Bruno Reversade

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Bruno REVERSADE
Born1974 (age 49–50)
NationalityFrench
CitizenshipFrench / American
Alma materUniversity of California, Los Angeles[1]
Children>2
AwardsSociety-in-Science, Branco Weiss Fellow (2007), A*STAR Investigator (2008), EMBO Young Investigators (2012), National Research Foundation (2019)
Scientific career
FieldsMendelian Genetics, Developmental biology, Micropeptides, Hormones
Institutions

National University of Singapore

KAUST
Doctoral advisorEdward M. De Robertis
Other academic advisorsDavor Solter
Websitewww.reversade.com

Bruno Reversade (born 1978) is an American human geneticist and developmental biologist . He is a Director of the Institute of Molecular and Cellular Biology and the Genome Institute of Singapore at A*STAR (Singapore) and holds several faculty positions at other universities. Reversade is known for identifying mutated genes that cause Mendelian diseases, for his research on the genetics of identical twins and for the characterizations of novel hormones.[2][3][4]

Early life and education

Bruno Reversade was born in 1974 into a French-American family. He was raised in Grenoble (France) and Washington, D.C. (US). Bruno Reversade studied at the University Joseph Fourier, Pierre and Marie Curie University and UCLA.

Scientific career

Reversade became interested in developmental biology in 1997 when studying at the University of Western Ontario (Canada) under the tutelage of Greg Kelly.[5][6]

He earned his master's degree at the Pasteur Institute (Paris, France), where he studied head development in the mouse embryo.[5][7] He then moved to the United States to work at the HHMI laboratory of Edward M. De Robertis at the University of California, Los Angeles. There he studied the specification of the dorsal-ventral axis during vertebrate development using Xenopus embryos.[8] In 2005, Reversade and De Robertis detailed how multiple extracellular proteins allow embryos that are cut in two to self-regulate consistently.[9][10][11]

In 2006, Reversade earned his PhD from the Pierre and Marie Curie University.[12] In 2008, he received the A*STAR investigatorship (Singapore) award and set up his team in 2008 at the Institute of Medical Biology to carry out human embryology and genetic research.[12][1][13] In 2015, he became a Director at A*STAR.[14] Also in 2015, he received AAA Fellowship from the Vrije Universiteit Amsterdam and was appointed Professor of Human Genetics at the Centre for Reproductive Medicine at the university's Academic Medical Center.[15] Since 2016, Reversade is a Distinguished Professor of Human Genetics at Koç University (Turkey).[16] In 2023, Reversade became a Smart-Health Initiative Director and Professor at KAUST in the Kingdom of Saudi Arabia.

Research areas

Mendelian genetics

Reversade's team works on the genetic characterization and clinical description of inherited conditions in humans.[17][18]

They have identified mutations responsible for progeroid syndromes in humans,[19][20][21] NLRP1 inflammasome-related diseases,[22][23][24] self-healing cancers[25][22] and numerous diseases causing birth defects[26][27][28]

Reversade's group has identified the following genes to be responsible for novel Mendelian diseases:

