Michael J Friez Selected Research

Lujan Fryns syndrome

8/2008	Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation.
7/2007	The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

Michael J Friez Research Topics

Disease

4	Intellectual Disability (Idiocy) 11/2015 - 12/2006
3	Rett Syndrome (Rett's Disorder) 01/2017 - 04/2004
3	Opitz-Kaveggia syndrome 12/2008 - 07/2007
2	Autistic Disorder (Autism) 01/2019 - 11/2015
2	Fragile X Syndrome (Martin Bell Syndrome) 01/2014 - 10/2009
2	Lujan Fryns syndrome 08/2008 - 07/2007
2	X-Linked Mental Retardation (Mental Retardation, X Linked) 08/2008 - 12/2006
1	Ectodermal Dysplasia (Aplasia Cutis Congenita) 10/2021
1	Scalp ear nipple syndrome 10/2021
1	Genomic Instability 01/2020
1	Carpal Tunnel Syndrome 01/2019
1	Rheumatoid Arthritis 01/2019
1	Epilepsy (Aura) 11/2018
1	Thrombocytopenia (Thrombopenia) 10/2018
1	Sialic Acid Storage Disease (Salla Disease) 01/2016
1	Neoplasms (Cancer) 01/2016
1	Cholangiocarcinoma 01/2016
1	Down Syndrome Critical Region 11/2015
1	Down Syndrome (Down's Syndrome) 11/2015
1	Mucolipidoses (Sialidosis) 05/2014
1	Myelodysplastic Syndromes (Myelodysplastic Syndrome) 01/2014
1	Angelman Syndrome (Syndrome, Angelman) 11/2010
1	Atrophy 11/2010
1	Alzheimer Disease (Alzheimer's Disease) 05/2010
1	Autism Spectrum Disorder 05/2010
1	Muscle Hypotonia (Hypotonia) 12/2006
1	Infections 12/2006
1	Primary Ovarian Insufficiency 07/2005

Drug/Important Bio-Agent (IBA)

4	Proteins (Proteins, Gene)FDA Link 01/2019 - 04/2004
2	RNA Polymerase II (RNA Polymerase B)IBA 11/2012 - 07/2007
1	Potassium Channels (Potassium Channel)IBA 10/2021
1	B-Form DNA (B-DNA)IBA 01/2020
1	Nonsense Codon (Nonsense Mutation)IBA 01/2019
1	Immunosuppressive Agents (Immunosuppressants)IBA 01/2019
1	CalciumIBA 11/2018
1	Microfilament Proteins (Actin Binding Proteins)IBA 10/2018
1	ChromatinIBA 01/2017
1	N-Acetylneuraminic Acid (Sialic Acid)IBA 01/2016
1	DNA (Deoxyribonucleic Acid)IBA 01/2016
1	Dyrk KinasesIBA 11/2015
1	mutalipocin IIIBA 05/2014
1	Glutamic Acid (Glutamate)FDA Link 11/2010
1	Glutamine (L-Glutamine)FDA Link 11/2010
1	SodiumIBA 05/2010
1	Protons (Proton)IBA 05/2010
1	beta-apocarotenoid-14',13'-dioxygenase (ADO)IBA 04/2010
1	N-acetyltalosaminuronic acid (NAT)IBA 12/2008
1	Co-Repressor ProteinsIBA 08/2008
1	Methyl-CpG-Binding Protein 2IBA 12/2006
1	Protein Isoforms (Isoforms)IBA 04/2004

Therapy/Procedure

1	Replacement Arthroplasty 01/2019
1	Drug Therapy (Chemotherapy) 01/2014
1	Ligation 12/2006
1	Transplantation 07/2005