Publications in 2022

Agostino M, McKenzie F, Buck C, Woodward KJ, Atkinson VJ, Azmanov DN, Heng JI. Studying Disease-Associated UBE3A Missense Variants Using Enhanced Sampling Molecular Simulations. ACS Omega. 2022 Jul 11;7(29):25039-25045. doi: 10.1021/acsomega.2c00959. eCollection 2022 Jul 26. PMID: 35910155

`

Poulton C, Baynam G, Pugh K, Mason M, Kiraly-Borri C, Gration D, Dreyer L, Viti L, Agostino M, Heng JI. Further evidence for distinct traits associated with RBM10 missense variants. Clin Genet. 2022 Aug;102(2):161-163. doi: 10.1111/cge.14163. Epub 2022 May 29. PMID: 35645043

`

Heng JI, Viti L, Pugh K, Marshall OJ, Agostino M. Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease. J Neurochem. 2022 May;161(3):219-235. doi: 10.1111/jnc.15572. Epub 2022 Feb 18. PMID: 35083747

`

Publications in 2021

Kerloch T, Farrugia F, Bouit L, Maître M, Terral G, Koehl M, Mortessagne P, Heng JI, Blanchard M, Doat H, Leste-Lasserre T, Goron A, Gonzales D, Perrais D, Guillemot F, Abrous DN, Pacary E. The atypical Rho GTPase Rnd2 is critical for dentate granule neuron development and anxiety-like behavior during adult but not neonatal neurogenesis. Mol Psychiatry. 2021 Dec;26(12):7280-7295. doi: 10.1038/s41380-021-01301-z. Epub 2021 Sep 24. PMID: 34561615

`

Vacher M, Porter T, Millicic L, Dore V, Bourgeat P, Villemagne VLL, Doecke JD, Laws SM, Heng JI-T. Identification of neurodevelopmental gene variants implicated in age‐related brain morphological changes and cortical atrophy. Alzheimer’s & Dementia. 2021;17:e0551974. doi:10.1002/alz.051974

`

Afrasiabi A, Keane JT, Heng JI, Palmer EE, Lovell NH, Alinejad-Rokny H. Quantitative neurogenetics: applications in understanding disease. Biochem Soc Trans. 2021 Aug 27;49(4):1621-1631. doi: 10.1042/BST20200732. PMID: 34282824

`

Blake S, Hemming I, Heng JI, Agostino M. Structure-Based Approaches to Classify the Functional Impact of ZBTB18 Missense Variants in Health and Disease. ACS Chem Neurosci. 2021 Mar 17;12(6):979-989. doi: 10.1021/acschemneuro.0c00758. Epub 2021 Feb 23. PMID: 33621064

`

Publications in 2020

Alinejad-Rokny H, Heng JIT, Forrest ARR. Brain-Enriched Coding and Long Non-coding RNA Genes Are Overrepresented in Recurrent Neurodevelopmental Disorder CNVs. Cell Rep. 2020 Oct 27;33(4):108307. doi: 10.1016/j.celrep.2020.108307. PMID: 33113368

`

Hemming IA, Blake S, Agostino M, Heng JI. General population ZBTB18 missense variants influence DNA binding and transcriptional regulation. Hum Mut, 2020 Jun 29. doi: 10.1002/humu.24069. PMID: 32598555

`

Asgari Y, Heng JI, Lovell N, Forrest AA, Alinejad-Rokny H. Evidence for enhancer noncoding RNAs (enhancer-ncRNAs) with gene regulatory functions relevant to neurodevelopmental disorders. bioRxiv, 87395. doi.org/10.1101/2020.05.16.087395

`

Publications in 2019

Alinejad-Rokny, H, Heng. JI, Forrest, ARR Brain-enriched coding and long non-coding RNA genes are overrepresented in recurrent autism spectrum disorder CNVs. bioRxiv, 539817. doi.org/10.1101/539817.