Year Gene Inheritance Mendelian disease Phenotype MIM number
2009 PYCR1 Recessive Cutis laxa, autosomal recessive, type IIB (wrinkly skin syndrome)[19][29] 614438
2010 CHSY1 Recessive Temtamy preaxial brachydactyly syndrome[30] 605282
2011 TGFBR1 Dominant Multiple Self-healing Squamous Epithelioma (Fergurson-Smith disease)[31] 132800
2012 IRX5 Recessive Hamamy syndrome[32][33] 611174
2012 AAGAB Recessive Punctate palmoplantar keratoderma, type IA[25] 148600
2014 KATNB1 Recessive Lissencephaly with Microcephaly 6[34] 616212
2015 DCPS Recessive Al-Raqad syndrome[35] 616459
2015 ALDH18A1 Dominant Dominant Cutis laxa type 3[20] 616603
2016 NLRP1 Dominant Multiple self-healing palmoplantar carcinoma[22][36] 615225
2016 NLRP1 Recessive familial keratosis lichenoides chronica (FKLC)[22][36] 615225
2016 USP9X Heterozygous X-linked syndromic mental retardation 99[26] 300968
2016 ELMO2 Recessive Primary intraosseous vascular malformation[37] 606893
2017 ENPP1 Recessive Cole disease[38] 615522
2017 CDK10 Recessive Al Kaissi syndrome[39] 617694
2017 LGI4 Recessive Neurogenic Arthrogryposis multiplex congenita with myelin defect[40] 617468
2017 KIAA1109 Recessive Alkuraya-Kucinskas syndrome[41] 617822
2017 SMCHD1 Dominant Bosma arhinia microphthalmia syndrome[42] 603457
2018 CAMK2A Recessive Mental retardation, autosomal recessive 63[43][44] 618095
2018 RSPO2 Recessive Tetraamelia syndrome with pulmonary agenesis[28][45][46] 618021
2019 TBX4 Recessive PAPPA syndrome[47] 601719
2019 NLRP1 Recessive Congenital juvenile recurrent respiratory papillomatosis (JRRP)[48] 618803
2020 UGDH Recessive Jamuar Syndrome[49] 603370
2020 MTX2 Recessive Mandibuloacral dysplasia progeroid syndrome[21] 619127
2020 NUAK2 Recessive Anencephaly 2[50] 619452
2021 C2orf69 Recessive Elbracht-Işikay Syndrome[51] 619423
2021 WLS Recessive Zaki Syndrome[52] 619648
2021 CIROP Recessive Visceral heterotaxy-12 (HTX12)[53][54] 619702
2022 DPP9 Recessive Hatipoğlu syndrome[55] 608258
2022 FOCAD Recessive Severe Liver congenital disease[56] 619991
2022 TMEM147 Recessive Neurodevelopmental disorder with facial dysmorphism & absent language[57] 620075
2023 TAPT1 Recessive Lethal Osteochondrodysplasia[58] 616897
2023 DRG1 Recessive Neurodevelopmental disorder[59] 603952
2023 RAF1 Recessive Progeroid disease [60] 164760

Developmental biology and Twinning

Reversade's investigations in developmental biology have relied on various animal model organisms (C. elegans, Drosophila, zebrafish, Xenopus and transgenic mice) and covered such embryonic processes as neural induction,[8] limb development,[30][28][47] and various human diseases causing birth defects.[42][50][52]

In 2005, during his Ph.D. thesis in the laboratory of Edward De Robertis, the scientists published two discoveries,[9][61] pertaining to the self-regulation of an embryonic morphogenetic field mediated by the extracellular Chordin/BMP/Sizzled pathway.[10] This helped provide a molecular framework for how embryos split in two halves can develop into perfect, albeit smaller, identical twinned embryos.[62]

Reversade also researches the genetics of dizygotic and monozygotic twinning in humans.[63][5][4] He has been searching for genes responsible for monozygotic (MZ) twinning from rare population isolates.[64]

In 2021, together with the VU Amsterdam, his group revealed that MZ twins harbor an epigenetic signature in their somatic tissue even decades after their birth.[65] This stable DNA mark could be employed to retrospectively assess if a person is a MZ twin even if his/her co-twin vanished in utero.[66]

Hormones and Micropeptides

Reversade's research has also pioneered the annotation of novel micropeptides.[67]

  • ELABELA In 2013, he discovered and patented a novel hormone named Elabela (ELA).[67][68] This secreted circulating peptide works as an endogenous ligand for the Apelin receptor (a G protein-coupled receptor).[69][70] The genetic inactivation of ELA leads to cardiovascular defects,[71][72] predisposes to preeclampsia[73][74][75] and is needed for the self-renewal of human embryonic stem cells.[76] Analogues of Elabela have entered clinical trials by Amgen.[77]
  • BRAWNIN In 2020, he participated in the characterization of C12orf73, a protein-coding gene responsible for the making of a 71 amino-acid peptide called BRAWNIN. This small peptide is essential for respiratory chain complex III (CIII) assembly in human cells and zebrafish.[78]
  • C2orf69 In 2021, together with I. Kurth and colleagues,[51][27] his team identified a fatal syndrome caused by the homozygous inactivation of C2orf69. This gene codes for a 385 amino-acid peptide which can be secreted or associated with mitochondria. C2ORF69 possesses homology to esterase/lipase enzymes.[51]

