Dagmar Wieczorek Selected Research

Mandibulofacial Dysostosis (Treacher Collins Syndrome)

5/2015	Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
9/2014	Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
11/2012	Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.
2/2012	Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
1/2011	Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

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!

Dagmar Wieczorek Research Topics

Disease

10	Intellectual Disability (Idiocy) 01/2021 - 11/2010
5	Microcephaly 05/2018 - 02/2012
5	Mandibulofacial Dysostosis (Treacher Collins Syndrome) 05/2015 - 01/2011
4	Neurodevelopmental Disorders 01/2021 - 01/2017
3	Neoplasms (Cancer) 06/2022 - 01/2014
2	Inborn Genetic Diseases (Disease, Hereditary) 10/2022 - 01/2017
2	Epilepsy (Aura) 01/2022 - 11/2010
2	Systemic Lupus Erythematosus (Libman-Sacks Disease) 11/2021 - 05/2010
2	Inflammation (Inflammations) 11/2021 - 09/2020
2	Muscle Hypotonia (Hypotonia) 01/2021 - 01/2020
2	De Lange Syndrome (Cornelia De Lange Syndrome) 01/2021 - 01/2017
2	Obesity 01/2021 - 10/2006
2	Ataxia (Dyssynergia) 01/2020 - 01/2017
2	Cognitive Dysfunction 01/2020 - 01/2018
2	Coffin-Siris syndrome 01/2019 - 01/2018
2	Dystonia (Limb Dystonia) 02/2017 - 01/2017
2	Polydactyly (Polydactylism) 05/2014 - 01/2010
2	Noonan Syndrome (Female Pseudo-Turner Syndrome) 03/2010 - 10/2007
1	Partial Epilepsies (Epilepsy, Partial) 01/2022
1	Neuroblastoma 01/2022
1	Viral Encephalitis 01/2022
1	Autoimmune Diseases (Autoimmune Disease) 11/2021
1	type 1 familial Hypocalciuric hypercalcemia 01/2021
1	KBG syndrome 01/2021
1	Hyperparathyroidism 01/2021
1	Acute Kidney Injury (Acute Renal Failure) 09/2020
1	Cholestasis 01/2020
1	Deglutition Disorders (Dysphagia) 01/2020
1	Dysarthria (Spastic Dysarthria) 01/2020
1	Fecal Incontinence 01/2020
1	Fever (Fevers) 01/2020
1	Necrosis 01/2020
1	Optic Atrophy 01/2020
1	Infantile Spasms (West Syndrome) 01/2020
1	Tremor (Tremors) 01/2020
1	Iron Overload 01/2020
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2020
1	Hyperammonemia 01/2020
1	Hypertension (High Blood Pressure) 01/2019
1	Cakut 01/2019
1	Urinary Tract Infections (Urinary Tract Infection) 01/2019
1	Myelodysplastic Syndromes (Myelodysplastic Syndrome) 11/2018
1	Residual Neoplasm 11/2018
1	Acute Myeloid Leukemia (Acute Myelogenous Leukemia) 11/2018
1	Wilms Tumor (Wilm's Tumor) 11/2018
1	Channelopathies 09/2018
1	Seizures (Absence Seizure) 01/2018
1	Growth Disorders 01/2018
1	Developmental Disabilities (Developmental Disability) 01/2018
1	Leukemia 02/2017
1	Genomic Instability 02/2017
1	Pneumonia (Pneumonitis) 01/2017

Drug/Important Bio-Agent (IBA)

11	Proteins (Proteins, Gene)FDA Link 01/2020 - 10/2007
4	ChromatinIBA 01/2021 - 01/2017
2	Ion Channels (Ion Channel)IBA 01/2021 - 09/2018
2	CalciumIBA 01/2021 - 08/2013
2	RNA Precursors (Precursor, mRNA)IBA 01/2019 - 11/2012
2	Histones (Histone)IBA 01/2018 - 02/2017
2	Messenger RNA (mRNA)IBA 01/2018 - 09/2014
2	Histone MethyltransferasesIBA 02/2017 - 01/2017
2	DNA-Directed RNA Polymerases (RNA Polymerase)IBA 05/2015 - 01/2011
2	Amino Acids FDA Link 12/2014 - 01/2011
2	Serine (L-Serine)FDA Link 09/2014 - 03/2010
2	EnzymesIBA 09/2014 - 09/2012
2	Nonsense Codon (Nonsense Mutation)IBA 06/2011 - 11/2010
1	EndocannabinoidsIBA 10/2022
1	Oncogene Proteins (Oncogene Protein)IBA 06/2022
1	ran-binding protein 2IBA 01/2022
1	Sodium Channel BlockersIBA 01/2022
1	Tetrodotoxin (Tetradotoxin)IBA 01/2022
1	AutoantigensIBA 11/2021
1	2- amino- 1- methyl- 6- phenylimidazo(4,5- b)pyridineIBA 01/2021
1	Protons (Proton)IBA 01/2021
1	AnionsIBA 01/2021
1	Calcium-Sensing ReceptorsIBA 01/2021
1	myo-inositol-1 (or 4)-monophosphatase (inositol monophosphatase)IBA 01/2021
1	Macrophage Migration-Inhibitory FactorsIBA 09/2020
1	Membrane LipidsIBA 01/2020
1	choline transporterIBA 01/2020
1	Carbonic Anhydrases (Carbonic Anhydrase)IBA 01/2020
1	Choline (Choline Chloride)IBA 01/2020
1	GTPase-Activating Proteins (GTPase-Activating Protein)IBA 01/2020
1	Fragile X Mental Retardation ProteinIBA 01/2020
1	ElectrolytesIBA 01/2019
1	RNA Splicing FactorsIBA 01/2019
1	Nucleosomes (Nucleosome)IBA 01/2019
1	RNA Splice SitesIBA 05/2018
1	DNA (Deoxyribonucleic Acid)IBA 01/2018
1	Pharmaceutical PreparationsIBA 01/2018
1	Glutamine (L-Glutamine)FDA Link 01/2018
1	Valproic Acid (Depakote)FDA LinkGeneric 01/2018
1	Lysine (L-Lysine)FDA Link 02/2017
1	treosulfanIBA 01/2017
1	fludarabineIBA 01/2017
1	CohesinsIBA 01/2017
1	Thiotepa (Triethylenethiophosphoramide)FDA LinkGeneric 01/2017

Therapy/Procedure

2	Hematopoietic Stem Cell Transplantation 11/2018 - 01/2017
1	Therapeutics 06/2022
1	Ligation 01/2020
1	Stem Cell Transplantation 11/2018