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Gudrun Nürnberg Selected Research

Proteins (Proteins, Gene)

1/2018A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
9/2015Mutations in CDK5RAP2 cause Seckel syndrome.
2/2015OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
11/2012A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
7/2011Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
5/2011Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
6/2010PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
11/2009Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
4/2008Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping.
4/2008Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.
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Gudrun Nürnberg Research Topics

Disease

9Hearing Loss (Hearing Impairment)
01/2018 - 02/2011
5Ciliopathies
02/2016 - 04/2008
5Intellectual Disability (Idiocy)
07/2013 - 04/2009
4Deafness (Deaf Mutism)
01/2018 - 12/2010
4Cataract (Cataracts)
09/2012 - 03/2008
3Ataxia (Dyssynergia)
02/2014 - 09/2012
2Autosomal Recessive Primary Microcephaly
09/2015 - 11/2014
2Thrombosis (Thrombus)
05/2013 - 01/2009
2Nonsyndromic Deafness
11/2012 - 04/2008
2Usher Syndromes (Usher Syndrome)
09/2012 - 06/2010
2Retinitis Pigmentosa (Pigmentary Retinopathy)
09/2012 - 06/2007
2Nephrotic Syndrome (Syndrome, Nephrotic)
05/2011 - 12/2006
1Facial Paralysis (Facial Palsy)
10/2017
1Inborn Genetic Diseases (Disease, Hereditary)
10/2017
1Neoplasms (Cancer)
10/2017
1Spinal Muscular Atrophy (Progressive Muscular Atrophy)
01/2017
1Peroxisome biogenesis disorders
02/2016
1Leukoencephalopathies
02/2016
1Malformed Nails (Pachyonychia)
02/2016
1Juvenile Amyotrophic Lateral Sclerosis 2
01/2016
1Dwarfism
12/2014
1Mandibulofacial Dysostosis (Treacher Collins Syndrome)
09/2014
1Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
10/2013
1Congenital Disorders of Glycosylation
10/2013
1Alacrima
10/2013
1Esophageal Achalasia (Megaesophagus)
10/2013
1Exfoliative Dermatitis (Erythroderma)
09/2013
1Ichthyosis (Xeroderma)
09/2013
1Muscular Diseases (Myopathy)
07/2013
1Hyperkinesis
07/2013
1Blepharophimosis
12/2012
1Angelman Syndrome (Syndrome, Angelman)
12/2012
1Nervous System Diseases (Neurological Disorders)
11/2012
1Microcephaly
11/2012
1Ter Haar syndrome
11/2012
1Craniosynostoses (Craniosynostosis)
11/2012
1Polyneuropathies (Polyneuropathy)
09/2012
1Mitochondrial Diseases (Mitochondrial Disease)
05/2012
1Dystonia (Limb Dystonia)
05/2012
1Peripheral Nervous System Diseases (PNS Diseases)
05/2012
1Optic Atrophy
05/2012
1Hepatolenticular Degeneration (Wilson's Disease)
01/2012
1Menkes Kinky Hair Syndrome (Menkes Disease)
01/2012
1Larsen-Like Syndrome
07/2011
1Joint Dislocations
07/2011
1Cicatrix (Scar)
07/2011
1Autosomal Recessive 42 Deafness
02/2011
1Jervell-Lange Nielsen Syndrome (Jervell and Lange-Nielsen Syndrome)
01/2011

Drug/Important Bio-Agent (IBA)

12Proteins (Proteins, Gene)FDA Link
01/2018 - 06/2007
10Nonsense Codon (Nonsense Mutation)IBA
01/2018 - 03/2008
5Retinaldehyde (Retinal)IBA
02/2016 - 06/2007
3Transcription Factors (Transcription Factor)IBA
07/2010 - 08/2007
2Amino AcidsFDA Link
10/2017 - 06/2007
2EnzymesIBA
10/2013 - 09/2012
2LipidsIBA
09/2013 - 09/2012
2CholesterolIBA
12/2012 - 05/2002
1RNA-Directed DNA Polymerase (Reverse Transcriptase)IBA
01/2018
1TubulinIBA
10/2017
1Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA
10/2017
1NeurocalcinIBA
01/2017
1Phytanic AcidIBA
02/2016
1Protein Kinases (Protein Kinase)IBA
02/2016
1MorpholinosIBA
05/2015
1Phosphotransferases (Kinase)IBA
12/2014
1Centrosomal Associated ProteinsIBA
11/2014
1Messenger RNA (mRNA)IBA
09/2014
1Glycoproteins (Glycoprotein)IBA
10/2013
1mannose 1-phosphate guanylyltransferaseIBA
10/2013
1Dystroglycans (Dystroglycan)IBA
10/2013
1Polysaccharides (Glycans)IBA
10/2013
1Guanosine Diphosphate Mannose (GDP Mannose)IBA
10/2013
1GlycolipidsIBA
10/2013
1Guanosine Diphosphate (GDP)IBA
10/2013
1Collodion (Nitrocellulose)IBA
09/2013
1SphingolipidsIBA
09/2013
1CeramidesIBA
09/2013
1Carrier Proteins (Binding Protein)IBA
07/2013
1Protein Kinase CIBA
05/2013
1Arachidonic Acid (Vitamin F)IBA
05/2013
1DiglyceridesIBA
05/2013
1Ligases (Synthetase)IBA
12/2012
1UbiquitinIBA
12/2012
1RNA Splice SitesIBA
12/2012
1RNA (Ribonucleic Acid)IBA
12/2012
1Eukaryotic Initiation Factor-2 (EIF 2)IBA
11/2012
1ribonuclease PH (RNase PH)IBA
11/2012
1Mitochondrial RNAIBA
11/2012
1EndocannabinoidsIBA
09/2012
1Creatine Kinase (Creatine Phosphokinase)IBA
05/2012
1IronIBA
05/2012
1Blood Group Antigens (Blood Groups)IBA
02/2012
1Familial apoceruloplasmin deficiencyIBA
01/2012
1Ceruloplasmin (Ferroxidase)IBA
01/2012
1CopperIBA
01/2012
1Proteoglycans (Proteoglycan)IBA
07/2011
1Wiskott-Aldrich Syndrome ProteinIBA
07/2011
1ubiquinone 6IBA
05/2011
1Coenzymes (Enzyme Cofactors)IBA
05/2011
1Initiator Codon (Start Codon)IBA
02/2011

Therapy/Procedure

1Sutures (Suture)
11/2012