Search Results - "Heng, Julian I."

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3 by Sim, Joe C., Scerri, Thomas, Fanjul-Fernández, Miriam, Riseley, Jessica R., Gillies, Greta, Pope, Kate, van Roozendaal, Hanna, Heng, Julian I., Mandelstam, Simone A., McGillivray, George, MacGregor, Duncan, Kannan, Lakshminarayanan, Maixner, Wirginia, Harvey, A. Simon, Amor, David J., Delatycki, Martin B., Crino, Peter B., Bahlo, Melanie, Lockhart, Paul J., Leventer, Richard J.

“…We describe first cousin sibling pairs with focal epilepsy, one of each pair having focal cortical dysplasia (FCD) IIa. Linkage analysis and whole‐exome…”
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Disease‐associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortex by Hemming, Isabel A., Clément, Olivier, Gladwyn‐Ng, Ivan E., Cullen, Hayley D., Ng, Han Leng, See, Heng B., Ngo, Linh, Ulgiati, Daniela, Pfleger, Kevin D.G., Agostino, Mark, Heng, Julian I‐T.

“…The activities of DNA‐binding transcription factors, such as the multi‐zinc‐finger protein ZBTB18 (also known as RP58, or ZNF238), are essential to coordinate…”
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Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease by Heng, Julian I.‐T., Viti, Leon, Pugh, Kye, Marshall, Owen J., Agostino, Mark

“…Mutations to genes that encode DNA‐binding transcription factors (TFs) underlie a broad spectrum of human neurodevelopmental disorders. Here, we highlight the…”
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General population ZBTB18 missense variants influence DNA binding and transcriptional regulation by Hemming, Isabel A., Blake, Steven, Agostino, Mark, Heng, Julian I‐T.

“…Genetic variation of the multi‐zinc finger BTB domain transcription factor ZBTB18 can cause a spectrum of human neurodevelopmental disorders, but the…”
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WD40-repeat protein 62 is a JNK-phosphorylated spindle pole protein required for spindle maintenance and timely mitotic progression by Bogoyevitch, Marie A, Yeap, Yvonne Y C, Qu, Zhengdong, Ngoei, Kevin R, Yip, Yan Y, Zhao, Teresa T, Heng, Julian I, Ng, Dominic C H

“…The impact of aberrant centrosomes and/or spindles on asymmetric cell division in embryonic development indicates the tight regulation of bipolar spindle…”
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De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation by Haas, Matilda A., Ngo, Linh, Li, Shan Shan, Schleich, Sibylle, Qu, Zhengdong, Vanyai, Hannah K., Cullen, Hayley D., Cardona-Alberich, Aida, Gladwyn-Ng, Ivan E., Pagnamenta, Alistair T., Taylor, Jenny C., Stewart, Helen, Kini, Usha, Duncan, Kent E., Teleman, Aurelio A., Keays, David A., Heng, Julian I.-T.

“…Disruptions to neuronal mRNA translation are hypothesized to underlie human neurodevelopmental syndromes. Notably, the mRNA translation re-initiation factor…”
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Brain-Enriched Coding and Long Non-coding RNA Genes Are Overrepresented in Recurrent Neurodevelopmental Disorder CNVs by Alinejad-Rokny, Hamid, Heng, Julian I.T., Forrest, Alistair R.R.

“…Autism spectrum disorder (ASD) is a neurodevelopmental condition with substantial phenotypic and etiological heterogeneity. Although 10%–20% of ASD cases are…”
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Mutations of Vasopressin Receptor 2 Including Novel L312S Have Differential Effects on Trafficking by Tiulpakov, Anatoly, White, Carl W, Abhayawardana, Rekhati S, See, Heng B, Chan, Audrey S, Seeber, Ruth M, Heng, Julian I, Dedov, Ivan, Pavlos, Nathan J, Pfleger, Kevin D. G

“…Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a genetic disease first described in 2 unrelated male infants with severe symptomatic…”
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Transcriptional regulation of intermediate progenitor cell generation during hippocampal development by Harris, Lachlan, Zalucki, Oressia, Gobius, Ilan, McDonald, Hannah, Osinki, Jason, Harvey, Tracey J, Essebier, Alexandra, Vidovic, Diana, Gladwyn-Ng, Ivan, Burne, Thomas H, Heng, Julian I, Richards, Linda J, Gronostajski, Richard M, Piper, Michael

“…During forebrain development, radial glia generate neurons through the production of intermediate progenitor cells (IPCs). The production of IPCs is a central…”
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Brinp1(-/-) mice exhibit autism-like behaviour, altered memory, hyperactivity and increased parvalbumin-positive cortical interneuron density by Berkowicz, Susan R, Featherby, Travis J, Qu, Zhengdong, Giousoh, Aminah, Borg, Natalie A, Heng, Julian I, Whisstock, James C, Bird, Phillip I

“…BMP/RA-inducible neural-specific protein 1 (Brinp1) is highly conserved in vertebrates, and continuously expressed in the neocortex, hippocampus, olfactory…”
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Correction: Transcriptional regulation of intermediate progenitor cell generation during hippocampal development (doi: 10.1242/dev.140681) by Harris, Lachlan, Zalucki, Oressia, Gobius, Ilan, McDonald, Hannah, Osinki, Jason, Harvey, Tracey J, Essebier, Alexandra, Vidovic, Diana, Gladwyn-Ng, Ivan, Burne, Thomas H, Heng, Julian I, Richards, Linda J, Gronostajski, Richard M, Piper, Michael

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Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance by Woodward, Karen J., Stampalia, Julie, Vanyai, Hannah, Rijhumal, Hashika, Potts, Kim, Taylor, Fiona, Peverall, Joanne, Grumball, Tanya, Sivamoorthy, Soruba, Alinejad‐Rokny, Hamid, Wray, John, Whitehouse, Andrew, Nagarajan, Lakshmi, Scurlock, Jacqueline, Afchani, Sabine, Edwards, Matthew, Murch, Ashleigh, Beilby, John, Baynam, Gareth, Kiraly‐Borri, Cathy, McKenzie, Fiona, Heng, Julian I. T.

“…Background Chromosome 22q11.2 is susceptible to genomic rearrangements and the most frequently reported involve deletions and duplications between low copy…”
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Atypical nested 22q11.2 duplications between LCR 22B and LCR 22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance by Woodward, Karen J., Stampalia, Julie, Vanyai, Hannah, Rijhumal, Hashika, Potts, Kim, Taylor, Fiona, Peverall, Joanne, Grumball, Tanya, Sivamoorthy, Soruba, Alinejad‐Rokny, Hamid, Wray, John, Whitehouse, Andrew, Nagarajan, Lakshmi, Scurlock, Jacqueline, Afchani, Sabine, Edwards, Matthew, Murch, Ashleigh, Beilby, John, Baynam, Gareth, Kiraly‐Borri, Cathy, McKenzie, Fiona, Heng, Julian I. T.

“…BackgroundChromosome 22q11.2 is susceptible to genomic rearrangements and the most frequently reported involve deletions and duplications between low copy…”
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A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability by Li, Nana, Kang, Hong, Zou, Yanna, Liu, Zhen, Deng, Ying, Wang, Meixian, Li, Lu, Qin, Hong, Qiu, Xiaoqiong, Wang, Yanping, Zhu, Jun, Agostino, Mark, Heng, Julian I-T, Yu, Ping

“…Intellectual disability (ID) is a common neurodevelopmental disorder characterized by significantly impaired adaptive behavior and cognitive capacity. High…”
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