Andreas R Janecke Selected Research

Microvillus inclusion disease

1/2022	UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
8/2021	Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.
4/2021	Advanced Microscopy for Liver and Gut Ultrastructural Pathology in Patients with MVID and PFIC Caused by MYO5B Mutations.
11/2015	Cargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3.
7/2014	Loss of syntaxin 3 causes variant microvillus inclusion disease.
1/2014	Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity.
10/2008	MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.

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Andreas R Janecke Research Topics

Disease

16	Diarrhea 01/2022 - 02/2009
7	Microvillus inclusion disease 01/2022 - 10/2008
4	Retinal Dystrophies 08/2021 - 08/2004
4	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 01/2016 - 07/2007
4	Iron Overload 11/2015 - 11/2010
4	Ichthyosis Vulgaris (Dominant Ichthyosis Vulgaris) 05/2011 - 02/2007
3	Ciliopathies 10/2014 - 12/2011
3	Atypical Hemolytic Uremic Syndrome 03/2013 - 01/2009
3	Atopic Dermatitis (Atopic Eczema) 05/2011 - 05/2007
2	Intellectual Disability (Idiocy) 10/2021 - 02/2005
2	Liver Diseases (Liver Disease) 01/2021 - 11/2015
2	Congenital Disorders of Glycosylation 01/2020 - 01/2010
2	Liver Failure 01/2020 - 01/2013
2	Neoplasms (Cancer) 01/2019 - 03/2010
2	Inborn Genetic Diseases (Disease, Hereditary) 08/2016 - 01/2010
2	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 01/2016 - 01/2016
2	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2016 - 10/2012
2	Movement Disorders (Movement Disorder) 01/2015 - 12/2010
2	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 09/2013 - 06/2008
2	Hyperferritinemia 06/2011 - 11/2010
2	musculocontractural type 1 Ehlers-Danlos Syndrome 04/2011 - 12/2009
2	Retinal Degeneration 12/2010 - 12/2005
1	Early Onset Severe Retinal Dystrophy 08/2021
1	Intestinal Diseases (Diseases, Intestinal) 01/2021
1	Seizures (Absence Seizure) 01/2021
1	Hyperbilirubinemia 01/2020
1	Microcephaly 01/2020
1	Type II Microcephalic Osteodysplastic Primordial Dwarfism 01/2020
1	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2020
1	Carcinogenesis 01/2019
1	Hepatocellular Carcinoma (Hepatoma) 01/2019
1	Imperforate Anus 03/2018
1	Intestinal Failure 01/2018
1	Protein-Losing Enteropathies (Protein-Losing Enteropathy) 01/2018
1	Vomiting 01/2018
1	Hypoalbuminemia 01/2018
1	Arthrogryposis 01/2017
1	Sclerosing Cholangitis 01/2017
1	Deafness (Deaf Mutism) 01/2017
1	Nephrotic Syndrome (Syndrome, Nephrotic) 01/2017
1	Desbuquois syndrome 01/2017
1	Aagenaes syndrome 01/2017
1	Ichthyosis (Xeroderma) 01/2017
1	Joint Instability (Joint Laxity) 01/2017
1	Lymphedema (Milroy Disease) 01/2017
1	Muscle Hypotonia (Hypotonia) 01/2017
1	Atrophy 01/2017
1	Obesity 04/2016
1	Developmental Bone Diseases (Bone Dysplasia) 01/2016
1	Osteogenesis Imperfecta (Lobstein Disease) 01/2016

Drug/Important Bio-Agent (IBA)

15	Proteins (Proteins, Gene)FDA Link 04/2021 - 12/2005
10	SodiumIBA 01/2022 - 02/2009
5	Myosins (Myosin)IBA 01/2022 - 10/2008
5	Retinaldehyde (Retinal)IBA 10/2021 - 12/2005
5	Filaggrin ProteinsIBA 05/2011 - 02/2007
4	EnzymesIBA 01/2017 - 08/2004
3	HepcidinsIBA 11/2015 - 12/2010
3	Dermatan SulfateIBA 09/2013 - 12/2009
3	Transferrin (beta 2 Transferrin)IBA 10/2012 - 11/2010
3	IronIBA 06/2011 - 11/2010
2	ElectrolytesIBA 10/2020 - 01/2016
2	Polysaccharides (Glycans)IBA 01/2020 - 01/2010
2	Serine Proteinase Inhibitors (Serine Protease Inhibitors)IBA 01/2019 - 03/2018
2	DNA (Deoxyribonucleic Acid)IBA 01/2018 - 02/2005
2	Nonsense Codon (Nonsense Mutation)IBA 01/2017 - 09/2008
2	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 08/2016 - 08/2015
2	Qa-SNARE Proteins (Syntaxin)IBA 11/2015 - 07/2014
2	Complement Factor H (Factor H)IBA 03/2013 - 08/2009
2	metal transporting protein 1 (ferroportin)IBA 06/2011 - 11/2010
2	retinol dehydrogenaseIBA 12/2005 - 08/2004
2	Connexin 26IBA 12/2005 - 08/2002
1	ChloridesIBA 11/2021
1	Enterotoxin ReceptorsIBA 11/2021
1	Cystic Fibrosis Transmembrane Conductance Regulator (Protein, CFTR)IBA 11/2021
1	Epithelial Cell Adhesion MoleculeIBA 06/2021
1	gamma-Glutamyltransferase (gamma-Glutamyl Transpeptidase)IBA 01/2020
1	Initiator Codon (Start Codon)IBA 01/2020
1	pericentrinIBA 01/2020
1	matriptaseIBA 01/2019
1	Mitochondrial DNA (mtDNA)IBA 01/2019
1	prostasinIBA 01/2019
1	DiglyceridesIBA 01/2018
1	Triglycerides (Triacylglycerol)IBA 01/2018
1	Diacylglycerol O-AcyltransferaseIBA 01/2018
1	Acyl Coenzyme A (Acyl CoA)IBA 01/2018
1	GlycosaminoglycansIBA 01/2017
1	sphingosine 1-phosphate lyase (aldolase)IBA 01/2017
1	chondroitin sulfate N-acetylgalactosaminyltransferase-1IBA 01/2017
1	Proprotein Convertase 1IBA 04/2016
1	CollagenIBA 01/2016
1	Amino Acids FDA Link 01/2016
1	Myelin P2 ProteinIBA 01/2016
1	Sodium-Hydrogen ExchangersIBA 01/2016
1	Protons (Proton)IBA 12/2015
1	Soluble N-Ethylmaleimide-Sensitive Factor Attachment ProteinsIBA 11/2015
1	Ligases (Synthetase)IBA 08/2015

Therapy/Procedure

2	Transplantation 01/2021 - 01/2013
2	Liver Transplantation 01/2019 - 01/2013
1	Drug Therapy (Chemotherapy) 01/2021
1	Parenteral Nutrition 01/2021