Awards and recognition

References

  1. ^ a b J.P. (2011-01-12). "Out of one, many". The Economist. Singapore. Archived from the original on 2019-12-06. Retrieved 2019-12-06.
  2. ^ Segal, Nancy L. (2017). Twin Mythconceptions: False Beliefs, Fables, and Facts about Twins. Academic Press. p. 54. ISBN 978-0-12-803994-6 – via Google Books.
  3. ^ Appasani, Krishnarao, ed. (2012). Epigenomics: From Chromatin Biology to Therapeutics. Cambridge University Press. p. 16. ISBN 978-1-107-00382-8 – via Google Books.
  4. ^ a b Rosier, Florence (8 July 2014). "Sur la piste d'un gène responsable de la gémellité" [On the trail of a gene responsible for twinning]. Le Monde (in French). Archived from the original on 2014-07-08. Retrieved 2019-12-16.
  5. ^ a b c d Gewin, Virginia (2013-03-21). "Turning point: Bruno Reversade". Nature. 495 (7441): 401. doi:10.1038/nj7441-401a.
  6. ^ Kelly, Gregory M; Reversade, Bruno (1997). "Characterization of a cDNA encoding a novel band 4.1-like protein in zebrafish". Biochemistry and Cell Biology. 75 (5): 623–632. doi:10.1139/o97-078. PMID 9551184.
  7. ^ Zakin, Lise; Reversade, Bruno; Virlon, Bérangère; Rusniok, Christophe; Glaser, Philippe; Elalouf, Jean-Marc; Brûlet, Philippe (2000-12-19). "Gene expression profiles in normal and Otx2−/− early gastrulating mouse embryos". Proceedings of the National Academy of Sciences of the United States of America. 97 (26): 14388–14393. Bibcode:2000PNAS...9714388Z. doi:10.1073/pnas.011513398. PMC 18928. PMID 11114168.
  8. ^ a b Reversade, B.; Kuroda, H.; Lee, H.; Mays, A.; De Robertis, E.M. (2005-06-23). "Depletion of Bmp2, Bmp4, Bmp7 and Spemann organizer signals induces massive brain formation in Xenopus embryos". Development. 132 (15): 3381–92. doi:10.1242/dev.01901. PMC 2278118. PMID 15975940.
  9. ^ a b Reversade, Bruno; De Robertis, E.M. (2005-12-16). "Regulation of ADMP and BMP2/4/7 at Opposite Embryonic Poles Generates a Self-Regulating Morphogenetic Field". Cell. 123 (6): 1147–1160. doi:10.1016/j.cell.2005.08.047. PMC 2292129. PMID 16360041.
  10. ^ a b Keeley, Jim (2005-12-16). "Researchers Discover Remarkable Developmental Pathway". Howard Hughes Medical Institute. Archived from the original on 2017-09-25. Retrieved 2019-12-07.
  11. ^ Martín-Durán, José M.; Vellutini, Bruno C., eds. (2019). Old Questions and Young Approaches to Animal Evolution. Springer Nature. p. 98. ISBN 978-3-030-18201-4. ISSN 2509-6745 – via Google Books.
  12. ^ a b c "Prestigious A*STAR Investigatorship award attracts outstanding young scientists to carry out independent research at A*STAR Research Institutes" (Press release). Agency for Science, Technology and Research. 2008-02-12. Archived from the original on 2019-12-07. Retrieved 2019-12-07.
  13. ^ Zengkung, Feng (2012-11-20). "Genetic studies wins A*Star scientist place in elite group". The Straits Times. p. 8. Archived from the original on 2019-12-07. Retrieved 2019-12-07 – via AsiaOne.
  14. ^ "Bruno Reversade". ResearchGate. Archived from the original on 2019-12-10. Retrieved 2019-12-10.
  15. ^ a b "Vrije Universiteit Amsterdam Annual Report 2015" (PDF). Vrije Universiteit Amsterdam. 2015. p. 56. Archived from the original (PDF) on 2019-12-07. Retrieved 2019-12-07.
  16. ^ "Akademik Kadro" [Academic staff] (in Turkish). Koç University. Archived from the original on 2019-12-10. Retrieved 2019-12-10.
  17. ^ Cheong, Kash (2015-09-18). "Tracking mutated genes that wreak havoc". The Straits Times. Archived from the original on 2015-09-19. Retrieved 2019-12-10.
  18. ^ Chng, Leonard (2015-10-29). "Asia's Scientific Trailblazers: Bruno Reversade". Asian Scientist. Archived from the original on 2015-10-30. Retrieved 2019-12-10.
