Margaret A Pericak-Vance Selected Research

Autistic Disorder (Autism)

1/2020	Three Brothers With Autism Carry a Stop-Gain Mutation in the HPA-Axis Gene NR3C2.
4/2012	Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci.
1/2011	A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism.
7/2010	Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.
10/2009	Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
8/2007	Investigation of potential gene-gene interactions between APOE and RELN contributing to autism risk.
7/2006	Investigation of autism and GABA receptor subunit genes in multiple ethnic groups.
1/2002	No association between the WNT2 gene and autistic disorder.

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Margaret A Pericak-Vance Research Topics

Disease

57	Alzheimer Disease (Alzheimer's Disease) 11/2022 - 12/2003
20	Macular Degeneration (Age-Related Maculopathy) 01/2019 - 01/2004
14	Multiple Sclerosis 10/2015 - 03/2002
9	Parkinson Disease (Parkinson's Disease) 06/2016 - 05/2003
8	Autistic Disorder (Autism) 01/2020 - 01/2002
7	Open-Angle Glaucoma (Glaucoma, Open Angle) 11/2019 - 01/2013
5	Dementia (Dementias) 01/2020 - 09/2010
5	Hereditary Spastic Paraplegia 02/2012 - 11/2002
4	Glaucoma 01/2016 - 01/2013
3	Genetic Risk Score 07/2022 - 01/2016
3	Autism Spectrum Disorder 01/2018 - 06/2011
3	Inflammation (Inflammations) 01/2018 - 06/2005
3	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2017 - 12/2004
3	Genetic Predisposition to Disease (Genetic Predisposition) 06/2010 - 10/2003
2	Thrombosis (Thrombus) 11/2021 - 01/2018
2	Atrophy 08/2019 - 01/2011
2	Geographic Atrophy 08/2019 - 09/2006
2	Vitamin D Deficiency 06/2016 - 04/2015
2	Intellectual Disability (Idiocy) 07/2015 - 07/2010
2	Disease Susceptibility (Diathesis) 10/2013 - 12/2012
2	Rett Syndrome (Rett's Disorder) 07/2010 - 03/2003
2	Blindness (Hysterical Blindness) 01/2006 - 01/2004
1	Breast Neoplasms (Breast Cancer) 06/2022
1	Frontotemporal Lobar Degeneration (Degeneration, Frontotemporal Lobar) 02/2022
1	Amyloid Plaque 01/2022
1	Venous Thrombosis (Deep-Vein Thrombosis) 11/2021
1	Knee Injuries (Knee Injury) 01/2018
1	Wounds and Injuries (Trauma) 01/2018
1	Rare Diseases (Rare Disease) 11/2014

Drug/Important Bio-Agent (IBA)

32	Apolipoproteins E (ApoE)IBA 11/2022 - 12/2004
20	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2002
15	ApolipoproteinsIBA 11/2022 - 03/2002
8	Amyloid (Amyloid Fibrils)IBA 01/2022 - 01/2011
7	Biological ProductsIBA 01/2022 - 08/2007
7	Complement Factor H (Factor H)IBA 06/2014 - 04/2005
6	HLA-DRB1 Chains (HLA DRB1)IBA 11/2010 - 01/2004
4	Mitochondrial DNA (mtDNA)IBA 01/2022 - 07/2004
4	LipidsIBA 01/2021 - 06/2015
4	Apolipoprotein E4IBA 01/2020 - 02/2006
4	gamma-Aminobutyric Acid (GABA)IBA 01/2018 - 07/2006
4	HLA Antigens (Human Leukocyte Antigens)IBA 10/2015 - 10/2003
3	Retinaldehyde (Retinal)IBA 01/2019 - 01/2004
3	RNA (Ribonucleic Acid)IBA 01/2018 - 06/2005
3	Vitamin D FDA LinkGeneric 06/2016 - 08/2012
2	Complement System Proteins (Complement)IBA 01/2018 - 09/2014
2	Peptides (Polypeptides)IBA 01/2017 - 01/2011
2	DNA (Deoxyribonucleic Acid)IBA 06/2016 - 10/2009
2	Adenosine Triphosphate (ATP)IBA 06/2016 - 07/2003
2	MicroRNAs (MicroRNA)IBA 01/2016 - 01/2016
2	NucleotidesIBA 01/2016 - 06/2011
2	Threonine (L-Threonine)FDA Link 02/2015 - 04/2013
2	Estrogens (Estrogen)FDA Link 07/2014 - 01/2013
2	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 07/2014 - 01/2006
2	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 05/2014 - 08/2012
2	GABA Receptors (GABA Receptor)IBA 04/2012 - 07/2006
2	Folic Acid (Vitamin M)FDA LinkGeneric 06/2011 - 09/2010
2	Methyl-CpG-Binding Protein 2IBA 07/2010 - 03/2003
2	3' Untranslated Regions (3' UTR)IBA 03/2010 - 01/2002
2	Interleukin-7 (Interleukin 7)IBA 03/2010 - 08/2007
2	Apolipoprotein E3IBA 11/2007 - 02/2006
2	SpastinIBA 09/2005 - 09/2004
1	Protein Phosphatase 2 (Protein Phosphatase 2A)IBA 11/2022
1	Complement C4 (Complement Component 4)IBA 11/2022
1	ProgranulinsIBA 02/2022
1	Low-Molecular-Weight Heparin (Heparin, Low Molecular Weight)IBA 11/2021
1	sharpinIBA 01/2021
1	Staphylococcal Protein A (Protein A)IBA 01/2020
1	Hormones (Hormone)IBA 01/2020
1	Apolipoprotein E2IBA 01/2020
1	Mineralocorticoid Receptors (Mineralocorticoid Receptor)IBA 01/2020
1	Transcription Factors (Transcription Factor)IBA 01/2020
1	SteroidsIBA 01/2020
1	Cytoplasmic and Nuclear Receptors (Nuclear Receptors)IBA 01/2020
1	SDDSIBA 08/2019
1	Carrier Proteins (Binding Protein)IBA 01/2019
1	Testosterone (Sustanon)FDA Link 01/2018
1	Gonadal Steroid Hormones (Sex Hormones)IBA 01/2018
1	factor V LeidenIBA 01/2018
1	Caspase 8 (Caspase-8)IBA 01/2017
1	Interleukin-6 (Interleukin 6)IBA 01/2017
1	Amyloid beta-PeptidesIBA 01/2017
1	CaspasesIBA 01/2017
1	Interleukin-6 Receptors (Interleukin 6 Receptor)IBA 01/2017
1	Calcium Channels (Calcium Channel)IBA 06/2016
1	ras ProteinsIBA 07/2015
1	C-Reactive ProteinIBA 06/2015
1	hydroxide ionIBA 04/2015
1	Alanine (L-Alanine)FDA Link 02/2015
1	Glycoproteins (Glycoprotein)IBA 11/2014
1	ElastinIBA 11/2014
1	Fibrillin-2IBA 11/2014
1	Acetyl Coenzyme A (Acetyl-CoA)IBA 10/2014
1	GlycosaminoglycansIBA 10/2014
1	Heparitin Sulfate (Heparan Sulfate)IBA 10/2014
1	Phenylalanine (L-Phenylalanine)FDA Link 10/2014
1	Tryptophan (L-Tryptophan)FDA Link 10/2014
1	Tyrosine (L-Tyrosine)FDA Link 10/2014
1	Caveolin 1IBA 02/2014

Therapy/Procedure

2	Therapeutics 01/2016 - 10/2013
1	Precision Medicine 01/2019