Stefan Mundlos Selected Research

Brachydactyly type C

9/2014	Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.
12/2006	A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.
12/2004	Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2.

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Stefan Mundlos Research Topics

Disease

8	Intellectual Disability (Idiocy) 01/2018 - 10/2010
6	Neurofibromatosis 1 (Neurofibromatosis Type I) 01/2015 - 04/2007
6	Brachydactyly type A2 04/2009 - 10/2003
5	Muscle Hypotonia (Hypotonia) 01/2021 - 07/2011
5	Type B1 Brachydactyly 11/2008 - 12/2004
4	Syndactyly (Polysyndactyly) 12/2021 - 03/2002
4	recessive Cutis laxa 01/2021 - 01/2008
4	type 2 Syndactyly 01/2020 - 10/2004
4	Seizures (Absence Seizure) 01/2018 - 07/2011
3	Osteoporosis 01/2022 - 12/2008
3	Hyperphosphatasia with Mental Retardation 01/2018 - 07/2012
3	Brachydactyly type C 09/2014 - 12/2004
3	Brachydactyly 11/2009 - 03/2002
3	Robinow Syndrome 11/2008 - 12/2006
2	Inborn Genetic Diseases (Disease, Hereditary) 07/2022 - 05/2008
2	Rare Diseases (Rare Disease) 01/2022 - 01/2020
2	Hypophosphatasia 01/2022 - 11/2002
2	Osteogenesis Imperfecta (Lobstein Disease) 01/2022 - 11/2018
2	Neoplasms (Cancer) 12/2021 - 07/2006
2	Cutis Laxa 01/2021 - 01/2008
2	Gerodermia osteodysplastica 01/2018 - 12/2008
2	Type E Brachydactyly 06/2015 - 07/2013
2	Polydactyly (Polydactylism) 06/2012 - 03/2002
2	Myositis Ossificans (Fibrodysplasia Ossificans Progressiva) 11/2009 - 03/2009
2	Cleidocranial Dysplasia (Cleidocranial Dysostosis) 12/2008 - 11/2002
2	Multiple pterygium syndrome 02/2008 - 08/2006
2	Marfan Syndrome (Marfan's Syndrome) 02/2006 - 01/2005
1	Vocal cord dysfunction familial 07/2022
1	Autistic Disorder (Autism) 01/2022
1	Colorectal Neoplasms (Colorectal Cancer) 12/2021
1	Cognitive Dysfunction 12/2021
1	Epilepsy (Aura) 12/2021
1	Muscular Diseases (Myopathy) 01/2021
1	Contracture 01/2021
1	Muscle Weakness 01/2021
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 11/2020
1	Acute Liver Failure (Fulminant Hepatic Failure) 07/2019
1	Nasodigitoacoustic syndrome 01/2019
1	Hypoventilation 12/2018
1	Short Rib-Polydactyly Syndrome 01/2018
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2018
1	Insulin Resistance 12/2017
1	Hearing Loss (Hearing Impairment) 02/2016
1	Malformed Nails (Pachyonychia) 02/2016
1	Ankylosis 01/2016
1	Autosomal Dominant Cutis Laxa 09/2015
1	Acrocephalosyndactylia (Apert Syndrome) 08/2015
1	Stroke (Strokes) 06/2015
1	Hypertension (High Blood Pressure) 06/2015
1	Adenoma (Adenomas) 01/2015
1	Hyperplasia 01/2015
1	Catel Manzke syndrome 12/2014
1	Usher Syndromes (Usher Syndrome) 09/2014
1	MASS syndrome 09/2014
1	Type IIB Autosomal Recessive Cutis Laxa 11/2013

Drug/Important Bio-Agent (IBA)

11	Proteins (Proteins, Gene)FDA Link 12/2021 - 10/2004
8	Alkaline PhosphataseIBA 01/2018 - 11/2002
6	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 12/2021 - 02/2012
5	DNA (Deoxyribonucleic Acid)IBA 07/2022 - 06/2012
5	LigandsIBA 11/2009 - 12/2004
5	Bone Morphogenetic Proteins (Bone Morphogenetic Protein)IBA 11/2009 - 10/2003
4	EnzymesIBA 01/2021 - 01/2018
4	Transcription Factors (Transcription Factor)IBA 12/2018 - 11/2002
4	Neurofibromin 1 (Neurofibromin)IBA 01/2015 - 04/2007
4	bis(diazo)benzidine (BDB)IBA 05/2008 - 12/2004
3	Amino Acids FDA Link 08/2015 - 07/2010
3	polyalanineIBA 06/2010 - 03/2002
3	Receptor Protein-Tyrosine Kinases (Tyrosine Kinase Receptors)IBA 11/2008 - 12/2004
2	alpha2 Subunit Collagen Type IIBA 01/2022 - 11/2018
2	Proline (L-Proline)FDA Link 01/2021 - 11/2013
2	Retinaldehyde (Retinal)IBA 11/2020 - 07/2011
2	Alanine (L-Alanine)FDA Link 01/2020 - 10/2004
2	Proteoglycans (Proteoglycan)IBA 01/2018 - 07/2011
2	Oxidoreductases (Dehydrogenase)IBA 11/2013 - 07/2010
2	Nonsense Codon (Nonsense Mutation)IBA 09/2013 - 11/2009
2	Serine (L-Serine)FDA Link 11/2009 - 03/2009
2	Glycine (Aminoacetic Acid)FDA LinkGeneric 11/2009 - 03/2009
2	Proton-Translocating ATPases (ATPase, H+)IBA 06/2009 - 01/2008
2	Cholinergic ReceptorsIBA 02/2008 - 08/2006
2	CollagenIBA 07/2006 - 05/2005
2	Fibrillin-1IBA 02/2006 - 01/2005
1	ChromatinIBA 01/2022
1	Protein SIBA 12/2021
1	Adenosine Triphosphatases (ATPase)IBA 01/2021
1	GlypicansIBA 01/2019
1	Phospholipids (Phosphatides)FDA LinkGeneric 01/2018
1	Pharmaceutical PreparationsIBA 12/2017
1	Protein Kinases (Protein Kinase)IBA 02/2016
1	ClathrinIBA 01/2016
1	Ornithine-Oxo-Acid Transaminase (Ornithine Aminotransferase)IBA 09/2015
1	SaltsIBA 06/2015
1	Type 3 Cyclic Nucleotide PhosphodiesterasesIBA 06/2015
1	Hydrocortisone (Cortisol)FDA LinkGeneric 01/2015
1	Adrenocorticotropic Hormone (ACTH)FDA Link 01/2015
1	NucleotidesIBA 09/2014
1	GPI-Linked ProteinsIBA 02/2014
1	delta-1-pyrroline-5-carboxylateIBA 11/2013
1	Carbohydrate SulfotransferasesIBA 11/2013

Therapy/Procedure

2	Sutures (Suture) 10/2017 - 11/2002
1	Therapeutics 12/2021