  19. ^ a b Reversade, B.; Escande-Beillard, N.; Dimopoulou, A.; et al. (2009-08-02). "Mutations in PYCR1 cause cutis laxa with progeroid features". Nature Genetics. 41 (9): 1016–1021. doi:10.1038/ng.413. PMID 19648921. S2CID 10221927.
  20. ^ a b Fischer-Zirnsak, Björn; Escande-Beillard, Nathalie; Ganesh, Jaya; Callewaert, Bert; et al. (2015-09-03). "Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa". American Journal of Human Genetics. 97 (3): 483–492. doi:10.1016/j.ajhg.2015.08.001. PMC 4564990. PMID 26320891.
  21. ^ a b Elouej, Sahar; Harhouri, Karim; Mao, Morgane Le; Baujat, Genevieve; Nampoothiri, Sheela; Kayserili, Hϋlya; Menabawy, Nihal Al; Selim, Laila; Paneque, Arianne Llamos; Kubisch, Christian; Lessel, Davor (2020-10-19). "Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology". Nature Communications. 11 (1): 5349. doi:10.1038/s41467-020-19290-y. ISSN 2041-1723. PMC 7572408. PMID 33077719.
  22. ^ a b c d Zhong, Franklin L.; Mamaï, Ons; Sborgi, Lorenzo; Saad, Ali; et al. (2016-09-22). "Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation". Cell. 167 (1): 187–202.E17. doi:10.1016/j.cell.2016.09.001. PMID 27662089.
  23. ^ Zhonga, Franklin L.; Robinson, Kim; Teo, Daniel Eng Thiam; et al. (2018-10-05). "Human DPP9 represses NLRP1 inflammasome and protects against autoinflammatory diseases via both peptidase activity and FIIND domain binding". Journal of Biological Chemistry. 293 (49): 18864–18878. doi:10.1074/jbc.RA118.004350. PMC 6295727. PMID 30291141.
  24. ^ Harapas, Cassandra R.; Robinson, Kim S.; Lay, Kenneth; Wong, Jasmine; Traspas, Ricardo Moreno; Nabavizadeh, Nasrin; Raas-Rothschild, Annick; Boisson, Bertrand; Drutman, Scott B.; Laohamonthonkul, Pawat; Bonner, Devon (2021-06-09). "DPP9 deficiency: an Inflammasomopathy which can be rescued by lowering NLRP1/IL-1 signaling". medRxiv 10.1101/2021.01.31.21250067v2.
  25. ^ a b Pohler, Elizabeth; Mamai, Ons; Hirst, Jennifer; et al. (2012-10-14). "Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma". Nature Genetics. 44 (11): 1272–1276. doi:10.1038/ng.2444. PMC 3836166. PMID 23064416.
  26. ^ a b Reijnders, Margot R.F.; Zachariadis, Vasilios; Latour, Brooke; et al. (2016-02-04). "De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations". American Journal of Human Genetics. 98 (2): 373–381. doi:10.1016/j.ajhg.2015.12.015. PMC 4746365. PMID 26833328.
  27. ^ a b Lausberg, Eva; Gießelmann, Sebastian; Dewulf, Joseph P.; Wiame, Elsa; Holz, Anja; Salvarinova, Ramona; van Karnebeek, Clara D.; Klemm, Patricia; Ohl, Kim; Mull, Michael; Braunschweig, Till (2021-06-15). "C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation". The Journal of Clinical Investigation. 131 (12). doi:10.1172/JCI143078. ISSN 1558-8238. PMC 8203463. PMID 33945503.
  28. ^ a b c Szenker-Ravi, Emmanuelle; Altunoglu, Umut; Leushacke, Marc; et al. (2018-05-16). "RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6". Nature. 557 (7706): 564–569. Bibcode:2018Natur.557..564S. doi:10.1038/s41586-018-0118-y. PMID 29769720. S2CID 21712936.
  29. ^ "Scoperta la proteina che contrasta l'invecchiamento precoce della pelle" [The protein that counteracts premature aging of the skin is discovered]. la Repubblica (in Italian). 2009-09-05. Archived from the original on 2011-02-09. Retrieved 2019-12-16.
  30. ^ a b Tian, J.; Jing, L.; Shboul, M.; et al. (2010-12-10). "Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling". American Journal of Human Genetics. 87 (6): 768–78. doi:10.1016/j.ajhg.2010.11.005. PMC 2997365. PMID 21129727.
