Han G Brunner Selected Research

Propping Zerres syndrome

8/2006	Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.
4/2002	Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.

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Han G Brunner Research Topics

Disease

14	Intellectual Disability (Idiocy) 05/2018 - 03/2009
6	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2022 - 01/2018
5	Neurodevelopmental Disorders 01/2021 - 01/2018
4	Breast Neoplasms (Breast Cancer) 01/2016 - 06/2010
3	Robinow Syndrome 01/2018 - 01/2010
3	Dwarfism 12/2015 - 02/2008
3	Microcephaly 01/2015 - 08/2007
3	Walker-Warburg Syndrome 05/2012 - 11/2002
3	Nonsyndromic Deafness 01/2008 - 07/2007
2	Anorectal Malformations 01/2022 - 06/2014
2	Heart Failure 01/2021 - 10/2020
2	Infections 01/2021 - 10/2007
2	Cardiac Arrhythmias (Arrythmia) 01/2021 - 01/2018
2	Fibrosis (Cirrhosis) 01/2021 - 01/2018
2	Chromosome 17q21.31 Deletion Syndrome 01/2019 - 04/2012
2	Neoplasms (Cancer) 06/2017 - 01/2009
2	Meier-Gorlin syndrome 12/2015 - 01/2013
2	Craniofrontonasal dysplasia 04/2013 - 06/2006
2	Ectodermal Dysplasia (Aplasia Cutis Congenita) 07/2008 - 07/2006
2	Propping Zerres syndrome 08/2006 - 04/2002
2	Facial Paralysis (Facial Palsy) 08/2005 - 07/2005
1	Sacral defect and anterior sacral meningocele 01/2022
1	Snijders Blok-Campeau syndrome 01/2022
1	Genomic Instability 01/2022
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2022
1	Ciliary Motility Disorders (Primary Ciliary Dyskinesia) 01/2021
1	Lung Diseases (Lung Disease) 01/2021
1	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2021
1	Kartagener Syndrome (Kartagener's Syndrome) 01/2021
1	Infertility (Sterility) 01/2021
1	Ciliopathies 01/2021
1	Floating-harbor syndrome 01/2021
1	Inflammation (Inflammations) 11/2020
1	Respiratory Insufficiency (Respiratory Failure) 01/2020
1	COVID-19 01/2020
1	Mental Disorders (Mental Disorder) 10/2019
1	Acquired Immunodeficiency Syndrome (AIDS) 01/2019
1	Laminopathies 01/2019
1	Hypertrophy 01/2018
1	Cognitive Dysfunction 01/2018
1	Cardiomyopathies (Cardiomyopathy) 01/2018
1	Overweight 01/2018
1	Propionic Acidemia 11/2017
1	Gastroesophageal Reflux (GERD) 03/2016
1	Failure to Thrive 03/2016
1	Language Disorders (Language Disorder) 02/2016
1	Rare Diseases (Rare Disease) 10/2015
1	Thyroid Hormone Resistance Syndrome (Thyroid Hormone Resistance) 05/2015
1	Hypercholesterolemia 05/2015
1	Facies 06/2014

Drug/Important Bio-Agent (IBA)

15	Proteins (Proteins, Gene)FDA Link 01/2022 - 07/2004
13	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 04/2002
5	Transcription Factors (Transcription Factor)IBA 01/2019 - 07/2006
3	ConnectinIBA 01/2022 - 01/2018
3	RNA (Ribonucleic Acid)IBA 01/2021 - 07/2005
3	ChromatinIBA 06/2017 - 04/2012
3	Nonsense Codon (Nonsense Mutation)IBA 03/2016 - 07/2007
2	Biomarkers (Surrogate Marker)IBA 01/2021 - 04/2012
2	Lamin Type A (Lamin A)IBA 01/2020 - 01/2019
2	2- amino- 1- methyl- 6- phenylimidazo(4,5- b)pyridineIBA 01/2019 - 01/2018
2	Ephrin-B1 (Ephrin B1)IBA 04/2013 - 06/2006
2	Dystroglycans (Dystroglycan)IBA 05/2012 - 05/2006
2	AcidsIBA 11/2011 - 07/2007
2	Protein Isoforms (Isoforms)IBA 07/2008 - 08/2006
2	Myosins (Myosin)IBA 10/2007 - 07/2004
2	NucleotidesIBA 08/2006 - 08/2005
1	thymidine 5'-triphosphate (thymidine triphosphate)IBA 01/2022
1	Cytoplasmic DyneinsIBA 01/2021
1	procollagen Type III-N-terminal peptide (PIIP)IBA 01/2021
1	GadoliniumIBA 01/2021
1	Procollagen Type IIBA 01/2021
1	Collagen Type III (Type III Collagen)IBA 01/2021
1	procollagen type I carboxy terminal peptide (PICP)IBA 01/2021
1	Axonemal DyneinsIBA 01/2021
1	CollagenIBA 01/2021
1	Dyneins (Dynein)IBA 01/2021
1	pro-brain natriuretic peptide (1-76)IBA 03/2020
1	Brain Natriuretic Peptide (Natrecor)FDA Link 03/2020
1	DAPIIBA 01/2019
1	Adenosine Triphosphatases (ATPase)IBA 11/2018
1	Mediator ComplexIBA 05/2018
1	diazonaphthalenedisulfonic acid (NDS)IBA 01/2018
1	Nucleosomes (Nucleosome)IBA 01/2018
1	Histone Acetyltransferases (Histone Acetyltransferase)IBA 01/2018
1	Guanosine Triphosphate (GTP)IBA 11/2017
1	Guanosine Diphosphate (GDP)IBA 11/2017
1	6-propylchromone-2-carboxylic acid (PCCA)IBA 11/2017
1	Co-Repressor ProteinsIBA 01/2016
1	MMEIBA 10/2015
1	Thyroid Hormone Receptors (Thyroid Hormone Receptor)IBA 05/2015
1	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 05/2015
1	Thyroxine (Levothyroxine)FDA LinkGeneric 05/2015
1	Cullin Proteins (Cullins)IBA 01/2015
1	Folic Acid (Vitamin M)FDA LinkGeneric 06/2014
1	CohesinsIBA 06/2014

Therapy/Procedure

3	Heart Transplantation (Grafting, Heart) 01/2021 - 01/2018
2	Therapeutics 11/2020 - 08/2013
1	Cardiac Resynchronization Therapy 11/2020
1	Artificial Respiration (Mechanical Ventilation) 01/2020
1	Gastrostomy 03/2016