a
quantitative treatment. Eur J Hum Genet. 2018 Dec;26(12):1875-1878. doi:
10.1038/s41431-018-0225-0. Epub 2018 Aug 10. PMID: 30097617; PMCID: PMC6244361.

33: Veitia RA. Dosage effects in morphogenetic gradients of transcription
factors: insights from a simple mathematical model. J Genet. 2018
Jun;97(2):365-370. PMID: 29932055.

34: Penrad-Mobayed M, Perrin C, L’Hôte D, Contremoulins V, Lepesant JA, Boizet-
Bonhoure B, Poulat F, Baudin X, Veitia RA. A role for SOX9 in post-
transcriptional processes: insights from the amphibian oocyte. Sci Rep. 2018 May
8;8(1):7191. doi: 10.1038/s41598-018-25356-1. PMID: 29740094; PMCID: PMC5940923.

35: Huhtaniemi I, Hovatta O, La Marca A, Livera G, Monniaux D, Persani L, Heddar
A, Jarzabek K, Laisk-Podar T, Salumets A, Tapanainen JS, Veitia RA, Visser JA,
Wieacker P, Wolczynski S, Misrahi M. Advances in the Molecular Pathophysiology,
Genetics, and Treatment of Primary Ovarian Insufficiency. Trends Endocrinol
Metab. 2018 Jun;29(6):400-419. doi: 10.1016/j.tem.2018.03.010. Epub 2018 Apr 26.
PMID: 29706485.

36: Veitia RA. How the most common mitochondrial DNA mutation (m.3243A>G)
vanishes from leukocytes: a mathematical model. Hum Mol Genet. 2018 May
1;27(9):1565-1571. doi: 10.1093/hmg/ddy063. PMID: 29474538.

37: Bernard V, Villa C, Auguste A, Lamothe S, Guillou A, Martin A, Caburet S,
Young J, Veitia RA, Binart N. Natural and molecular history of prolactinoma:
insights from a <i>Prlr</i><sup>-/-</sup> mouse model. Oncotarget. 2017 Dec
27;9(5):6144-6155. doi: 10.18632/oncotarget.23713. PMID: 29464061; PMCID:

38: Bottani S, Zabet NR, Wendel JF, Veitia RA. Gene Expression Dominance in
Allopolyploids: Hypotheses and Models. Trends Plant Sci. 2018 May;23(5):393-402.
doi: 10.1016/j.tplants.2018.01.002. Epub 2018 Feb 9. PMID: 29433919.

39: Ouimette JF, Rougeulle C, Veitia RA. Three-dimensional genome architecture
in health and disease. Clin Genet. 2019 Feb;95(2):189-198. doi:
10.1111/cge.13219. Epub 2018 Mar 2. PMID: 29377081.

40: Fouquet B, Pawlikowska P, Caburet S, Guigon C, Mäkinen M, Tanner L, Hietala
M, Urbanska K, Bellutti L, Legois B, Bessieres B, Gougeon A, Benachi A, Livera
G, Rosselli F, Veitia RA, Misrahi M. A homozygous <i>FANCM</i> mutation
underlies a familial case of non-syndromic primary ovarian insufficiency. Elife.
2017 Dec 12;6:e30490. doi: 10.7554/eLife.30490. PMID: 29231814; PMCID:

41: Veitia RA. Gene Duplicates: Agents of Fragility? – A Reply to Landry and
Diss. Trends Genet. 2017 Oct;33(10):658-660. doi: 10.1016/j.tig.2017.07.013.
Epub 2017 Aug 17. PMID: 28823576.

42: Veitia RA, Caburet S, Birchler JA. Mechanisms of Mendelian dominance. Clin
Genet. 2018 Mar;93(3):419-428. doi: 10.1111/cge.13107. Epub 2017 Oct 26. PMID:

43: Paris F, Flatters D, Caburet S, Legois B, Servant N, Lefebvre H, Sultan C,
Veitia RA. A novel variant of DHH in a familial case of 46,XY disorder of sex
development: Insights from molecular dynamics simulations. Clin Endocrinol
(Oxf). 2017 Nov;87(5):539-544. doi: 10.1111/cen.13420. Epub 2017 Aug 13. PMID:

44: Carlosama C, Elzaiat M, Patiño LC, Mateus HE, Veitia RA, Laissue P. A
homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary
ovarian insufficiency. Hum Mol Genet. 2017 Aug 15;26(16):3161-3166. doi:
10.1093/hmg/ddx199. PMID: 28541421.

