Uwe Kornak Selected Research

Levin type Osteogenesis imperfecta

6/2020

Gnathodiaphyseal dysplasia is not recapitulated in a respective mouse model carrying a mutation of the Ano5 gene.

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Uwe Kornak Research Topics

Disease

6	Osteoporosis 01/2022 - 11/2005
6	Osteopetrosis 01/2021 - 03/2005
5	Cutis Laxa 01/2021 - 01/2008
5	recessive Cutis laxa 01/2021 - 01/2008
5	Bone Resorption 02/2017 - 03/2005
3	Gerodermia osteodysplastica 10/2019 - 12/2008
2	Rare Diseases (Rare Disease) 01/2022 - 01/2020
2	Osteogenesis Imperfecta (Lobstein Disease) 01/2022 - 11/2018
2	Muscle Hypotonia (Hypotonia) 01/2021 - 11/2013
2	Catel Manzke syndrome 01/2020 - 12/2014
2	Neurofibromatosis 1 (Neurofibromatosis Type I) 07/2008 - 04/2007
2	Lysosomal Storage Diseases (Lysosomal Storage Disease) 09/2006 - 03/2005
2	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 09/2006 - 03/2005
1	Nephrocalcinosis 01/2022
1	Hypophosphatasia 01/2022
1	Epilepsy (Aura) 12/2021
1	Cognitive Dysfunction 12/2021
1	Muscle Weakness 01/2021
1	Perivascular Epithelioid Cell Neoplasms 01/2021
1	Osteoarthritis 01/2021
1	Chondrocalcinosis (Pseudogout) 01/2021
1	Contracture 01/2021
1	Muscular Diseases (Myopathy) 01/2021
1	Levin type Osteogenesis imperfecta 06/2020
1	Sclerosis 06/2020
1	Marfan Syndrome (Marfan's Syndrome) 12/2019
1	Craniofrontonasal dysplasia 09/2019
1	Acute Liver Failure (Fulminant Hepatic Failure) 07/2019
1	Ulcer 01/2019
1	Intellectual Disability (Idiocy) 01/2019
1	Hereditary Sensory and Autonomic Neuropathies (HSAN) 01/2019
1	Neurodevelopmental Disorders 01/2019
1	Stress Fractures (Stress Fracture) 01/2018
1	Short Rib-Polydactyly Syndrome 01/2018
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2018
1	Bilateral Frontoparietal Polymicrogyria 09/2017
1	Neurologic Manifestations (Neurological Manifestations) 09/2017
1	Ankylosis 01/2016
1	Autosomal Dominant Cutis Laxa 09/2015
1	Fetal Growth Retardation (Intrauterine Growth Retardation) 11/2013
1	Type IIB Autosomal Recessive Cutis Laxa 11/2013
1	Sepsis (Septicemia) 08/2013
1	Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 11/2010
1	Zlotogora-Ogur syndrome 08/2010
1	Cleft Lip (Harelip) 08/2010
1	Syndactyly (Polysyndactyly) 08/2010
1	Ectodermal Dysplasia (Aplasia Cutis Congenita) 08/2010
1	Schwartz-Lelek syndrome 04/2010
1	Conductive Hearing Loss 04/2010
1	Ghosal Hematodiaphyseal Dysplasia 03/2010
1	Primary Hypertrophic Osteoarthropathy (Hypertrophic Osteoarthropathy, Primary) 03/2010
1	Osteopoikilosis 03/2010

Drug/Important Bio-Agent (IBA)

11	Proteins (Proteins, Gene)FDA Link 01/2021 - 10/2004
4	EnzymesIBA 01/2021 - 03/2005
4	AcidsIBA 01/2020 - 05/2005
3	LigandsIBA 01/2019 - 05/2013
3	Proton-Translocating ATPases (ATPase, H+)IBA 06/2009 - 03/2005
2	alpha2 Subunit Collagen Type IIBA 01/2022 - 11/2018
2	CalciumIBA 01/2022 - 04/2014
2	Adenosine Triphosphatases (ATPase)IBA 01/2021 - 01/2017
2	Proline (L-Proline)FDA Link 01/2021 - 11/2013
2	Transcription Factors (Transcription Factor)IBA 01/2021 - 10/2004
2	Extracellular Matrix ProteinsIBA 12/2019 - 08/2011
2	Transforming Growth Factor beta (TGF-beta)IBA 12/2019 - 03/2010
2	CollagenIBA 01/2017 - 11/2010
2	Vacuolar Proton-Translocating ATPases (V-Type ATPase)IBA 04/2014 - 09/2009
1	Phosphates (Orthophosphate)IBA 01/2022
1	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 12/2021
1	Calcium PyrophosphateIBA 01/2021
1	calcium phosphateIBA 01/2021
1	AnoctaminsIBA 06/2020
1	MineralsIBA 01/2020
1	NAD (NADH)IBA 01/2020
1	DNA (Deoxyribonucleic Acid)IBA 01/2020
1	Fibrillin-1IBA 12/2019
1	Coat Protein Complex I (COPI)IBA 10/2019
1	Ephrin-B1 (Ephrin B1)IBA 09/2019
1	DystoninIBA 01/2019
1	Nonsense Codon (Nonsense Mutation)IBA 01/2019
1	Protein Isoforms (Isoforms)IBA 01/2019
1	Notch ReceptorsIBA 01/2019
1	beta-apocarotenoid-14',13'-dioxygenase (ADO)IBA 01/2018
1	Proteoglycans (Proteoglycan)IBA 01/2018
1	Phospholipids (Phosphatides)FDA LinkGeneric 01/2018
1	Biomarkers (Surrogate Marker)IBA 02/2017
1	ClathrinIBA 01/2016
1	Ornithine-Oxo-Acid Transaminase (Ornithine Aminotransferase)IBA 09/2015
1	Amino Acids FDA Link 12/2014
1	Oxidoreductases (Dehydrogenase)IBA 11/2013
1	delta-1-pyrroline-5-carboxylateIBA 11/2013
1	ElastinIBA 11/2010
1	Cell Adhesion MoleculesIBA 08/2010
1	NectinsIBA 08/2010
1	diphosphoric acid (pyrophosphoric acid)IBA 04/2010
1	Membrane Proteins (Integral Membrane Proteins)IBA 04/2010
1	EicosanoidsIBA 03/2010
1	Apolipoprotein C-IIIIBA 09/2009
1	Polysaccharides (Glycans)IBA 09/2009

Therapy/Procedure

1	Surgical Amputation (Amputations) 01/2019
1	Critical Care (Surgical Intensive Care) 08/2013