Janine Altmüller Selected Research

Ligases (Synthetase)

10/2022	WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
1/2016	TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
12/2012	Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

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Janine Altmüller Research Topics

Disease

24	Neoplasms (Cancer) 01/2023 - 01/2015
7	Epilepsy (Aura) 01/2023 - 07/2014
5	Breast Neoplasms (Breast Cancer) 07/2022 - 01/2016
5	Intellectual Disability (Idiocy) 01/2022 - 11/2012
5	Asthma (Bronchial Asthma) 03/2007 - 05/2003
4	Neuroblastoma 01/2023 - 08/2015
4	Microcephaly 10/2022 - 11/2012
4	Ataxia (Dyssynergia) 12/2021 - 07/2013
4	Carcinoma (Carcinomatosis) 01/2020 - 07/2015
3	Focal Segmental Glomerulosclerosis (Glomerulosclerosis, Focal) 02/2023 - 03/2016
3	B-Cell Chronic Lymphocytic Leukemia (Chronic Lymphocytic Leukemia) 01/2023 - 01/2018
3	COVID-19 12/2022 - 01/2021
3	Ovarian Neoplasms (Ovarian Cancer) 01/2022 - 01/2019
3	T-Cell Prolymphocytic Leukemia (Leukemia, T Cell, Chronic) 01/2022 - 01/2020
3	Adenoma (Adenomas) 01/2021 - 07/2015
3	Seizures (Absence Seizure) 02/2020 - 07/2014
3	Ciliopathies 11/2019 - 10/2014
3	Hearing Loss (Hearing Impairment) 10/2019 - 05/2011
3	Triple Negative Breast Neoplasms 01/2018 - 01/2016
3	Genomic Instability 01/2018 - 07/2015
3	Pain (Aches) 01/2018 - 01/2013
3	Dwarfism 04/2017 - 12/2014
3	Lung Neoplasms (Lung Cancer) 07/2015 - 12/2010
2	Kidney Diseases (Kidney Disease) 02/2023 - 01/2022
2	Hippocampal Sclerosis 01/2023 - 01/2016
2	Congenital Disorders of Glycosylation 01/2023 - 10/2013
2	Neurodevelopmental Disorders 01/2023 - 07/2014
2	Bartter Syndrome (Syndrome, Bartter) 10/2022 - 05/2016
2	Melanoma (Melanoma, Malignant) 10/2022 - 05/2016
2	Chromothripsis 12/2021 - 08/2015
2	Autism Spectrum Disorder 10/2021 - 07/2014
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2021 - 10/2017
2	Lymphoma (Lymphomas) 01/2021 - 10/2020
2	Dystonia (Limb Dystonia) 10/2019 - 08/2019
2	Liver Cirrhosis (Hepatic Cirrhosis) 10/2019 - 02/2013
2	Cardiomyopathies (Cardiomyopathy) 01/2019 - 01/2018
2	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2018 - 11/2015
2	Mitochondrial Diseases (Mitochondrial Disease) 01/2018 - 01/2016
2	Obesity 12/2017 - 04/2017
2	Dowling-Degos Disease 04/2017 - 01/2014
2	Colorectal Neoplasms (Colorectal Cancer) 01/2017 - 07/2015
2	Adenocarcinoma of Lung 10/2016 - 12/2010
2	Disease Progression 10/2015 - 08/2009
2	Schizophrenia (Dementia Praecox) 07/2014 - 05/2003
1	Hemophilia A (Haemophilia) 01/2024
1	DNA Repair-Deficiency Disorders (Chromosome Instability Syndromes) 11/2023
1	Proteinuria 02/2023
1	T-Cell Leukemia (Leukemia, T Cell) 01/2023
1	type 3 Bartter syndrome 01/2023
1	Craniosynostoses (Craniosynostosis) 01/2023

Drug/Important Bio-Agent (IBA)

15	Proteins (Proteins, Gene)FDA Link 02/2023 - 05/2011
10	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 05/2003
5	MicroRNAs (MicroRNA)IBA 01/2024 - 02/2013
5	RNA (Ribonucleic Acid)IBA 12/2022 - 01/2015
4	Estrogen ReceptorsIBA 07/2022 - 01/2018
3	NucleotidesIBA 01/2023 - 01/2021
3	Ligases (Synthetase)IBA 10/2022 - 12/2012
3	AntigensIBA 10/2022 - 05/2016
3	Retinaldehyde (Retinal)IBA 04/2022 - 10/2014
3	ADP-ribosylarginine hydrolaseIBA 12/2021 - 01/2018
3	Cell-Free Nucleic AcidsIBA 10/2021 - 01/2020
3	ORALIT (ORS)IBA 01/2018 - 01/2017
3	Odorant Receptors (Odorant Receptor)IBA 01/2018 - 01/2013
3	Immunoglobulin E (IgE)IBA 07/2014 - 01/2005
3	Nonsense Codon (Nonsense Mutation)IBA 10/2013 - 05/2011
2	CohesinsIBA 11/2023 - 01/2022
2	Anaplastic Lymphoma KinaseIBA 01/2023 - 12/2010
2	Transfer RNA (tRNA)IBA 10/2022 - 02/2015
2	Telomerase (Telomerase Reverse Transcriptase)IBA 09/2022 - 10/2015
2	Transcription Factors (Transcription Factor)IBA 01/2022 - 01/2018
2	T-Cell Antigen Receptors (T-Cell Receptor)IBA 01/2022 - 01/2020
2	osimertinibIBA 12/2021 - 10/2016
2	SaltsIBA 11/2021 - 05/2016
2	Protein Isoforms (Isoforms)IBA 10/2021 - 01/2018
2	venetoclaxIBA 01/2021 - 01/2018
2	Phosphotransferases (Kinase)IBA 12/2020 - 12/2014
2	Immunoglobulin D (IgD)IBA 10/2019 - 08/2019
2	Trihexyphenidyl (Artane)FDA LinkGeneric 10/2019 - 08/2019
2	PotassiumIBA 01/2019 - 01/2018
2	Histones (Histone)IBA 01/2019 - 01/2018
2	CholesterolIBA 11/2018 - 12/2012
2	ChromatinIBA 01/2018 - 03/2014
2	Mitochondrial DNA (mtDNA)IBA 01/2018 - 01/2016
2	Ion Channels (Ion Channel)IBA 11/2017 - 01/2013
2	Amino Acids FDA Link 10/2017 - 12/2014
2	Dichlorodiphenyldichloroethane (DDD)IBA 04/2017 - 01/2014
2	GlucosyltransferasesIBA 04/2017 - 01/2014
2	UbiquitinIBA 01/2016 - 12/2012
2	EnzymesIBA 10/2013 - 04/2006
2	Vitamin D FDA LinkGeneric 03/2007 - 04/2006
1	Factor VIII (Coagulation Factor VIII)IBA 01/2024
1	Cyclosporine (Ciclosporin)FDA LinkGeneric 02/2023
1	Lysine (L-Lysine)FDA Link 01/2023
1	Molecular Chaperones (Chaperone, Molecular)IBA 01/2023
1	plastinIBA 01/2023
1	Chloride Channels (Chloride Channel)IBA 01/2023

Therapy/Procedure

10	Therapeutics 01/2022 - 07/2015
3	Drug Therapy (Chemotherapy) 01/2022 - 08/2019
2	Aftercare (After-Treatment) 10/2021 - 10/2016
1	Investigational Therapies (Experimental Therapy) 01/2024