45: Veitia RA. Gene Duplicates: Agents of Robustness or Fragility? Trends Genet.
2017 Jun;33(6):377-379. doi: 10.1016/j.tig.2017.03.006. Epub 2017 Apr 20. PMID:

46: Caburet S, Fruchter RB, Legois B, Fellous M, Shalev S, Veitia RA. A
homozygous mutation of <i>GNRHR</i> in a familial case diagnosed with polycystic
ovary syndrome. Eur J Endocrinol. 2017 May;176(5):K9-K14. doi:
10.1530/EJE-16-0968. PMID: 28348023.

47: Veitia RA, Govindaraju DR, Bottani S, Birchler JA. Aging: Somatic Mutations,
Epigenetic Drift and Gene Dosage Imbalance. Trends Cell Biol. 2017
Apr;27(4):299-310. doi: 10.1016/j.tcb.2016.11.006. Epub 2016 Dec 9. PMID:

48: Veitia RA. A Fresh Look at ‘Aging’ Proteins. Trends Biochem Sci. 2017
Feb;42(2):86-89. doi: 10.1016/j.tibs.2016.11.001. Epub 2016 Nov 14. PMID:

49: Laissue P, Lakhal B, Vatin M, Batista F, Burgio G, Mercier E, Santos ED,
Buffat C, Sierra-Diaz DC, Renault G, Montagutelli X, Salmon J, Monget P, Veitia
RA, Méhats C, Fellous M, Gris JC, Cocquet J, Vaiman D. Association of FOXD1
variants with adverse pregnancy outcomes in mice and humans. Open Biol. 2016
Oct;6(10):160109. doi: 10.1098/rsob.160109. PMID: 27805902; PMCID: PMC5090055.

50: Elzaiat M, Todeschini AL, Caburet S, Veitia RA. The genetic make-up of
ovarian development and function: the focus on the transcription factor FOXL2.
Clin Genet. 2017 Feb;91(2):173-182. doi: 10.1111/cge.12862. Epub 2016 Sep 29.
PMID: 27604691.

51: Bouilly J, Beau I, Barraud S, Bernard V, Azibi K, Fagart J, Fèvre A,
Todeschini AL, Veitia RA, Beldjord C, Delemer B, Dodé C, Young J, Binart N.
Identification of Multiple Gene Mutations Accounts for a new Genetic
Architecture of Primary Ovarian Insufficiency. J Clin Endocrinol Metab. 2016
Dec;101(12):4541-4550. doi: 10.1210/jc.2016-2152. Epub 2016 Sep 7. PMID:

52: Baetens D, Stoop H, Peelman F, Todeschini AL, Rosseel T, Coppieters F,
Veitia RA, Looijenga LH, De Baere E, Cools M. NR5A1 is a novel disease gene for
46,XX testicular and ovotesticular disorders of sex development. Genet Med. 2017
Apr;19(4):367-376. doi: 10.1038/gim.2016.118. Epub 2016 Aug 4. PMID: 27490115;
PMCID: PMC5392598.

53: Bottani S, Veitia RA. Hill function-based models of transcriptional
switches: impact of specific, nonspecific, functional and nonfunctional binding.
Biol Rev Camb Philos Soc. 2017 May;92(2):953-963. doi: 10.1111/brv.12262. Epub
2016 Apr 8. PMID: 27061969.

54: Birchler JA, Johnson AF, Veitia RA. Kinetics genetics: Incorporating the
concept of genomic balance into an understanding of quantitative traits. Plant
Sci. 2016 Apr;245:128-34. doi: 10.1016/j.plantsci.2016.02.002. Epub 2016 Feb 6.
PMID: 26940497.