Hemming, IA, Clement, O, Gladwyn-Ng, I, et al and Agostino, M and Heng, JI. Disease-associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortex. Hum Mut, 2019 May 21. doi: 10.1002/humu.23803 PMID: 31112317

Woodward K, Stampalia J, Vanyai H, et al. Atypical nested 22q11.2 duplications between LCR22B-D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance. Mol Genet Genomic Med. 2019 Feb;7(2):e00507. doi: 10.1002/mgg3.507. Epub 2019 Jan 4. PMID: 30614210

Publications in 2018

Rowlands J, Heng J, Newsholme P, Carlessi R. Pleiotropic Effects of GLP-1 and Analogs on Cell Signaling, Metabolism, and Function. Front Endocrinol (Lausanne). 2018 Nov 23;9:672. doi: 10.3389/fendo.2018.00672. PMID: 30532733

Harris L, Zalucki O, Clément O, Fraser J, Matuzelski E, Oishi S, Harvey TJ, Burne THJ, Heng JI, Gronostajski RM, Piper M. Neurogenic differentiation by hippocampal neural stem and progenitor cells is biased by NFIX expression. Development. 2018 Feb 7;145(3). pii: dev155689. doi: 10.1242/dev.155689. PMID: 29437824

Poulton C, Baynam G, Yates C, Alinejad-Rokny H, Williams S, Wright H, Woodward KJ, Sivamoorthy S, Peverall J, Shipman P, Ravine D, Beilby J, Heng JI. Mol Genet Genomic Med. 2018 Jan;6(1):92-98. doi: 10.1002/mgg3.351. Epub 2017 Dec 9. PMID: 29222831

Publications in 2017

Clément OG, Hemming IA, Gladwyn-Ng IE, Qu Z, Li SS, Piper M, and Heng JI. Rp58 and p27kip1 coordinate cell cycle exit and neuronal migration within the embryonic mouse cerebral cortex. Neural Development. 2017. May 15;12(1):8. doi: 10.1186/s13064-017-0084-3. PMID: 28506232

Publications in 2016

Harris L, Zalucki O, Gobius O, Osinski J, Harvey T, Essebier A, Vidovic D, Gladwyn-Ng IE, McDonald H, Burne T, Heng JI, Richards LJ, Gronostajski R, and Piper M. Transcriptional regulation of intermediate progenitor cell generation during hippocampal development. Development. 2016. Dec 15;143(24):4620-4630. PMID: 27965439

Edvardson S, Tian G, Cullen H, Vanyai H, Ngo L, Bhat S, Aran A, Daana M, Da’amseh N, Abu-Libdeh B, Cowan NJ*, Heng J*, Elpeleg O*. Infantile Neurodegenerative Disorder Associated with Mutations in TBCD, an Essential Gene in the Tubulin Heterodimer Assembly Pathway. Human Molecular Genetics. 2016. Nov 1;25(21):4635-4648. doi: 10.1093/hmg/ddw292 (*co-corresponding authors) PMID: 28158450

Tiulpakov A, White CW, Abhayawardana RS, See HB, Chan AS, Seeber RM, Heng JI, Dedov I, Pavlos NJ, Pfleger KD. Mutations of Vasopressin Receptor 2 Including Novel L312S Have Differential Effects on Trafficking. Molecular Endocrinology. 2016. Aug;30(8):889-904. doi: 10.1210/me.2016-1002. PMID: 27355191

Li SS, Qu Z, Haas M, Ngo L, Heo YJ, Kang HJ, Britto JM, Cullen HD, Vanyai HK, Tan SS, Chan-Ling T, Gunnersen JM, Heng JI. The HSA21 gene EURL/C21ORF91 controls neurogenesis within the cerebral cortex and is implicated in the pathogenesis of Down Syndrome. Scientific Reports. Jul 11;6:29514. doi: 10.1038/srep29514. PMID: 27404227

Haas MA, Ngo L, Li SS, Schleich S, Qu Z, Vanyai HK, Cullen HD, Cardona-Alberich A, Gladwyn-Ng IE, Pagnamenta AT, Taylor JC, Stewart H, Kini U, Duncan KE, Teleman AA, Keays DA, Heng JI. De novo mutations in DENR disrupt neuronal development and link congenital neurological disorders to defective mRNA translation re-initiation. Cell Reports. 2016, Jun 7;15(10):2251-65. doi: 10.1016/j.celrep.2016.04.090. PMID: 27239039

Berkowicz SR, Featherby TJ, Qu Z, Giousoh A, Borg NA, Heng JI, Whisstock JC, Bird PI. Brinp1-/- mice exhibit autism-like behaviour, altered memory, hyperactivity, and increased Parvalbumin-positive cortical interneuron density. Molecular Autism. 2016, Mar 31;7:22. doi: 10.1186/s13229-016-0079-7. PMID: 27042284

