Karina Häbig

Screen‐positive rate in cell free DNA screening for trisomy 21

Kai Lüthgens, Karina Häbig, Jiri Sonek, Karl Oliver Kagan

OBJECTIVE: To assess whether the fetal fraction (FF) has an impact on the screen-positive rate (SPR) in cell-free DNA (cfDNA) screening for trisomy 21. METHODS: Prenatal Test (Roche Inc). Due to the size of the data set, we focused on the SPR, …

de, us (code pays fourni par la source)

Bestätigungsrate beim Screening auf geschlechtschromosomale Störungen mittels zellfreier DNA in Abhängigkeit vom Verfahren der Bestätigung

Kai Lüthgens, Monika Sinzel, Karina Häbig, Kerman Kagan

Zielsetzung Ermittlung des Positiv Prädiktiven Wertes (PPV) beim Screening auf geschlechtschromosomale Aneuploidien (SCA) mittels zellfreier DNA-Analyse (cfDNA-Test) in einer Population von mehr als 90.000 Patienten. Material und Methoden Retrospektive Studie auf der Grundlage von Proben, die an Cenata, ein privates Labor, das …

de (code pays fourni par la source)

Confirmation rate of cell free DNA screening for sex chromosomal abnormalities according to the method of confirmatory testing

Kai Lüthgens, Francesca Romana Grati, Monika Sinzel, Karina Häbig et autres

OBJECTIVE: To examine the positive predictive value (PPV) of cfDNA screening for sex chromosome aneuploidies (SCA) in a large series of over 90 000 patients. METHODS: Retrospective study based on samples that were sent to Cenata, a private laboratory which uses the …

de (code pays fourni par la source)

No Dopamine Cell Loss or Changes in Cytoskeleton Function in Transgenic Mice Expressing Physiological Levels of Wild Type or G2019S Mutant LRRK2 and in Human Fibroblasts

Marta Garcia‐Miralles, Janaky Coomaraswamy, Karina Häbig, Martin C. Herzig et autres

Mutations within the LRRK2 gene have been identified in Parkinson's disease (PD) patients and have been implicated in the dysfunction of several cellular pathways. Here, we explore how pathogenic mutations and the inhibition of LRRK2 kinase activity affect cytoskeleton dynamics in mouse …

de, se (code pays fourni par la source)

LRRK2 guides the actin cytoskeleton at growth cones together with ARHGEF7 and Tropomyosin 4

Karina Häbig, Sandra Gellhaar, Birgit Heim, Verena Djuric et autres

de, se (code pays fourni par la source)

A New Approach to the Investigation of Sexual Offenses—Cytoskeleton Analysis Reveals the Origin of Cells Found on Forensic Swabs*

Martin Manfred Schulz, Maximilian G.D. Buschner, Richard Leidig, Heinz‐D. Wehner et autres

There are forensic inquiries in which an identification of epithelial cell types would provide important probative evidence. In cancer diagnosis, this information is yielded by histological examination of cytokeratin (Ck). Therefore, we tested 19 antibodies against different Cks (Ck1, Ck2e, Ck4, Ck5-6, …

de (code pays fourni par la source)

Analyse der biologischen Funktion des Parkinson assoziierten Proteins LRRK2 in Knockdown Modellen

Karina Häbig

Microarray expression analysis of human dopaminergic neuroblastoma cells after RNA interference of SNCA — A key player in the pathogenesis of Parkinson's disease

Karina Häbig, Michael J. Walter, Heike Stappert, Olaf Horst Riess et autres

de (code pays fourni par la source)

Gene expression changes in a transgenic mouse model overexpressing human wildtype and mutant torsinA

Kathrin Grundmann, Jeannette Hübener‐Schmid, Karina Häbig, Bettina Reischmann et autres

Primary torsion dystonia is an autosomal-dominantly inherited, neurodevelopmental movement disorder caused by a GAG deletion (ΔGAG) in the DYT1 gene, encoding torsinA. This mutation is responsible for approximately 70% of cases of early-onset primary torsion dystonia. The function of wildtype torsinA is …

de (code pays fourni par la source)

RNA interference of LRRK2–microarray expression analysis of a Parkinson’s disease key player

Karina Häbig, Michael J. Walter, Sven Poths

de (code pays fourni par la source)

Nuclear Localization of Ataxin-3 Is Required for the Manifestation of Symptoms in SCA3:In VivoEvidence

Ulrike Bichelmeier, Thorsten Schmidt, Jeannette Hübener‐Schmid, Jana Boy et autres

Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominantly inherited neurodegenerative disorder caused by the expansion of a CAG repeat in the MJD1 gene resulting in an expanded polyglutamine repeat in the ataxin-3 protein. To study the course of the disease, we …

de, ru, se, at (code pays fourni par la source)

Transcriptional effects of conditional parkin-overexpression in PC12-cells

AF Koch, Karina Häbig, Martin Dichgans, Thomas Gasser et autres

Mutations in the parkin gene are the commonest cause of early-onset, recessive parkinsonism. The parkin protein functions as an E3-ubiquitin-protein ligase. This activity is thought to participate in the detoxification of specific substrate proteins and in intracellular signaling cascades. To further analyse …