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Institution
Universitätsklinikum Essen
Institut für Humangenetik
Address
45122 Essen
Deutschland
GERiT
This institution in GERiT
45122 Essen
Projects
Priority Programmes
Completed projects
Gene and imprinting defects in patients with Prader-Willi and Angelman syndrome
(Applicant
Buiting, Karin
)
Identifizierung von Genen, die bei den Tricho-Rhino-Phalangeal-Syndromen (TRPS I und TRPS II) eine Rolle spielen
(Applicant
Horsthemke, Bernhard
)
Identifizierung von Genen und regulatorischen Elementen, die beim Prader-Willi-Syndrom (PWS) und beim Angelman-Syndrom (AS) eine Rolle spielen
(Applicant
Zabel, Bernhard
)
Identifizierung von Genen und regulatorischen Elementen, die beim Prader-Willi-Syndrom (PWS) und beim Angelman-Syndrom (AS) eine Rolle spielen
(Applicant
Horsthemke, Bernhard
)
SPP 313: Molekulare Dysmorphogenese
(Spokesperson
Horsthemke, Bernhard
)
SPP 1129: Epigenetics
(Spokespersons
Horsthemke, Bernhard
;
Walter, Jörn E.
)
Research Grants
Current projects
Dissecting DNA methylation changes arising during transition of melanocytes to various melanocytic lesions of the skin and uvea.
(Applicants
Griewank, Klaus Georg
;
Zeschnigk, Michael
)
Dissecting the dynamics and pathological mechanisms associated with TTTCA repeat expansions in Familial Adult Myoclonic epilepsy
(Applicant
Depienne, Ph.D., Christel
)
Identification of tandem repeat expansions in unsolved neurological disorders
(Applicant
Depienne, Ph.D., Christel
)
Investigating molecular mechanisms of RBMX-associated brain disorders and functional redundancy of RBMXL1 retrocopy in humans and mice
(Applicant
Depienne, Ph.D., Christel
)
Completed projects
A mouse model of RB1 imprinting: knock-in of human PPP1R26P1 into mouse Rb1
(Applicant
Steenpaß, Laura
)
Das Okulo-Aurikulo-Vertebrale Spektrum (OAVS) - Clinical and molecular investigations of a heterogenous disorder
(Applicant
Wieczorek, Dagmar
)
Elterlich geprägte Expression des RB1 Gens: Mechanismen und Auswirkungen - Imprinted expression of the RB1 gene: mechanisms and consequences
(Applicant
Lohmann, Dietmar Rudolf
)
Funktion des humanen C15orf2 Gens
(Applicant
Horsthemke, Bernhard
)
Funktionelle Analyse des TRPS1 Zinkfinger-Proteins und seine Rolle in der Pathogenese des Tricho-Rhino-Phalangealen Syndroms
(Applicant
Lüdecke, Hermann-Josef
)
Genetic and epigenetic risk factors in assisted reproduction
(Applicants
Horsthemke, Bernhard
;
Ludwig, Michael
)
Genetische Mechanismen der Tumorprogression bei Retinoblastom
(Applicant
Lohmann, Dietmar Rudolf
)
Identification of targets and interactors of the DYT6-related trancription factor THAP1
(Applicant
Lohmann, Katja
)
Identifizierung genetischer Veränderungen auf Chromosom 3, die an der Entstehung oder Progression des Aderhautmelanoms beteiligt sind
(Applicant
Lohmann, Dietmar Rudolf
)
Identifizierung von Genen und regulatorischen Elementen, die beim Prader-Willi-Syndrom (PWS) und beim Angelman-Syndrom (AS) eine Rolle spielen
(Applicant
Buiting, Karin
)
Impact of BAP1 inactivation on the formation of the class specific methylation pattern in uveal melanoma
(Applicants
Steenpaß, Laura
;
Zeschnigk, Michael
)
Parent-of-origin effects in retinoblastoma in an in vitro stem cell model
(Applicant
Kanber, Deniz
)
The length of the poly(A) tail of maternal-effect gene mRNAs in the mammalian oocyte and egg: dynamics and possible relevance
(Applicants
Eichenlaub-Ritter, Ursula
;
Grümmer, Ruth
;
Horsthemke, Bernhard
)
Clinical Research Units
Completed projects
Bestimmung des Expressionsprofils von Aderhautmelanomen mit Microarrays
(Applicant
Zeschnigk, Michael
)
KFO 109: Ophthalmic Oncology and Genetics
(Spokesperson
Bornfeld, Norbert
)
Koordination der Klinischen Forschungsgruppe 109
(Applicant
Bornfeld, Norbert
)
Modifikation der Disposition zur Retinoblastom und extraokulären Tumoren
(Applicant
Lohmann, Dietmar Rudolf
)
Nicht-invasiver Nachweis von Aderhautmelanomen mit Monosomie 3
(Applicant
Meyer zu Heringdorf, Dagmar
)
Major Research Instrumentation
Completed projects
Next Generation Sequencer
Research Units
Current projects
FOR 2488: Reduced penetrance in hereditary movement disorders: Elucidating mechanisms of endogenous disease protection
(Spokesperson
Klein, Christine
)
Mechanisms of penetrance and expressivity in X-linked dystonia-parkinsonism
(Applicants
Kaiser, Frank
;
Rakovic, Aleksandar
;
Westenberger, Ana
)
Physiological relevance of genetic risk variants in reduced penetrance
(Applicants
Kaiser, Frank
;
Spielmann, Malte
;
Westenberger, Ana
)
CRC/Transregios
Current projects
Role of the enigmatic TR2 isoform in regulating cardiac TH function
(Project Heads
Kaiser, Frank
;
Köster, Johannes
)
Research Training Groups
Completed projects
GRK 1431: Transcription, Chromatin Structure and DNA Repair in Development and Differentiation
(Spokesperson
Meyer, Hemmo
)
Additional Information
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