Gladwyn-Ng, IE, Huang, L, Ngo L, Li SS, Qu Z, Vanyai HK, Cullen HD, Davis JM, Heng JI. Bacurd1/Kctd13 and Bacurd2/Tnfaip1 are interacting partners to Rnd proteins which influence the long-term positioning and dendritic maturation of cerebral cortical neurons. Neural Development. 2016, 11:7 doi: 10.1186/s13064-016-0062-1. PMID: 26969432

Hemming IA, Forrest AR, Shipman P, Woodward KJ, Walsh P, Ravine DG, Heng JI. Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature. American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 2016 Feb 7. doi: 10.1002/ajmg.b.32427. PMID: 26853090

Sim J, Scerri T, Fanjul Fernandez M, Risely J, Gillies G, Pope K, van Roozendaal H, Heng J, Mandelstam S, McGillivray G, McGregor D, Kannan L, Maixner W, Harvey SA, Amor D, Delatycki M, Crino P., Bahlo M., Lockhart P., Leventer R. Familial cortical dysplasia caused by mutation in the mTOR regulator NPRL3. Annals of Neurology. 2016 Jan;79(1):132-7. doi: 10.1002/ana.24502. Epub 2015 Dec 12. PMID: 26285051

Publications in 2015

Xu X-J, Jaehne EJ, Greenberg Z, McCarthy P, Saleh E, Parish CL, Heng JI, Haas M, Baune BT, Ratnayke U, Buuse M, Lopez AF, Ramshaw HS, Schwarz Q. Deficiency of 14-3-3ζ causes behavioural and anatomical defects associated with neurodevelopmental disorders. Scientific Reports. 2015 Jul 24;5:12434. doi: 10.1038/srep12434. PMID: 26207352

Gladwyn-Ng L, Li SS, Qu Z, Davis JM, Ngo L, Haas MA, Singer JD, Heng JI. Bacurd2 is a novel interacting partner to Rnd2 which controls radial migration within the developing mammalian cerebral cortex. Neural Development. 2015 Mar 31;10:9. doi: 10.1186/s13064-015-0032-z. Manuscript is deemed “Highly Accessed”. PMID: 25888806

Publications in 2014

Ngo L, Haas M, Qu Z, Li SS, Zenker J, Teng KS-L, Gunnersen JM, Breuss M, Habgood M, Keays DA, Heng JI*. TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons. Human Molecular Genetics. 2014 Oct 1;23(19):5147-58. doi: 10.1093/hmg/ddu238. (*denotes corresponding author) PMID: 24833723

Publications in 2013

Heng JI*, Qu Z, Ohtaka-Maruyama C, Okado H, Kasai M, Castro DS, Guillemot F, Tan S-S. The zinc finger transcription factor RP58 negatively regulates Rnd2 for the control of neuronal migration during cortical development. Cerebral Cortex. 2013. doi: 10.1093/cercor/bht277. Epub 2013 Oct 1 (*denotes corresponding author) PMID: 24084125

Ohtaka-Maruyama C, Hirai S, Miwa A, Heng JI, Shitara H, Ishii R, Taya C, Kawano H, Kasai M, Nakajima K, Okado H. RP58 Regulates the Multipolar-Bipolar Transition of Newborn Neurons in the Developing Cerebral Cortex. Cell Reports. 2013 Feb 21;3(2):458-71. doi: 10.1016/j.celrep.2013.01.012. Epub 2013 Feb 7. PMID: 23395638

Haas M, Qu Z, Kim TH, Vargas E, Campbell K, Petrou S, Tan S-S, Reid CA, Heng JI. Perturbations in cortical development and seizure susceptibility arising from prenatal exposure to benzodiazepines in mice. European Journal of Neuroscience. 2013 May;37(10):1584-93. doi: 10.1111/ejn.12167. PMID: 23451919

Publications in 2012

Heng JI*, Breuss M*, Poirier K, Tian GL, Jaglin JH, Qu Z, Braun A, Gstrein T, Ngo L, Haas M, Bahi-Buisson N, Moutard M-L, Passemard S, Verloes A, Gressens P, Xie YL, Robson KJH, Rani DS, Thangaraj K, Clausen T, Chelly J, Cowan NJ, Keays DA. Mutations in the b-tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities. Cell Reports. 2012 Dec 27;2(6):1554-62. (*denotes equal authorship) PMID: 23246003

