Bruno Reversade

Last updated
Bruno REVERSADE
Born1974 (age 48–49)
NationalityFrench
CitizenshipFrench / American
Alma mater University 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
Fields Mendelian Genetics, Developmental biology, Micropeptides, Hormones
Institutions

National University of Singapore

KAUST
Doctoral advisor Edward M. De Robertis
Other academic advisors Davor Solter
Website www.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]

Contents

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:

YearGeneInheritanceMendelian diseasePhenotype MIM number
2009 PYCR1 RecessiveCutis laxa, autosomal recessive, type IIB (wrinkly skin syndrome) [19] [29] 614438
2010 CHSY1 RecessiveTemtamy preaxial brachydactyly syndrome [30] 605282
2011 TGFBR1 DominantMultiple Self-healing Squamous Epithelioma (Fergurson-Smith disease) [31] 132800
2012 IRX5 RecessiveHamamy 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 DominantDominant Cutis laxa type 3 [20] 616603
2016 NLRP1 DominantMultiple self-healing palmoplantar carcinoma [22] [36] 615225
2016 NLRP1 Recessivefamilial keratosis lichenoides chronica (FKLC) [22] [36] 615225
2016 USP9X HeterozygousX-linked syndromic mental retardation 99 [26] 300968
2016 ELMO2 RecessivePrimary intraosseous vascular malformation [37] 606893
2017 ENPP1 RecessiveCole disease [38] 615522
2017 CDK10 RecessiveAl Kaissi syndrome [39] 617694
2017 LGI4 RecessiveNeurogenic Arthrogryposis multiplex congenita with myelin defect [40] 617468
2017 KIAA1109 RecessiveAlkuraya-Kucinskas syndrome [41] 617822
2017 SMCHD1 DominantBosma arhinia microphthalmia syndrome [42] 603457
2018 CAMK2A RecessiveMental 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
2019NLRP1RecessiveCongenital juvenile recurrent respiratory papillomatosis (JRRP) [48] 618803
2020 UGDH RecessiveJamuar Syndrome [49] 603370
2020MTX2RecessiveMandibuloacral dysplasia progeroid syndrome [21] 619127
2020 NUAK2 Recessive Anencephaly 2 [50] 619452
2021C2orf69RecessiveElbracht-Işikay Syndrome [51] 619423
2021WLSRecessiveZaki Syndrome [52] 619648
2021CIROPRecessiveVisceral heterotaxy-12 (HTX12) [53] [54] 619702
2022 DPP9 RecessiveHatipoğlu syndrome [55] 608258
2022FOCADRecessiveSevere Liver congenital disease [56] 619991
2022TMEM147RecessiveNeurodevelopmental disorder with facial dysmorphism & absent language [57] 620075
2023TAPT1RecessiveLethal Osteochondrodysplasia [58] 616897
2023DRG1RecessiveNeurodevelopmental disorder [59] 603952
2023RAF1RecessiveProgeroid 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]

Awards and recognition

Related Research Articles

<span class="mw-page-title-main">Joubert syndrome</span> Medical condition

Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.

<i>Xenopus</i> Genus of amphibians

Xenopus is a genus of highly aquatic frogs native to sub-Saharan Africa. Twenty species are currently described within it. The two best-known species of this genus are Xenopus laevis and Xenopus tropicalis, which are commonly studied as model organisms for developmental biology, cell biology, toxicology, neuroscience and for modelling human disease and birth defects.

<span class="mw-page-title-main">Mosaic (genetics)</span> Condition in multi-cellular organisms

Mosaicism or genetic mosaicism is a condition in which a multicellular organism possesses more than one genetic line as the result of genetic mutation. This means that various genetic lines resulted from a single fertilized egg. Mosaicism is one of several possible causes of chimerism, wherein a single organism is composed of cells with more than one distinct genotype.

<span class="mw-page-title-main">Heritability of autism</span>

The heritability of autism is the proportion of differences in expression of autism that can be explained by genetic variation; if the heritability of a condition is high, then the condition is considered to be primarily genetic. Autism has a strong genetic basis. Although the genetics of autism are complex, autism spectrum disorder (ASD) is explained more by multigene effects than by rare mutations with large effects.

Adams–Oliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium, transverse defects of the limbs, and mottling of the skin.

<span class="mw-page-title-main">Yunis–Varon syndrome</span> Medical condition

Yunis–Varon syndrome (YVS), also called cleidocranial dysplasia with micrognathia or absent thumbs and distal aphalangia, is an extremely rare autosomal recessive multisystem congenital disorder which affects the skeletal system, ectodermal tissue, heart and respiratory system. It was first described by Emilio Yunis and Humberto Váron from the National University of Colombia.

<span class="mw-page-title-main">TCF4</span> Protein-coding gene in the species Homo sapiens

Transcription factor 4 (TCF-4) also known as immunoglobulin transcription factor 2 (ITF-2) is a protein that in humans is encoded by the TCF4 gene located on chromosome 18q21.2.

