Search Results - "Frank, Jorge"

Diagnostic spectrum and therapeutic efficiency in teledermatology–Results of the largest cohort study to date by Lindemann, Hanna, Bonetzki, Tim, Frank, Jorge

“…Timely and comprehensive dermatological care is a major challenge. Digitized medical consultation offers a possibility to overcome this problem. Here, we…”
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IL-31 regulates differentiation and filaggrin expression in human organotypic skin models by Cornelissen, Christian, MSc, Marquardt, Yvonne, Czaja, Katharina, Wenzel, Jörg, MD, Frank, Jorge, MD, Lüscher-Firzlaff, Juliane, MD, Lüscher, Bernhard, PhD, Baron, Jens M., MD

“…Background Atopic dermatitis (AD) is an inflammatory skin disease affecting 10% to 20% of children and 1% to 3% of adults in industrialized countries. Enhanced…”
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Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex by Romano, Maria-Teresa, Tafazzoli, Aylar, Mattern, Maximilian, Sivalingam, Sugirthan, Wolf, Sabrina, Rupp, Alexander, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Ellwanger, Jürgen, Gambon, Reto, Baumer, Alessandra, Kohlschmidt, Nicolai, Metze, Dieter, Holdenrieder, Stefan, Paus, Ralf, Lütjohann, Dieter, Frank, Jorge, Geyer, Matthias, Bertolini, Marta, Kokordelis, Pavlos, Betz, Regina C.

“…Hypotrichosis simplex (HS) is a rare form of hereditary alopecia characterized by childhood onset of diffuse and progressive scalp and body hair loss. Although…”
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Detect Acute Porphyrias in Emergency Departments (DePorED) - a pilot study by Diehl-Wiesenecker, Eva, Blaschke, Sabine, Wohmann, Nils, Kubisch, Ilja, Stauch, Thomas, Mainert, Mona, Helm, Franziska, von Wegerer, Sabine, Pittrow, David, Frank, Jorge, Stölzel, Ulrich, Somasundaram, Rajan

“…Acute porphyrias (APs) are a group of rare metabolic diseases related to a disturbed heme biosynthesis. Symptoms may first occur as life threatening attacks,…”
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Influence of Line Processing Parameters on Properties of Carbon Fibre Epoxy Towpreg by Murat Çelik, Thomas Noble, Frank Jorge, Rongqing Jian, Conchúr M. Ó Brádaigh, Colin Robert

“…This paper explores the performance of low-cost unidirectional carbon fibre towpregs with respect to line production speed and fibre volume fraction. Using an…”
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Treatment of acute edema attacks in hereditary angioedema with a bradykinin receptor-2 antagonist (Icatibant) by Bork, Konrad, MD, Frank, Jorge, MD, Grundt, Boris, MD, Schlattmann, Peter, MD, MSc, Nussberger, Juerg, MD, Kreuz, Wolfhart, MD

“…Background In hereditary angioedema, bradykinin is assumed to be the most important mediator of edema formation. Objective To assess whether the selective…”
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Evolutionary distinct roles of γ-secretase subunit nicastrin in zebrafish and humans by Hermasch, Matthias Andreas, Janning, Helena, Perera, Roshan Priyarangana, Schnabel, Viktor, Rostam, Nadia, Ramos-Gomes, Fernanda, Muschalek, Wiebke, Bennemann, Anette, Alves, Frauke, Ralser, Damian Johannes, Betz, Regina Christine, Schön, Michael Peter, Dosch, Roland, Frank, Jorge

“…•Injection of human NCSTN mutations encoding null alleles leads to zebrafish hypopigmentation.•Alterations in melanophore number, size, migration, and…”
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German Porphyria Registry (PoReGer)-Background and Setup by Gerischer, Lea, Mainert, Mona, Wohmann, Nils, Kubisch, Ilja, Stölzel, Ulrich, Stauch, Thomas, von Wegerer, Sabine, Braun, Fabian, Weiler-Normann, Christina, Blaschke, Sabine, Frank, Jorge, Somasundaram, Rajan, Diehl-Wiesenecker, Eva

“…Porphyrias, as most rare diseases, are characterized by complexity and scarcity of knowledge. A national registry in one of the largest European populations…”
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Afamelanotide for Erythropoietic Protoporphyria by Langendonk, Janneke G., Balwani, Manisha, Anderson, Karl E., Bonkovsky, Herbert L., Anstey, Alexander V., Bissell, D. Montgomery, Bloomer, Joseph, Edwards, Chris, Neumann, Norbert J., Parker, Charles, Phillips, John D., Lim, Henry W., Hamzavi, Iltefat, Deybach, Jean-Charles, Kauppinen, Raili, Rhodes, Lesley E., Frank, Jorge, Murphy, Gillian M., Karstens, Francois P.J., Sijbrands, Eric J.G., de Rooij, Felix W.M., Lebwohl, Mark, Naik, Hetanshi, Goding, Colin R., Wilson, J.H. Paul, Desnick, Robert J.