  31. ^ Goudie, D.R.; Merriman, B.; Lee, B.; et al. (2011-02-27). "Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1". Nature Genetics. 43 (4): 365–9. doi:10.1038/ng.780. PMID 21358634. S2CID 24580576.
  32. ^ Bonnard, Carine; Strobl, Anna C; Shboul, Mohammad; et al. (2012-05-13). "Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1". Nature Genetics. 13 (44): 709–713. doi:10.1038/ng.2259. PMID 22581230. S2CID 5535474.
  33. ^ Goldwert, Lindsay (2012-05-15). "Rare Hamamy syndrome offers genetic insight into what causes heart disease, blood disorders". New York Daily News. Archived from the original on 2017-10-12. Retrieved 2019-12-14.
  34. ^ Hu, Wen F.; Pomp, Oz; Ben-Omran, Tawfeg; et al. (2014-12-17). "Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number". Neuron. 84 (6): 1240–1257. doi:10.1016/j.neuron.2014.12.017. PMC 4485387. PMID 25521379.
  35. ^ Ng, Calista K.L.; Shboul, Mohammad; Taverniti, Valerio; et al. (2015-06-01). "Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects". Human Molecular Genetics. 24 (11): 3163–3171. doi:10.1093/hmg/ddv067. PMC 4424953. PMID 25712129.
  36. ^ a b Boh, Samantha (2016-11-02). "Singapore team sheds light on what causes skin cancer". The Straits Times. Archived from the original on 2016-11-02. Retrieved 2019-12-15.
  37. ^ Cetinkaya, Arda; Xiong, Jingwei Rachel; Vargel, İbrahim; et al. (2016-08-04). "Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling". American Journal of Human Genetics. 99 (2): 299–317. doi:10.1016/j.ajhg.2016.06.008. PMC 4974086. PMID 27476657.
  38. ^ Chourabi, Marwa; Liew, Mei Shan; Lim, Shawn; et al. (2018-01-08). "ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis". Journal of Investigative Dermatology. 138 (2): 291–300. doi:10.1016/j.jid.2017.08.045. PMID 28964717.
  39. ^ Windpassinger, Christian; Piard, Juliette; Bonnard, Carine; et al. (2017-09-07). "CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays". American Journal of Human Genetics. 101 (3): 391–403. doi:10.1016/j.ajhg.2017.08.003. PMC 5591019. PMID 28886341.
  40. ^ Xue, Shifeng; Maluenda, Jérôme; Marguet, Florent; et al. (2017-04-06). "Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita". American Journal of Human Genetics. 100 (4): 659–665. doi:10.1016/j.ajhg.2017.02.006. PMC 5384038. PMID 28318499.
  41. ^ Gueneau, Lucie; Fish, Richard J.; Shamseldin, Hanan E.; et al. (2018-01-04). "KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis". American Journal of Human Genetics. 102 (1): 116–132. doi:10.1016/j.ajhg.2017.12.002. PMC 5777449. PMID 29290337.
  42. ^ a b Gordon, Christopher T; Xue, Shifeng; Yigit, Gökhan; et al. (2017-01-09). "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development" (PDF). Nature Genetics. 49 (2): 249–255. doi:10.1038/ng.3765. PMID 28067911. S2CID 205353193.
  43. ^ Chia, Poh Hui; Zhong, Franklin Lei; Niwa, Shinsuke; et al. (2018-05-22). "A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability". eLife. 7. doi:10.7554/eLife.32451. PMC 5963920. PMID 29784083.
  44. ^ Maynard, Christopher (2018-05-23). "Researchers identify a new neurodevelopmental disease". ConsumerAffairs. Archived from the original on 2018-05-24. Retrieved 2019-12-15.
  45. ^ Voormolen, Sander (2018-05-17). "Geboren zonder armen en benen – nu weten we hoe dat komt" [Born without arms and legs - now we know why]. NRC Handelsblad (in Dutch). Archived from the original on 2019-12-15. Retrieved 2019-12-15.
  46. ^ Ersan, Mesude (2018-06-11). "Kopan kol ve bacak yeniden çıkabilir... Türk bilim kadınının büyük başarısı" [The broken arm and leg can come out again ... The great success of the Turkish scientist]. Hürriyet (in Turkish). Archived from the original on 2018-11-12. Retrieved 2019-12-15.
