Nicole Van Bergen

Nox4 Facilitates TGF beta 1-Induced Fibrotic Response in Human Tenon's Fibroblasts and Promotes Wound Collagen Accumulation in Murine Model of Glaucoma Filtration Surgery

Manisha H Shah, Elsa C Chan, Nicole J Van Bergen, Surinder S Pandav, Sze Ng, Jonathan G Crowston, Hitesh M Peshavariya

Journal article  |  2020  |  Antioxidants

Collagen accumulation in sub-conjunctival tissue at the surgical wound is one of the major complications associated with glaucoma ..

Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).

Simranpreet Kaur, Nicole J Van Bergen, Bruria Ben-Zeev, Emanuela Leonardi, Tiong Y Tan, David Coman, Benjamin Kamien, Susan M White, Miya St John, Dean Phelan, Kristin Rigbye, Sze Chern Lim, Michelle C Torres, Melanie Marty, Elena Savva, Teresa Zhao, Sean Massey, Alessandra Murgia, Wendy A Gold, John Christodoulou

Journal article  |  2020  |  Journal of Genetics and Genomics

Cover, Volume 41, Issue 10

Simranpreet Kaur, Nicole J Van Bergen, Kristen J Verhey, Cameron J Nowell, Breane Budaitis, Yang Yue, Carolyn Ellaway, Nicola Brunetti‐Pierri, Gerarda Cappuccio, Irene Bruno, Lia Boyle, Vincenzo Nigro, Annalaura Torella, Tony Roscioli, Mark J Cowley, Sean Massey, Rhea Sonawane, Matthew D Burton, Bitten Schonewolf‐Greulich, Zeynep Tümer, et al.

Journal article  |  2020  |  Human Mutation

Reply: Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy

Nicole J Van Bergen, Molly Ellery, John Christodoulou

Journal article  |  2020  |  Brain

Mutations in the exocyst component EXOC2 cause severe defects in human brain development

Nicole J Van Bergen, Syed Mukhtar Ahmed, Felicity Collins, Mark Cowley, Annalisa Vetro, Russell C Dale, Daniella H Hock, Christian de Caestecker, Minal Menezes, Sean Massey, Gladys Ho, Tiziana Pisano, Seana Glover, Jovanka Gusman, David A Stroud, Marcel Dinger, Renzo Guerrini, Ian G Macara, John Christodoulou

Journal article  |  2020  |  Journal of Experimental Medicine

The exocyst, an octameric protein complex, is an essential component of the membrane transport machinery required for tethering an..

OXPHOS bioenergetic compensation does not explain disease penetrance in Leber hereditary optic neuropathy

M Isabel G Lopez Sanchez, Nicole J Van Bergen, Lisa S Kearns, Mark Ziemann, Helena Liang, Alex W Hewitt, David A Mackey, Ian A Trounce

Journal article  |  2020  |  Mitochondrion

Leber hereditary optic neuropathy (LHON) is one of the most common primary mitochondrial diseases. It is caused by point mutations..

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

Simranpreet Kaur, Nicole J Van Bergen, Kristen J Verhey, Cameron J Nowell, Breane Budaitis, Yang Yue, Carolyn Ellaway, Nicola Brunetti-Pierri, Gerarda Cappuccio, Irene Bruno, Lia Boyle, Vincenzo Nigro, Annalaura Torella, Tony Roscioli, Mark J Cowley, Sean Massey, Rhea Sonawane, Matthew D Burton, Bitten Schonewolf-Greulich, Zeynep Tumer, et al.

Journal article  |  2020  |  Human Mutation

Defects in the motor domain of kinesin family member 1A (KIF1A), a neuron-specific ATP-dependent anterograde axonal transporter of..

Reply: NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness

Nicole J Van Bergen, Carole L Linster, John Christodoulou

Journal article  |  2020  |  Brain

Bi-allelic LoF NRROS Variants Impairing Active TGF-beta 1 Delivery Cause a Severe Infantile-Onset Neuro degenerative Condition with Intracranial Calcification

Xiaomin Dong, Natalie B Tan, Katherine B Howell, Sabina Barresi, Jeremy L Freeman, Davide Vecchio, Maria Piccione, Francesca Clementina Radio, Daniel Calame, Shan Zong, Stefanie Eggers, Ingrid E Scheffer, Tiong Y Tan, Nicole J Van Bergen, Marco Tartaglia, John Christodoulou, Susan M White

Journal article  |  2020  |  American Journal of Human Genetics

Negative regulator of reactive oxygen species (NRROS) is a leucine-rich repeat-containing protein that uniquely associates with la..

Reply: Recurrent bi-allelic splicing variant c.454 3A > G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement

Nicole J Van Bergen, John Christodoulou

Journal article  |  2020  |  Brain