Frank J Kaiser Selected Research

De Lange Syndrome (Cornelia De Lange Syndrome)

1/2021	ANKRD11 variants: KBG syndrome and beyond.
1/2020	MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.
1/2020	Chromatinopathies: A focus on Cornelia de Lange syndrome.
11/2018	Novel mosaic variants in two patients with Cornelia de Lange syndrome.
1/2018	Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome.
12/2017	Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.
2/2017	mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome.
1/2017	Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
1/2016	Gene regulation and chromatin organization: relevance of cohesin mutations to human disease.
9/2012	HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.

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Frank J Kaiser Research Topics

Disease

10	De Lange Syndrome (Cornelia De Lange Syndrome) 01/2021 - 09/2012
6	X-Linked Torsion Dystonia 3 04/2022 - 09/2014
6	Dystonia (Limb Dystonia) 01/2021 - 10/2010
3	Neurodevelopmental Disorders 10/2021 - 01/2017
3	Dystonia musculorum deformans type 1 09/2014 - 10/2010
2	Neurodegenerative Diseases (Neurodegenerative Disease) 04/2022 - 01/2021
2	Genomic Instability 10/2021 - 12/2017
2	Neoplasms (Cancer) 01/2016 - 09/2015
1	Cicatrix (Scar) 01/2022
1	KBG syndrome 01/2021
1	Muscular Dystrophies (Muscular Dystrophy) 01/2020
1	Meningocele 01/2020
1	Hydrocephalus (Hydrocephaly) 01/2020
1	Movement Disorders (Movement Disorder) 01/2019
1	Hypersensitivity (Allergy) 08/2017
1	Chromosome Breakage 05/2017
1	Drug Resistant Epilepsy 01/2017
1	Epilepsy (Aura) 01/2017
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2017
1	Neoplasm Metastasis (Metastasis) 09/2015
1	Carcinogenesis 09/2015
1	Breast Neoplasms (Breast Cancer) 09/2015
1	Cardiomegaly (Heart Hypertrophy) 01/2015
1	Hypertension (High Blood Pressure) 01/2015
1	Parkinson Disease (Parkinson's Disease) 09/2014
1	Facies 06/2014
1	Type 2 Episodic Ataxia 04/2014
1	Cerebellar Ataxia (Dysmetria) 04/2014
1	Migraine with Aura (Familial Hemiplegic Migraine) 04/2014
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 04/2014
1	Coronary Disease (Coronary Heart Disease) 03/2014
1	Thrombosis (Thrombus) 12/2013
1	Wounds and Injuries (Trauma) 12/2013
1	Myocardial Infarction 12/2013
1	Syndactyly (Polysyndactyly) 03/2008
1	Telecanthus 03/2008

Drug/Important Bio-Agent (IBA)

11	Proteins (Proteins, Gene)FDA Link 01/2022 - 04/2011
8	CohesinsIBA 01/2020 - 09/2012
5	Transcription Factors (Transcription Factor)IBA 01/2021 - 10/2010
4	Retroelements (Retrotransposon)IBA 04/2022 - 01/2019
4	ChromatinIBA 01/2021 - 01/2017
4	DNA (Deoxyribonucleic Acid)IBA 01/2021 - 09/2014
2	NucleotidesIBA 12/2020 - 09/2014
1	Wiskott-Aldrich Syndrome ProteinIBA 01/2022
1	Double-Stranded RNA (RNA, Double Stranded)IBA 10/2021
1	Prokaryotic Initiation Factor-2IBA 01/2021
1	Dopamine (Intropin)FDA LinkGeneric 01/2021
1	hydrogen sulfite (bisulfite)IBA 12/2020
1	Creatine Kinase (Creatine Phosphokinase)IBA 01/2020
1	Zinc Finger E-box-Binding Homeobox 1IBA 08/2017
1	Deoxyribonuclease I (Nickase)IBA 08/2017
1	Messenger RNA (mRNA)IBA 02/2017
1	Protein Isoforms (Isoforms)IBA 02/2017
1	Dichlorodiphenyldichloroethane (DDD)IBA 01/2017
1	Cathepsin DIBA 09/2015
1	Peptide Hydrolases (Proteases)FDA Link 09/2015
1	Parathyroid Hormone-Related ProteinIBA 09/2015
1	ReninIBA 01/2015
1	ConnexinsIBA 01/2015
1	Calcium Channels (Calcium Channel)IBA 04/2014
1	Amino Acids FDA Link 04/2014
1	MicroRNAs (MicroRNA)IBA 03/2014
1	Transcription Factor AP-1 (Transcription Factor AP 1)IBA 03/2014
1	Soluble Guanylyl CyclaseIBA 12/2013
1	Nitric Oxide (Nitrogen Monoxide)FDA Link 12/2013
1	TubulinIBA 04/2013
1	CyclinsIBA 03/2008

Therapy/Procedure

1	Therapeutics 12/2020