  47. ^ a b Kariminejad, Ariana; Szenker-Ravi, Emmanuelle; Lekszas, Caroline; et al. (2019-12-05). "Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia". American Journal of Human Genetics. 105 (6): 1294–1301. doi:10.1016/j.ajhg.2019.10.013. PMC 6904794. PMID 31761294.
  48. ^ Drutman, Scott B.; Haerynck, Filomeen; Zhong, Franklin L.; Hum, David; Hernandez, Nicholas J.; Belkaya, Serkan; Rapaport, Franck; de Jong, Sarah Jill; Creytens, David; Tavernier, Simon J.; Bonte, Katrien; De Schepper, Sofie; van der Werff Ten Bosch, Jutte; Lorenzo-Diaz, Lazaro; Wullaert, Andy (2019-09-17). "Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis". Proceedings of the National Academy of Sciences of the United States of America. 116 (38): 19055–19063. Bibcode:2019PNAS..11619055D. doi:10.1073/pnas.1906184116. ISSN 1091-6490. PMC 6754618. PMID 31484767.
  49. ^ Hengel, Holger; Bosso-Lefèvre, Célia; Grady, George; Szenker-Ravi, Emmanuelle; Li, Hankun; Pierce, Sarah; et al. (January 30, 2020). "Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy". Nature Communications. 11 (1): 595. Bibcode:2020NatCo..11..595H. doi:10.1038/s41467-020-14360-7. PMC 6992768. PMID 32001716.
  50. ^ a b Bonnard, Carine; Navaratnam, Naveenan; Ghosh, Kakaly; Chan, Puck Wee; Tan, Thong Teck; Pomp, Oz; Ng, Alvin Yu Jin; Tohari, Sumanty; Changede, Rishita; Carling, David; Venkatesh, Byrappa (2020-12-07). "A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling". The Journal of Experimental Medicine. 217 (12). doi:10.1084/jem.20191561. ISSN 1540-9538. PMC 7953732. PMID 32845958.
  51. ^ a b c Wong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y. T.; Chia, Crystal Y.; Teoh, Tze Shin (2021-05-21). "Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy". American Journal of Human Genetics. 108 (7): 1301–1317. doi:10.1016/j.ajhg.2021.05.003. ISSN 1537-6605. PMC 8322802. PMID 34038740.
  52. ^ a b Chai, Guoliang; Szenker-Ravi, Emmanuelle; Chung, Changuk; Li, Zhen; Wang, Lu; Khatoo, Muznah; Marshall, Trevor; Jiang, Nan; Yang, Xiaoxu; McEvoy-Venneri, Jennifer; Stanley, Valentina (2021-09-30). "A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion". The New England Journal of Medicine. 385 (14): 1292–1301. doi:10.1056/NEJMoa2033911. ISSN 1533-4406. PMC 9017221. PMID 34587386. S2CID 238230084.
  53. ^ "Entry - #619702 - HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 - OMIM". www.omim.org. Retrieved 2023-09-16.
  54. ^ Szenker-Ravi, Emmanuelle; Ott, Tim; Khatoo, Muznah; Moreau de Bellaing, Anne; Goh, Wei Xuan; Chong, Yan Ling; Beckers, Anja; Kannesan, Darshini; Louvel, Guillaume; Anujan, Priyanka; Ravi, Vydianathan; Bonnard, Carine; Moutton, Sébastien; Schoen, Patric; Fradin, Mélanie (January 2022). "Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates". Nature Genetics. 54 (1): 62–72. doi:10.1038/s41588-021-00970-4. ISSN 1546-1718. PMID 34903892. S2CID 245171772.
  55. ^ Harapas, Cassandra R.; Robinson, Kim S.; Lay, Kenneth; Wong, Jasmine; Moreno Traspas, Ricardo; Nabavizadeh, Nasrin; Rass-Rothschild, Annick; Boisson, Bertrand; Drutman, Scott B.; Laohamonthonkul, Pawat; Bonner, Devon; Xiong, Jingwei Rachel; Gorrell, Mark D.; Davidson, Sophia; Yu, Chien-Hsiung (2022-09-16). "DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling". Science Immunology. 7 (75): eabi4611. doi:10.1126/sciimmunol.abi4611. ISSN 2470-9468. PMC 9844213. PMID 36112693.
  56. ^ Moreno Traspas, Ricardo; Teoh, Tze Shin; Wong, Pui-Mun; Maier, Michael; Chia, Crystal Y.; Lay, Kenneth; Ali, Nur Ain; Larson, Austin; Al Mutairi, Fuad; Al-Sannaa, Nouriya Abbas; Faqeih, Eissa Ali; Alfadhel, Majid; Cheema, Huma Arshad; Dupont, Juliette; Bézieau, Stéphane (August 2022). "Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis". Nature Genetics. 54 (8): 1214–1226. doi:10.1038/s41588-022-01120-0. hdl:10754/679809. ISSN 1546-1718. PMID 35864190. S2CID 250954453.
