Karen Usdin Selected Research

5' Untranslated Regions (5' UTR)

1/2022	Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation.
10/2021	Mechanisms of Genome Instability in the Fragile X-Related Disorders.
1/2019	Double-strand break repair plays a role in repeat instability in a fragile X mouse model.
1/2016	CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons.
6/2014	Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome.
1/2014	Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI).
1/2014	Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders.
1/2014	The multiple molecular facets of fragile X-associated tremor/ataxia syndrome.
1/2014	The mismatch repair protein MSH2 is rate limiting for repeat expansion in a fragile X premutation mouse model.
3/2013	Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice.

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Karen Usdin Research Topics

Disease

13	Fragile X Syndrome (Martin Bell Syndrome) 10/2021 - 11/2003
10	Intellectual Disability (Idiocy) 01/2022 - 03/2009
5	Ataxia (Dyssynergia) 11/2019 - 05/2005
5	Fragile X Tremor Ataxia Syndrome 01/2019 - 03/2013
5	Friedreich Ataxia (Friedreich's Ataxia) 11/2015 - 02/2005
3	Chromosome Fragility 11/2015 - 07/2008
3	Tremor (Tremors) 01/2014 - 05/2005
2	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2022 - 08/2005
2	Microsatellite Instability 10/2020 - 01/2020
2	Primary Ovarian Insufficiency 01/2014 - 01/2014
1	Huntington Disease (Huntington's Disease) 01/2022
1	Fanconi Anemia (Fanconi's Anemia) 11/2021
1	Neoplasms (Cancer) 10/2020
1	Autistic Disorder (Autism) 01/2016
1	Genomic Instability 03/2015
1	Learning Disabilities (Learning Disability) 06/2014
1	Infertility (Sterility) 01/2014
1	Chromosome Aberrations (Chromosome Abnormalities) 07/2012
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 03/2009
1	Male Infertility (Male Sterility) 03/2009
1	Spinocerebellar Degenerations (Marinesco Sjogren Syndrome) 01/2007
1	Hypersensitivity (Allergy) 08/2005
1	Decompression Sickness (Bends) 03/2005
1	Myotonic Dystrophy (Dystrophia Myotonica) 11/2003

Drug/Important Bio-Agent (IBA)

15	5' Untranslated Regions (5' UTR)IBA 01/2022 - 05/2005
5	Proteins (Proteins, Gene)FDA Link 11/2021 - 03/2005
5	Messenger RNA (mRNA)IBA 01/2016 - 02/2011
4	FrataxinIBA 11/2015 - 02/2005
4	Fragile X Mental Retardation ProteinIBA 07/2015 - 03/2013
2	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 11/2003
2	Folic Acid (Vitamin M)FDA LinkGeneric 01/2021 - 11/2015
2	HeterochromatinIBA 01/2020 - 03/2009
2	RNA (Ribonucleic Acid)IBA 08/2005 - 11/2003
1	Indicators and Reagents (Reagents)IBA 01/2022
1	Biomarkers (Surrogate Marker)IBA 10/2020
1	DNA HelicasesIBA 10/2020
1	EndonucleasesIBA 01/2020
1	Glutamine (L-Glutamine)FDA Link 11/2019
1	Phosphotransferases (Kinase)IBA 11/2015
1	RNA-Binding Proteins (RNA-Binding Protein)IBA 12/2014
1	Estrogens (Estrogen)FDA Link 01/2014
1	UbiquitinIBA 01/2014
1	Untranslated Regions (Untranslated Region)IBA 01/2013
1	Thymidylate SynthaseIBA 07/2012
1	ChromatinIBA 07/2012
1	2- morpholin- 4- yl- 6- thianthren- 1- yl- pyran- 4- oneIBA 07/2009
1	Small Interfering RNA (siRNA)IBA 07/2009
1	Sirtuin 1IBA 03/2008
1	Ataxin-10IBA 08/2005
1	HydrogenIBA 08/2005
1	Protein Kinases (Protein Kinase)IBA 11/2003
1	Complex MixturesIBA 11/2003
1	eIF-2 Kinase (eIF 2 Kinase)IBA 11/2003
1	InterferonsIBA 11/2003

Therapy/Procedure

1	Aftercare (After-Treatment) 01/2016
1	Therapeutics 01/2014