Nicolas Pilon Selected Research

CHARGE Syndrome

1/2022	CHARGE syndrome-associated proteins FAM172A and CHD7 influence male sex determination and differentiation through transcriptional and alternative splicing mechanisms.
1/2021	Chromatin remodeller CHD7 is required for GABAergic neuron development by promoting PAQR3 expression.
1/2019	Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes.
1/2018	Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.

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Nicolas Pilon Research Topics

Disease

4	CHARGE Syndrome 01/2022 - 01/2018
4	Hirschsprung Disease (Hirschsprung's Disease) 12/2021 - 12/2015
2	Dysbiosis 11/2020 - 01/2019
1	Trisomy (Trisomies) 12/2021
1	Diarrhea 12/2020
1	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 12/2020
1	Irritable Bowel Syndrome (Syndrome, Irritable Bowel) 12/2020
1	Megacolon 01/2019
1	Intestinal Pseudo-Obstruction (Intestinal Pseudoobstruction) 01/2019
1	Coloboma (Colobomas) 01/2018
1	type 4 Waardenburg syndrome 11/2016
1	Down Syndrome (Down's Syndrome) 12/2015

Drug/Important Bio-Agent (IBA)

4	ChromatinIBA 01/2022 - 01/2018
2	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2020
2	CollagenIBA 12/2021 - 12/2015
2	Glial Cell Line-Derived Neurotrophic Factor (GDNF)IBA 12/2021 - 11/2020
1	Histamine (Histamine Dihydrochloride)FDA Link 12/2020
1	EnzymesIBA 12/2020
1	Nitric Oxide (Nitrogen Monoxide)FDA Link 01/2019
1	Anti-Bacterial Agents (Antibiotics)IBA 01/2019
1	DNA HelicasesIBA 01/2018
1	Carrier Proteins (Binding Protein)IBA 01/2018
1	Transcription Factors (Transcription Factor)IBA 11/2016
1	Long Noncoding RNAIBA 11/2016

Therapy/Procedure

1	Enema (Enemas) 12/2021