Výsledky vyhledávání - "Georg Rosenberger"

Akademický článek

Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype

Autor: Till Joscha Demal, Tasja Scholz, Helke Schüler, Jakob Olfe, Anja Fröhlich, Fabian Speth, Yskert von Kodolitsch, Thomas S. Mir, Hermann Reichenspurner, Christian Kubisch, Maja Hempel, Georg Rosenberger

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)

Abstract MASS phenotype is a connective tissue disorder clinically overlapping with Marfan syndrome and caused by pathogenic variants in FBN1. We report four patients from three families presenting with a MASS-like phenotype consisting of tall statur

Externí odkaz: https://doaj.org/article/9abe0c60c92645cdb0f0b6565cf5ba06

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Akademický článek

RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.

Autor: Uta Meyer Zum Büschenfelde, Laura Isabel Brandenstein, Leonie von Elsner, Kristina Flato, Tess Holling, Martin Zenker, Georg Rosenberger, Kerstin Kutsche

Publikováno v: PLoS Genetics, Vol 14, Iss 5, p e1007370 (2018)

RIT1 belongs to the RAS family of small GTPases. Germline and somatic RIT1 mutations have been identified in Noonan syndrome (NS) and cancer, respectively. By using heterologous expression systems and purified recombinant proteins, we identified the

Externí odkaz: https://doaj.org/article/b4d836be31a34011b9d666f01b61d696

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Akademický článek

αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor.

Autor: Fanny Kortüm, Frederike Leonie Harms, Natascha Hennighausen, Georg Rosenberger

Publikováno v: PLoS ONE, Vol 10, Iss 7, p e0132737 (2015)

Endosomal sorting is an essential control mechanism for signaling through the epidermal growth factor receptor (EGFR). We report here that the guanine nucleotide exchange factor αPIX, which modulates the activity of Rho-GTPases, is a potent bimodal

Externí odkaz: https://doaj.org/article/f12ec19fb32f45f6aa319889d9e4075e

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Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs

Publikováno v: Journal of the American Society of Nephrology, 34, 2, pp. 273-290
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
Journal of the American Society of Nephrology, 34, 273-290

Background: About 40 disease genes have been described to date for isolated congenital anomalies of the kidneys and urinary tract (CAKUT), the most common cause of childhood chronic kidney disease. However, these genes account for only 20% of cases.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4439761a65e0ca2ac0685948bb12003
https://repository.ubn.ru.nl/handle/2066/290858

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The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

Autor: Karen W. Gripp, Gary A. Bellus, Georg Rosenberger, Deborah L. Stabley, Verena Kolbe, Laura A. Baker, Katherine M. Robbins, Theresa Nauth

Publikováno v: Eur J Hum Genet

Specific activating missense HRAS variants cause Costello syndrome (CS), a RASopathy with recognizable facial features. The majority of these dominant disease causing variants affect the glycine residues in position 12 or 13. A clinically suspected C

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a9ef3d90045b14169e9d18ee6d1fbf6
https://doi.org/10.1038/s41431-020-0662-4

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Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype

Publikováno v: Scientific reports. 12(1)

MASS phenotype is a connective tissue disorder clinically overlapping with Marfan syndrome and caused by pathogenic variants in FBN1. We report four patients from three families presenting with a MASS-like phenotype consisting of tall stature, arachn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b42bbdab7e2e75a6b87efeed1278cc7
https://pubmed.ncbi.nlm.nih.gov/35296718

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The focal adhesion protein β-parvin controls cardiomyocyte shape and sarcomere assembly in response to mechanical load

Autor: Ingo Thievessen, Frank Suhr, Silvia Vergarajauregui, Ralph T. Böttcher, Klara Brixius, Georg Rosenberger, Oliver Dewald, Bernd K. Fleischmann, Alexander Ghanem, Marcus Krüger, Felix B. Engel, Ben Fabry, Wilhelm Bloch, Reinhard Fässler

Publikováno v: Current Biology. 32:3033-3047.e9

Physiological and pathological cardiac stress induced by exercise and hypertension, respectively, increase the hemodynamic load for the heart and trigger specific hypertrophic signals in cardiomyocytes leading to adaptive or maladaptive cardiac hyper

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fb3bb01efabd38153f52e3a198098e5
https://doi.org/10.1016/j.cub.2022.05.047

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Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage

Autor: Nils Ole Schmidt, Janine Altmüller, Thomas Sauvigny, Manfred Westphal, Verena Kolbe, Linda Krause, Jan Regelsberger, Georg Rosenberger, Alice Busch, Malik Alawi, Wolfgang Lieb, Britt-Sabina Löscher, Christian Brockmann, Andre Franke, Sina Renner, Michael Spohn

Publikováno v: Journal of Neurology

Objective Genetic risk factors for unruptured intracranial aneurysms (UIA) and aneurysmal subarachnoid hemorrhage (aSAH) are poorly understood. We aimed to verify recently reported risk genes and to identify novel sequence variants involved in the et

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f57a8aaf0423bfc78ae5c50000932898
https://pubmed.ncbi.nlm.nih.gov/32367296

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