Kim TH, Richards K, Heng JI, Petrou S, Reid CA. Two lines of transgenic mice expressing cre recombinase exhibit increased seizure susceptibility. Epilepsia. 2012 Nov 26. doi:pii: S0920-1211(12)00311-7. PMID: 23196213

Bogoyevitch MA, Yeap YY, Qu Z, Ngoei KR, Yip YY, Zhao TT, Heng JI, Ng DC (2012) WD40-repeat protein 62 is a JNK-phosphorylated spindle pole protein required for spindle maintenance and timely mitotic progression. Journal of Cell Science. 2012 Nov 1;125(Pt 21):5096-109. PMID: 22899712

Publications to 2011

Alfano C, Viola L, Heng JI, Pirozzi M, Clarkson M, Flore G, De Maio A, Schedl A, Guillemot F, Studer M. (2011) COUP-TFI promotes radial migration and proper morphology of callosal projection neurons by repressing Rnd2 expression. Development. Nov;138(21):4685-97. PMID: 21965613

Pacary E, Heng JI, Azzarelli R, Riou P, Castro DS, Lebel-Potter M, Parras C, Bell DM, Ridley AJ, Parsons M, Guillemot F (2011) Proneural transcription factors regulate different steps of cortical neuron migration through Rnd-mediated inhibition of RhoA signalling. Neuron, 24;69(6):1069-84.  PMID: 21435554

Mérot Y, Rétaux S, Heng JI* (2009) Molecular mechanisms of projection neuron production and maturation in the developing cerebral cortex. Seminars in Cell and Developmental Biology, 20(6):726-34. (*corresponding author) PMID: 19442543

Heng JI, Nguyen L, Castro DS, Zimmer C, Wildner H, Armant O, Skowronska-Krawczyk D, Bedogni F, Matter JM, Hevner R, Guillemot F. (2008) Neurogenin 2 controls cortical neuron migration through regulation of Rnd2. Nature, 455(7209):114-8. PMID: 18690213

Zhao X, Heng JI, Guardavaccaro D, Jiang R, Pagano M, Guillemot F, Iavarone A, Lasorella A (2008) The HECT-domain ubiquitin ligase Huwe1 controls neural differentiation and proliferation by destabilizing the N-Myc oncoprotein. Nature Cell Biology, 10(6):643-53. PMID: 18488021

Nguyen L, Besson A, Heng JI, Schuurmans C, Teboul L, Parras C, Philpott A, Roberts JM, Guillemot F (2007) [p27Kip1 independently promotes neuronal differentiation and migration in the cerebral cortex]. Medical Bulletin of the Belgian Academy of Research, 162(5-6):310-4. [French] PMID: 18405000

Nguyen L, Besson A, Heng JI, Schuurmans C, Teboul L, Parras C, Philpott A, Roberts JM, Guillemot F (2006) p27Kip1 independently promotes neuronal differentiation and migration in the cerebral cortex. Genes & Development, 20(11):1511-24. PMID: 16705040

Ge W, He F, Kim KJ, Blanchi B, Coskun V, Nguyen L, Wu X, Zhao J, Heng JI, Martinowich K, Tao J, Wu H, Castro D, Sobeih MM, Corfas G, Gleeson JG, Greenberg ME, Guillemot F, Sun YE (2006) Coupling of cell migration with neurogenesis by proneural bHLH factors. Proceedings of the National Academy of Sciences USA, 103(5): 1319-24. PMID: 16432194

Hand R, Bortone D, Mattar P, Nguyen L, Heng JI, Guerrier S, Boutt E, Peters E, Barnes AP, Parras C, Schuurmans C, Guillemot F, Polleux F. (2005) Phosphorylation of Neurogenin2 specifies the migration properties and the dendritic morphology of pyramidal neurons in the neocortex. Neuron, 48(1):45-62. PMID: 16202708

Heng JI, Tan, SS (2002) Cloning and characterisation of GRIPE, a novel interacting partner of the transcription factor E12. The Journal of Biological Chemistry, 277(45): 43152-9. PMID: 12200424