<i>TBX5</i> (gene) Protein-coding gene that affects limb development and heart and bone function

T-box transcription factor TBX5, is a protein that in humans is encoded by the TBX5 gene. Abnormalities in the TBX5 gene can result in altered limb development, Holt-Oram syndrome, Tetra-amelia syndrome, and cardiac and skeletal problems.

<span class="mw-page-title-main">NLRP1</span> Human protein-coding gene

NLRP1 encodes NACHT, LRR, FIIND, CARD domain and PYD domains-containing protein 1 in humans. NLRP1 was the first protein shown to form an inflammasome. NLRP1 is expressed by a variety of cell types, which are predominantly epithelial or hematopoietic. The expression is also seen within glandular epithelial structures including the lining of the small intestine, stomach, airway epithelia and in hairless or glabrous skin. NLRP1 polymorphisms are associated with skin extra-intestinal manifestations in CD. Its highest expression was detected in human skin, in psoriasis and in vitiligo. Polymorphisms of NLRP1 were found in lupus erythematosus and diabetes type 1. Variants of mouse NLRP1 were found to be activated upon N-terminal cleavage by the protease in anthrax lethal factor.

<span class="mw-page-title-main">PHF6</span> Protein-coding gene in the species Homo sapiens

PHD finger protein 6 is a protein that in humans is encoded by the PHF6 gene.

<span class="mw-page-title-main">DPP9</span> Protein-coding gene in the species Homo sapiens

Dipeptidyl peptidase 9 is an enzyme that in humans is encoded by the DPP9 gene.

<span class="mw-page-title-main">R-spondin 2</span> Protein and coding gene in humans

R-spondin 2 also known as roof plate-specific spondin-2 is a secreted protein that in humans that is encoded by the RSPO2 gene.

<span class="mw-page-title-main">CC2D2A</span> Protein-coding gene in the species Homo sapiens

Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.

<span class="mw-page-title-main">De Barsy syndrome</span> Medical condition

De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa as well as other eye, musculoskeletal, and neurological abnormalities. It is usually progressive, manifesting side effects that can include clouded corneas, cataracts, short stature, dystonia, or progeria.

<span class="mw-page-title-main">PIEZO2</span>

Piezo-type mechanosensitive ion channel component 2 is a protein that in humans is encoded by the PIEZO2 gene. It has a homotrimeric structure, with three blades curving into a nano-dome, with a diameter of 28 nanometers.

T-box transcription factor Tbx4 is a transcription factor that belongs to T-box gene family that is involved in the regulation of embryonic developmental processes. The transcription factor is encoded by the TBX4 gene located on human chromosome 17. Tbx4 is known mostly for its role in the development of the hindlimb, but it also plays a critical role in the formation of the umbilicus. Tbx4 has been shown to be expressed in the allantois, hindlimb, lung and proctodeum.

<span class="mw-page-title-main">Ohad Birk</span> Israeli physician and scientist

Ohad Birk, a physician-scientist, is a professor of human genetics, converging basic scientific research with effective clinical translational applications. Birk's research lab deciphered the molecular basis and mechanism of more than 30 human diseases, including some of the most prevalent severe hereditary diseases in Arabs and in Jews, as well as three syndromes named after Birk. He also implemented his scientific findings in massive carrier testing programs, conducive to 30% reduction in infant mortality rate in the Bedouin community, as well as near-eradication of two of the most common severe hereditary diseases in Sephardic Jews. Birk heads the clinical Genetics Institute at Soroka Medical Center and the Morris Kahn Laboratory of Human Genetics as well as Israel's National Research Center for Orphan / Rare Diseases at Ben Gurion University, and served as director of Israel's National Institute of Biotechnology in the Negev (NIBN) between 2016 and 2017.

<span class="mw-page-title-main">Methyl-cpg binding domain protein 5</span> Protein-coding gene in the species Homo sapiens

Methyl-CpG binding domain protein 5 is a protein that in humans is encoded by the MBD5 gene.

<span class="mw-page-title-main">Chudley–Mccullough syndrome</span> Medical condition

Chudley–Mccullough syndrome is a rare genetic disorder which is characterized by bilateral congenital hearing loss associated with brain malformations. It is a type of syndromic deafness.

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome is a rare genetic disorder which is characterized by multi-systemic symptoms primarily affecting the intellect and post-natal development.

References

  1. 1 2 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. 1 2 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. 1 2 3 4 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. 1 2 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. 1 2 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. 1 2 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. 1 2 3 "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. 1 2 "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. 1 2 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. 1 2 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. 1 2 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. 1 2 3 4 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. 1 2 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. 1 2 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. 1 2 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. 1 2 3 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. 1 2 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. 1 2 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. 1 2 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. 1 2 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. 1 2 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. 1 2 3 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. 1 2 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. 1 2 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. 1 2 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.
This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.