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An immortalized rat liver stellate cell line (HSC-T6): a new cell model for the study of retinoid metabolism in vitro by Vogel, S, Piantedosi, R, Frank, J, Lalazar, A, Rockey, D C, Friedman, S L, Blaner, W S

“…Hepatocytes and hepatic stellate cells play important roles in retinoid storage and metabolism. Hepatocytes process postprandial retinyl esters and are…”
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Novel Mutations in the BHD Gene and Absence of Loss of Heterozygosity in Fibrofolliculomas of Birt-Hogg-Dubé Patients by van Steensel, Maurice A.M., Verstraeten, Valerie L.R.M., Frank, Jorge, Kelleners-Smeets, Nicole W.J., Poblete-Gutiérrez, Pamela, Marcus-Soekarman, Dominique, Bladergroen, Reno S., Steijlen, Peter M., van Geel, Michel

“…Birt-Hogg-Dubé (BHD) syndrome is an autosomal-dominantly inherited cancer syndrome characterized by fibrofolliculomas, lung cysts leading to pneumothorax, and…”
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Photoallergic contact dermatitis caused by ultraviolet filters in different sunscreens by Collaris, Esther J. H., Frank, Jorge

“…Over the last decade, a change in the public awareness regarding the possible danger of excessive sunlight exposure has resulted in an increased consumption of…”
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RSPO4 Is the Major Gene in Autosomal-Recessive Anonychia and Mutations Cluster in the Furin-Like Cysteine-Rich Domains of the Wnt Signaling Ligand R-spondin 4 by Brüchle, Nadina Ortiz, Frank, Jorge, Frank, Valeska, Senderek, Jan, Akar, Ahmet, Koc, Erol, Rigopoulos, Dimitris, van Steensel, Maurice, Zerres, Klaus, Bergmann, Carsten

“…Congenital anonychia is a rare autosomal-recessive disorder characterized by the absence of finger- and toenails. Recently, we and others identified the…”
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Frühzeitige Diagnose der Neurofibromatose Typ 1 – Eine Herausforderung by Frank, Jorge

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Superficial thrombophlebitis of the venous dorsal arch of the foot and deep venous thrombosis after foam sclerotherapy by Shadid, Nadia, Frank, Jorge, Sommer, Anja

“…Four days after foamsclerotherapy of an incompetent great saphenous vein of the left lower leg a 49‐year‐old woman developed a superficial thrombophlebitis of…”
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Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature by Badeloe, Sadhanna, Van Geel, Michel, Van Steensel, Maurice A. M., Bastida, Jesús, Ferrando, Juan, Steijlen, Peter M., Frank, Jorge, Poblete-Gutiérrez, Pamela

“…:  Multiple cutaneous and uterine leiomyomatosis (MCUL; OMIM 150800) is an autosomal dominantly inherited disease characterized by leiomyomas of the skin and…”
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Digenic Inheritance of Mutations in the Coproporphyrinogen Oxidase and Protoporphyrinogen Oxidase Genes in a Unique Type of Porphyria by van Tuyll van Serooskerken, Anne Moniek, de Rooij, Felix W., Edixhoven, Annie, Bladergroen, Reno S., Baron, Jens M., Joussen, Sylvia, Merk, Hans F., Steijlen, Peter M., Poblete-Gutiérrez, Pamela, te Velde, Kornelis, Paul Wilson, J.H., Koole, Rita H., van Geel, Michel, Frank, Jorge

“…The simultaneous dysfunction of two enzymes within the heme biosynthetic pathway in a single patient is rare. Not more than 15 cases have been reported. A…”
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Evidence of multiple paternal contribution in Podocnemis sextuberculata (Testudines: Podocnemididae) detected by microsatellite markers by Fantin, Cleiton, Pereira, Dorothy Ivila Melo, Ferreira, Jorge Frank, Machado, Paulo Cesar Andrade, Hrbek, Tomas, Monjeló, Luiz Alberto Santos, Farias, Izeni Pires

“…Evidência de contribuição paterna múltipla em Podocnemis sextuberculata (Chelonia: Podocnemididae) por meio de marcadores microssatélites. Encontramos…”
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Proposing GLMN, encoding glomulin, as a novel gene for Dowling-Degos disease by Kumar, Sheetal, Betz, Regina C, Frank, Jorge

“…Dowling-Degos disease (DDD) is a rare hyperpigmentation disorder with autosomal-dominant inheritance. To date, work by our group and others has identified a…”
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Hereditäre Hautadnextumor‐Syndrome – Eine interdisziplinäre Herausforderung by Frank, Jorge

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