  57. ^ Thomas, Quentin; Motta, Marialetizia; Gautier, Thierry; Zaki, Maha S.; Ciolfi, Andrea; Paccaud, Julien; Girodon, François; Boespflug-Tanguy, Odile; Besnard, Thomas; Kerkhof, Jennifer; McConkey, Haley; Masson, Aymeric; Denommé-Pichon, Anne-Sophie; Cogné, Benjamin; Trochu, Eva (2022-10-06). "Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly". American Journal of Human Genetics. 109 (10): 1909–1922. doi:10.1016/j.ajhg.2022.08.008. ISSN 1537-6605. PMC 9606387. PMID 36044892.
  58. ^ Nabavizadeh, Nasrinsadat; Bressin, Annkatrin; Shboul, Mohammad; Moreno Traspas, Ricardo; Chia, Poh Hui; Bonnard, Carine; Szenker-Ravi, Emmanuelle; Sarıbaş, Burak; Beillard, Emmanuel; Altunoglu, Umut; Hojati, Zohreh; Drutman, Scott; Freier, Susanne; El-Khateeb, Mohammad; Fathallah, Rajaa (2023-02-08). "A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing". EMBO Molecular Medicine. 15 (2): e16478. doi:10.15252/emmm.202216478. ISSN 1757-4684. PMC 9906387. PMID 36652330.
  59. ^ Westrip, Christian A. E.; Paul, Franziska; Al-Murshedi, Fathiya; Qaitoon, Hashim; Cham, Breana; Fletcher, Sally C.; Hendrix, Eline; Boora, Uncaar; Ng, Alvin Yu Jin; Bonnard, Carine; Najafi, Maryam; Alawbathani, Salem; Lambert, Imelda; Fox, Gabriel; Venkatesh, Byrappa (2022-09-23). "Inactivation of DRG1, encoding a translation factor GTPase, causes a Recessive Neurodevelopmental Disorder". medRxiv 10.1101/2022.09.20.22279914v1.
  60. ^ Wong, Samantha; Tan, Yu Xuan; Tan, Kiat Yi; Loh, Abigail; Aziz, Zainab; Özkan, Engin; Kayserili, Hülya; Escande-Beillard, Nathalie; Reversade, Bruno (2022-03-04). "A Progeroid Syndrome Caused by RAF1 deficiency Underscores the importance of RTK signaling for Human Development". medRxiv 10.1101/2022.02.20.22271260.
  61. ^ Lee, Hojoon X.; Ambrosio, Andrea L.; Reversade, Bruno; De Robertis, E.M. (2006-01-13). "Embryonic Dorsal-Ventral Signaling: Secreted Frizzled-Related Proteins as Inhibitors of Tolloid Proteinases". Cell. 124 (1): 147–159. doi:10.1016/j.cell.2005.12.018. PMC 2486255. PMID 16413488.
  62. ^ Kimelman, David; Pyati, Ujwal J. (2005-12-16). "Bmp Signaling: Turning a Half into a Whole". Cell. 123 (6): 982–984. doi:10.1016/j.cell.2005.11.028. PMID 16360027. S2CID 14376376.
  63. ^ Mbarek, Hamdi; Steinberg, Stacy; Nyholt, Dale R.; et al. (2016-05-05). "Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility". American Journal of Human Genetics. 98 (5): 898–908. doi:10.1016/j.ajhg.2016.03.008. PMC 4863559. PMID 27132594.
  64. ^ a b Cyranoski, David (2009-04-15). "Developmental biology: Two by two". Nature. 458 (7240): 826–829. doi:10.1038/458826a. PMID 19370006.
  65. ^ van Dongen, Jenny; Gordon, Scott D.; McRae, Allan F.; Odintsova, Veronika V.; Mbarek, Hamdi; Breeze, Charles E.; Sugden, Karen; Lundgren, Sara; Castillo-Fernandez, Juan E.; Hannon, Eilis; Moffitt, Terrie E. (2021-09-28). "Identical twins carry a persistent epigenetic signature of early genome programming". Nature Communications. 12 (1): 5618. Bibcode:2021NatCo..12.5618V. doi:10.1038/s41467-021-25583-7. ISSN 2041-1723. PMC 8479069. PMID 34584077.
  66. ^ "NewScientist". DNA markers reveal if you shared a womb with twin that didn't survive.
  67. ^ a b Chng, Serene C.; Ho, Lena; Tian, Jing; Reversade, Bruno (2013-12-23). "ELABELA: a hormone essential for heart development signals via the apelin receptor". Developmental Cell. 27 (6): 672–680. doi:10.1016/j.devcel.2013.11.002. PMID 24316148.
  68. ^ US 9309314, Reversade, Bruno, "Polypeptides, nucleic acids and uses thereof", published 2016-04-12, assigned to A*STAR 
