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Institution
Universitätsklinikum Hamburg-Eppendorf
Zentrum für Geburtshilfe, Kinder- und Jugendmedizin
Institut für Humangenetik
Address
Martinistraße 52
20251 Hamburg
Deutschland
GERiT
This institution in GERiT
20251 Hamburg
Projects
Research Grants
Current projects
Deciphering the pathomechanism of monogenic disorders associated with pathogenic variants in C20orf204, FBXW11 and WDHD1
(Applicant
Kutsche, Kerstin
)
Developmental, brain region and cell type specific functions of the postsynaptic scaffold protein SAPAP4
(Applicant
Schob, Claudia
)
Genetic variants of the adenylyl cyclase encoding gene ADCY2 in neurodevelopmental disorders
(Applicant
Karsak, Meliha
)
Identification and functional analysis of novel disease genes for early-onset neurodevelopmental disorders
(Applicant
Harms, Frederike Leonie
)
Identification of novel causative genes for neuro-cardio-facio-cutaneous syndromes by whole exome sequencing and functional analysis of pathogenic mutations
(Applicants
Kutsche, Kerstin
;
Zenker, Martin
)
Identifying the causal genetic variants in congenital brain disorders by integrating genome and transcrip-tome sequencing
(Applicant
Kutsche, Kerstin
)
Molecular and cellular basis of Lessel-Kreienkamp syndrome, caused by pathogenic variants in AGO2
(Applicants
Kreienkamp, Hans-Jürgen
;
Lessel, Davor
)
Pathomechanisms and therapy of a human TXNIP-dependent glycogenosis
(Applicant
Schlein, Christian
)
The molecular pathogenesis of intracranial aneurysms and subarachnoid hemorrhage
(Applicants
Rosenberger, Ph.D., Georg
;
Sauvigny, Thomas
)
The RNA helicase DHX30: Physiological function and role in a neurodevelopmental disorder
(Applicants
Kreienkamp, Hans-Jürgen
;
Lessel, Davor
)
Whole-genome and RNA sequencing in 25 families with individual(s) affected by a Mendelian disorder
(Applicant
Kutsche, Kerstin
)
Completed projects
Biochemical and functional characterization of the interaction of the cannabinoid CB2
(Applicant
Karsak, Meliha
)
Detektion prämaligner Veränderungen in der tumorumgebenden Schleimhaut beim oberflächlichen Urothelkarzinom der Harnblase mittels "Differential Gene Expression"-Analyse und tumorgenetischen Untersuchungen
(Applicant
Friedrich, Martin Gunther
)
Extrasomatischer Transport und Translation von mRNA in Neuronen
(Applicant
Kindler, Stefan
)
Genetic and functional studies of the microphthalmia with linear skin defects (MLS) syndrome
(Applicant
Kutsche, Kerstin
)
Genetic and molecular network of the calcium/calmodulin-dependent serine protein kinase CASK
(Applicants
Kreienkamp, Hans-Jürgen
;
Kutsche, Kerstin
)
Genetische und pathophysiologische Grundlagen der "Rippling Muscle"-Erkrankung
(Applicant
Kubisch, Christian
)
Identification and characterisation of disease genes in early onset amyotrophic lateral sclerosis (ALS) by exome sequencing of patient-parent trios
(Applicant
Volk, Alexander
)
Identification of new monogenic disease genes by means of Next Generation Sequencing
(Applicant
Kutsche, Kerstin
)
Identifizierung des ursächlichen Gendefektes für zwei monogen vererbte Krankheiten
(Applicant
Kutsche, Kerstin
)
Identifizierung von Krankheitsgenen für monogene Erkrankungen mittels chromosomaler Rearrangements und ausgewählte funktionelle Analysen
(Applicants
Kutsche, Kerstin
;
Rosenberger, Ph.D., Georg
)
Inherited aortic disease: identification of novel disease genes and functional analysis of the molecular pathogenesis
(Applicant
Rosenberger, Ph.D., Georg
)
Klonierung und Charakterisierung des Gens für das Kufor-Rakeb-Syndrom, eine Form des Parkinsonismus mit pallido-pyramidaler Degeneration und Demenz
(Applicant
Kubisch, Christian
)
Makorin RING zinc-finger protein 1-dependent translational control of dendritic mRNAs in mammalian neurons
(Applicant
Kindler, Stefan
)
Molekulare Mechanismen der Signalvermittlung und ihre pathophysiologische Bedeutung am Beispiel der Somatostatinrezeptorfamilie
(Applicant
Richter, Dietmar
)
mRNA-Transport bei Proteinen der postsynaptischen Dichte
(Applicant