55: Fauchereau F, Shalev S, Chervinsky E, Beck-Fruchter R, Legois B, Fellous M,
Caburet S, Veitia RA. A non-sense MCM9 mutation in a familial case of primary
ovarian insufficiency. Clin Genet. 2016 May;89(5):603-7. doi: 10.1111/cge.12736.
Epub 2016 Feb 10. PMID: 26771056.

56: Veitia RA. Clinical Genetics in the age of Genomics and Genome editing. Clin
Genet. 2016 Jan;89(1):3-4. doi: 10.1111/cge.12689. PMID: 26768808.

57: Auguste A, Bessière L, Todeschini AL, Caburet S, Sarnacki S, Prat J,
D’angelo E, De La Grange P, Ariste O, Lemoine F, Legois B, Sultan C, Zider A,
Galmiche L, Kalfa N, Veitia RA. Molecular analyses of juvenile granulosa cell
tumors bearing AKT1 mutations provide insights into tumor biology and
therapeutic leads. Hum Mol Genet. 2015 Dec 1;24(23):6687-98. doi:
10.1093/hmg/ddv373. Epub 2015 Sep 11. PMID: 26362254.

58: Coppieters F, Todeschini AL, Fujimaki T, Baert A, De Bruyne M, Van
Cauwenbergh C, Verdin H, Bauwens M, Ongenaert M, Kondo M, Meire F, Murakami A,
Veitia RA, Leroy BP, De Baere E. Hidden Genetic Variation in LCA9-Associated
Congenital Blindness Explained by 5’UTR Mutations and Copy-Number Variations of
NMNAT1. Hum Mutat. 2015 Dec;36(12):1188-96. doi: 10.1002/humu.22899. Epub 2015
Oct 1. PMID: 26316326; PMCID: PMC5054839.

59: Veitia RA, Birchler JA. Models of buffering of dosage imbalances in protein
complexes. Biol Direct. 2015 Aug 15;10:42. doi: 10.1186/s13062-015-0063-8. PMID:
26275824; PMCID: PMC4537584.

60: Bessière L, Todeschini AL, Auguste A, Sarnacki S, Flatters D, Legois B,
Sultan C, Kalfa N, Galmiche L, Veitia RA. A Hot-spot of In-frame Duplications
Activates the Oncoprotein AKT1 in Juvenile Granulosa Cell Tumors. EBioMedicine.
2015 Mar 6;2(5):421-31. doi: 10.1016/j.ebiom.2015.03.002. PMID: 26137586; PMCID:

61: Veitia RA, Potier MC. Gene dosage imbalances: action, reaction, and models.
Trends Biochem Sci. 2015 Jun;40(6):309-17. doi: 10.1016/j.tibs.2015.03.011. Epub
2015 Apr 27. PMID: 25937627.

62: Petitjean M, Badel A, Veitia RA, Vanet A. Synthetic lethals in HIV: ways to
avoid drug resistance : Running title: Preventing HIV resistance. Biol Direct.
2015 Apr 17;10:17. doi: 10.1186/s13062-015-0044-y. PMID: 25888435; PMCID:

63: Caburet S, Anttonen M, Todeschini AL, Unkila-Kallio L, Mestivier D, Butzow
R, Veitia RA. Combined comparative genomic hybridization and transcriptomic
analyses of ovarian granulosa cell tumors point to novel candidate driver genes.
BMC Cancer. 2015 Apr 10;15:251. doi: 10.1186/s12885-015-1283-0. PMID: 25884336;
PMCID: PMC4407711.

64: Caburet S, Vilain É. Mutation de STAG3 – Une nouvelle cause d’insuffisance
ovarienne prématurée [STAG3 in premature ovarian failure]. Med Sci (Paris). 2015
Feb;31(2):129-31. French. doi: 10.1051/medsci/20153102005. Epub 2015 Mar 4.
PMID: 25744256.

65: Veitia RA, Veyrunes F, Bottani S, Birchler JA. X chromosome inactivation and
active X upregulation in therian mammals: facts, questions, and hypotheses. J
Mol Cell Biol. 2015 Feb;7(1):2-11. doi: 10.1093/jmcb/mjv001. Epub 2015 Jan 6.
PMID: 25564545.