Thomas Besnard Selected Research

Intellectual Disability (Idiocy)

1/2023	PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
1/2022	THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
1/2021	Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
1/2019	Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
1/2019	Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
11/2017	De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
2/2017	De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
1/2017	Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
1/2017	Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
4/2016	De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.

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Thomas Besnard Research Topics

Disease

10	Intellectual Disability (Idiocy) 01/2023 - 04/2016
8	Neurodevelopmental Disorders 01/2024 - 01/2016
4	Neoplasms (Cancer) 01/2022 - 01/2016
3	Autism Spectrum Disorder 01/2021 - 01/2017
2	Autistic Disorder (Autism) 01/2021 - 01/2019
2	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2017 - 01/2017
2	Usher Syndromes (Usher Syndrome) 01/2012 - 06/2010
1	Pelger-Huet Anomaly 10/2022
1	Hearing Loss (Hearing Impairment) 01/2022
1	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2020
1	Neurologic Manifestations (Neurological Manifestations) 12/2020
1	Carcinogenesis 12/2020
1	Premature Aging 01/2020
1	Dysostoses 01/2020
1	Alopecia (Baldness) 01/2019
1	Cataract (Cataracts) 01/2019
1	Deafness (Deaf Mutism) 02/2017
1	Seizures (Absence Seizure) 01/2016

Drug/Important Bio-Agent (IBA)

4	Proteins (Proteins, Gene)FDA Link 01/2024 - 04/2016
4	Proteasome Endopeptidase Complex (Proteasome)IBA 01/2023 - 01/2017
2	ATP dependent 26S protease (26S proteasome)IBA 01/2024 - 02/2017
2	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 01/2017 - 01/2017
1	ATPases Associated with Diverse Cellular ActivitiesIBA 01/2023
1	ChromatinIBA 10/2022
1	UbiquitinIBA 01/2022
1	CyclinsIBA 01/2022
1	F-Box ProteinsIBA 01/2022
1	Transfer RNA (tRNA)IBA 01/2022
1	Co-Repressor ProteinsIBA 01/2021
1	Sin3 Histone Deacetylase and Corepressor ComplexIBA 01/2021
1	Histones (Histone)IBA 12/2020
1	VimentinIBA 01/2020
1	lanosterol synthaseIBA 01/2019
1	CholesterolIBA 01/2019
1	Histone Acetyltransferases (Histone Acetyltransferase)IBA 01/2019
1	Protein Kinases (Protein Kinase)IBA 11/2017
1	Deubiquitinating EnzymesIBA 04/2017
1	Adenosine Triphosphatases (ATPase)IBA 02/2017
1	PhosphoproteinsIBA 04/2016
1	GTP-Binding Proteins (G-Protein)IBA 01/2016
1	Guanine NucleotidesIBA 01/2016
1	RNA (Ribonucleic Acid)IBA 06/2010
1	Local AnestheticsIBA 06/2010
1	Messenger RNA (mRNA)IBA 06/2010

Therapy/Procedure

1	Therapeutics 01/2012