  69. ^ Murza, Alexandre; Sainsily, Xavier; Coquerel, David; et al. (2016-03-17). "Discovery and Structure–Activity Relationship of a Bioactive Fragment of ELABELA that Modulates Vascular and Cardiac Functions". Journal of Medicinal Chemistry. 59 (7): 2962–2972. doi:10.1021/acs.jmedchem.5b01549. PMID 26986036.
  70. ^ Read, Cai; Nyimanu, Duuamene; Williams, Thomas L.; et al. (October 2019). "International Union of Basic and Clinical Pharmacology. CVII. Structure and Pharmacology of the Apelin Receptor with a Recommendation that Elabela/Toddler Is a Second Endogenous Peptide Ligand". Pharmacological Reviews. 71 (4): 467–502. doi:10.1124/pr.119.017533. PMC 6731456. PMID 31492821.
  71. ^ Helker, Christian SM; Schuermann, Annika; Pollmann, Cathrin; Chng, Serene C; Kiefer, Friedemann; Reversade, Bruno; Herzog, Wiebke (2015-05-27). "The hormonal peptide Elabela guides angioblasts to the midline during vasculogenesis". eLife. 27 (4). doi:10.7554/eLife.06726. PMC 4468421. PMID 26017639.
  72. ^ Sharma, Bikram; Ho, Lena; Ford, Gretchen; et al. (2017-09-25). "Alternative Progenitor Cells Compensate to Rebuild the Coronary Vasculature in Elabela- and Apj-Deficient Hearts". Developmental Cell. 42 (6): 655–666.E3. doi:10.1016/j.devcel.2017.08.008. PMC 5895086. PMID 28890073.
  73. ^ Ho, Lena; van Dijk, Marie; Chye, Sam Tan Jian; Messerschmidt, Daniel M.; et al. (2017-08-18). "ELABELA deficiency promotes preeclampsia and cardiovascular malformations in mice". Science. 357 (6352): 707–713. Bibcode:2017Sci...357..707H. doi:10.1126/science.aam6607. PMID 28663440.
  74. ^ Hassan, Sonia S; Gomez-Lopez, Nardhy (2019-07-06). "Reducing maternal mortality: can elabela help in this fight?". The Lancet. 394 (10192): 8–9. doi:10.1016/S0140-6736(19)30543-4. PMID 31282362. S2CID 195829649.
  75. ^ Williams, Ruth (2017-06-29). "Anti-Preeclampsia Hormone Discovered". The Scientist. Archived from the original on 2019-12-14. Retrieved 2019-12-14.
  76. ^ Ho, Lena; Tan, Shawn Y.X.; Wee, Sheena; et al. (2015-10-01). "ELABELA Is an Endogenous Growth Factor that Sustains hESC Self-Renewal via the PI3K/AKT Pathway". Cell Stem Cell. 17 (4): 435–447. doi:10.1016/j.stem.2015.08.010. PMID 26387754.
  77. ^ Ason, Brandon; Chen, Yinhong; Guo, Qi; Hoagland, Kimberly M.; Chui, Ray W.; Fielden, Mark; Sutherland, Weston; Chen, Rhonda; Zhang, Ying; Mihardja, Shirley; Ma, Xiaochuan (2020-04-23). "Cardiovascular response to small-molecule APJ activation". JCI Insight. 5 (8). doi:10.1172/jci.insight.132898. ISSN 2379-3708. PMC 7205427. PMID 32208384.
  78. ^ Zhang, Shan; Reljić, Boris; Liang, Chao; Kerouanton, Baptiste; Francisco, Joel Celio; Peh, Jih Hou; Mary, Camille; Jagannathan, Narendra Suhas; Olexiouk, Volodimir; Tang, Claire; Fidelito, Gio (2020-03-11). "Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assembly". Nature Communications. 11 (1): 1312. Bibcode:2020NatCo..11.1312Z. doi:10.1038/s41467-020-14999-2. ISSN 2041-1723. PMC 7066179. PMID 32161263.
  79. ^ "5 Jahre Stipendium "Society in Science"" [5 years of fellowship "Society in Science":Rich Harvest] (in German). ETH Zurich. 2009-02-23. Archived from the original on 2019-12-06. Retrieved 2019-12-06.
  80. ^ "22 young group leaders recognized as EMBO Young Investigators" (Press release). Heidelberg: European Molecular Biology Organization. 2012-11-14. Archived from the original on 2018-10-29. Retrieved 2019-12-06.
  81. ^ "Awarded NRF Investigators" (PDF). Government of Singapore. 2018. Archived from the original (PDF) on 2019-12-07. Retrieved 2019-12-07.

External links

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