Böckers, Tobias
)
Postsynaptic Shank proteins as effectors of Ras family G-proteins
(Applicant
Kreienkamp, Hans-Jürgen
)
The role of the postsynaptic protein IRSp53 in synaptic plasticity
(Applicant
Kreienkamp, Hans-Jürgen
)
Priority Programmes
Completed projects
Analysis of novel nicotine dependence related candidate genes identified through a genome-wide association study
(Applicants
Dahmen, Norbert
;
Gal, Andreas
;
Rujescu, Dan
;
Wichmann, Heinz-Erich
)
Functional analysis of kinesin-associated RNA transport granules in neurons
(Applicants
Kindler, Stefan
;
Kreienkamp, Hans-Jürgen
)
Identification and characterization of genes for human retrocochlear hearing disorders
(Applicant
Kubisch, Christian
)
The role of DNA sequence variants in AMD: Identification and molecular genetic analysis of candidate genes
(Applicant
Gal, Andreas
)
Research Units
Completed projects
Analyse von DNA-Polymorphismen ausgewählter Kandidatengene bei der nicht-monogenen Form der Alzheimer-Demenz. Zentrale Datenbank und Gewebeproben-Ressourcen-Zentrum
(Applicant
Gal, Andreas
)
Charakteisierung dendritischer Transportproteine für die mRNA der Mikrotubulus-assoziierten Proteine
(Applicant
Kindler, Stefan
)
Genetic linkage and association studies in migraine with aura
(Applicant
Kubisch, Christian
)
Genetic linkage and association studies in migraine with aura
(Applicant
Göbel, Hartmut
)
Intrazellulärer RNA-Transport
(Applicant
Richter, Dietmar
)
IRP5: FIX proteins as regulators of receptor tyrosine kinase endocytosis and actin dynamics
(Applicant
Kutsche, Kerstin
)
Molekulare Pathomechanismen der Alzheimer-Demenz
(Applicant
Nitsch, Roger
)
Molekulargenetik der Alzheimer-Demenz
(Applicant
Finckh, Ulrich
)
mRNA-Transport bei Proteinen der postsynaptischen Dichte
(Applicant
Böckers, Tobias
)
Role of AE3 and NHE1 in cardiomyocyte homeostasis and remodeling
(Applicant
Hübner, Christian Andreas
)
Ubiquitylation and degradation of postsynaptic scaffold proteins
(Applicant
Kreienkamp, Hans-Jürgen
)
Zentralprojekt
(Applicant
Gal, Andreas
)
Clinical Research Units
Current projects
Identification of novel disease genes for monogenic forms of early-onset low BMD disorders
(Applicant
Kutsche, Kerstin
)
KFO 5029: Precision Medicine for Early-Onset Low Bone Mineral Density Disorders
(Spokesperson
Amling, Michael
)
Collaborative Research Centres
Completed projects
Alpha-PIX: ein Protein der Signaltransduktion für die neuronale Entwicklung
(Project Heads
Gal, Andreas
;
Kutsche, Kerstin
)
Funktionelle Charakterisierung humaner L1CAM-Mutationen und neuer Kandidatengene für das gesteuerte Axon-Wachstum
(Project Head
Finckh, Ulrich
)
Funktionelle Charakterisierung synapsenassoziierter Proteine (SAP)
(Project Heads
Kindler, Stefan
;
Richter, Dietmar
)
Funktionelle und genetische Charakterisierung von Plexin B3
(Project Head
Finckh, Ulrich
)
Molekulare Mechanismen der Signalvermittlung und ihre pathophysiologische Bedeutung am Beispiel der Somatostatinrezeptorfamilie
(Project Heads
Kreienkamp, Hans-Jürgen
;
Richter, Dietmar
)
Molekulare Pathobiologie der Mucopolysaccharidosen
(Project Head
Bunge, Susanna
)
Research Fellowships
Completed projects
Identification of CAKUT-associated genes using a worldwide patient-cohort and high-throughput methods for genetic analysis
(Applicant
van der Ven, Amelie
)
CRC/Transregios
Current projects
Impact of mitochondrial lipogenesis on thermogenic function and interorganelle crosstalk of brown adipocytes
(Project Head
Schlein, Christian
)
Research Training Groups
Completed projects
GRK 336: Molecular Endocrinology - Molecular Metabolism
(Spokesperson
Seitz, Hans-Joachim
)
GRK 804: Analysis of Cellular Functions by Combinatorial Chemistry and Biochemistry
(Spokesperson
Famulok, Michael
)
GRK 1459: Sorting and Interactions Between Proteins of Subcellular Compartments
(Spokesperson
Braulke, Thomas
)
Graduate Schools
Completed projects
GSC 270: International Graduate School in Molecular Medicine Ulm
(Spokesperson
Kühl, Michael
)
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