Christian T Thiel Selected Research

Type II Microcephalic Osteodysplastic Primordial Dwarfism

6/2011	The smallest teeth in the world are caused by mutations in the PCNT gene.
2/2008	Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.

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Christian T Thiel Research Topics

Disease

4	Neoplasms (Cancer) 01/2019 - 09/2007
2	Neurodevelopmental Disorders 01/2021 - 01/2020
2	Epilepsy (Aura) 11/2020 - 02/2019
2	Cognitive Dysfunction 11/2020 - 01/2017
2	Microcephaly 12/2018 - 01/2015
2	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 12/2018 - 02/2003
2	Ciliopathies 01/2018 - 08/2015
2	Dwarfism 01/2015 - 02/2008
2	Hyperglycemia 06/2013 - 07/2008
2	Type II Microcephalic Osteodysplastic Primordial Dwarfism 06/2011 - 02/2008
1	Parkinsonian Disorders (Parkinsonism) 01/2021
1	Polymicrogyria 11/2020
1	Muscle Hypotonia (Hypotonia) 09/2020
1	Ataxia (Dyssynergia) 09/2020
1	Central Hearing Loss 09/2020
1	Pathologic Nystagmus 09/2020
1	Inflammation (Inflammations) 01/2020
1	Myeloperoxidase Deficiency 01/2020
1	Skin Diseases (Skin Disease) 01/2020
1	Psoriasis (Pustulosis Palmaris et Plantaris) 01/2020
1	Wilms Tumor (Wilm's Tumor) 01/2019
1	Type 2B2 Charcot-Marie-Tooth disease 12/2018
1	autosomal recessive 1 Spinocerebellar ataxia 12/2018
1	Seizures (Absence Seizure) 12/2018
1	Breast Neoplasms (Breast Cancer) 09/2018
1	Coffin-Siris syndrome 01/2018
1	Developmental Disabilities (Developmental Disability) 01/2018
1	Cicatrix (Scar) 01/2017
1	Cardiomyopathies (Cardiomyopathy) 01/2016
1	Muscular Dystrophies (Muscular Dystrophy) 01/2016
1	Muscular Diseases (Myopathy) 01/2016
1	Autosomal Recessive Epidermolysis Bullosa Simplex 01/2016
1	Epidermolysa bullosa simplex and limb girdle muscular dystrophy 01/2016
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 08/2015
1	Microsatellite Instability 03/2015
1	Megalencephaly 11/2013
1	Insulin Resistance 06/2013
1	Testicular Neoplasms (Testicular Cancer) 11/2011
1	Hyperinsulinism (Hyperinsulinemia) 07/2008
1	Donohue Syndrome 07/2008
1	Developmental Bone Diseases (Bone Dysplasia) 09/2007
1	Achondrogenesis 07/2007
1	Achondrogenesis type 1A 07/2007
1	Cartilage-hair hypoplasia 11/2005
1	Anauxetic dysplasia 11/2005
1	Hereditary Sensory and Motor Neuropathy (Dejerine Sottas Disease) 02/2003

Drug/Important Bio-Agent (IBA)

10	Proteins (Proteins, Gene)FDA Link 01/2020 - 07/2007
3	pericentrinIBA 01/2018 - 02/2008
2	Insulin (Novolin)FDA Link 06/2013 - 07/2008
2	mitochondrial RNA-processing endoribonuclease (RNAse MRP)IBA 09/2007 - 11/2005
2	Messenger RNA (mRNA)IBA 09/2007 - 11/2005
1	Levodopa (L Dopa)FDA LinkGeneric 01/2021
1	Extracellular Matrix ProteinsIBA 11/2020
1	Laminin (Merosin)IBA 11/2020
1	Peroxidase (Myeloperoxidase)IBA 01/2020
1	Peptide Hydrolases (Proteases)FDA Link 01/2020
1	CytokinesIBA 01/2020
1	EnzymesIBA 01/2020
1	Vitamin B 6IBA 02/2019
1	Anticonvulsants (Antiepileptic Drugs)IBA 02/2019
1	DNA (Deoxyribonucleic Acid)IBA 01/2019
1	A-Form DNA (A-DNA)IBA 12/2018
1	Polynucleotide 5'-Hydroxyl-Kinase (Kinase, Polynucleotide)IBA 12/2018
1	Indicators and Reagents (Reagents)IBA 09/2018
1	Histones (Histone)IBA 01/2018
1	ChromatinIBA 01/2018
1	Wiskott-Aldrich Syndrome ProteinIBA 01/2017
1	Valosin Containing ProteinIBA 01/2017
1	PlectinIBA 01/2016
1	Protein AggregatesIBA 01/2016
1	DesminIBA 01/2016
1	UbiquitinIBA 08/2015
1	Retinaldehyde (Retinal)IBA 08/2015
1	RNA Precursors (Precursor, mRNA)IBA 08/2015
1	G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA 08/2015
1	Proteasome Endopeptidase Complex (Proteasome)IBA 08/2015
1	Centrosomal Associated ProteinsIBA 01/2015
1	Semaphorin-3AIBA 11/2013
1	Blood Glucose (Blood Sugar)IBA 06/2013
1	AntigensIBA 11/2011
1	Insulin ReceptorIBA 07/2008
1	Aggrecans (Aggrecan)IBA 07/2007
1	CollagenIBA 07/2007
1	Matrilin ProteinsIBA 07/2007
1	Ribosomal RNAIBA 11/2005
1	CyclinsIBA 11/2005
1	Myelin ProteinsIBA 02/2003

Therapy/Procedure

1	Telescopes 09/2020
1	Glycemic Control 06/2013