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Your search keyword '"Noyan, Fatih"' showing total 2 results
Start Over Author "Noyan, Fatih" Publisher massachusetts medical society
2 results on '"Noyan, Fatih"'

1. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor

Author

Glocker, Erik-Oliver, Kotlarz, Daniel, Boztug, Kaan, Gertz, E. Michael, Schaffer, Alejandro A., Noyan, Fatih, Perro, Mario, Diestelhorst, Jana, Allroth, Anna, Murugan, Dhaarini, Hatscher, Nadine, Pfeifer, Dietmar, Sykora, Karl-Walter, Sauer, Martin, Kreipe, Hans, Lacher, Martin, Nustede, Rainer, Woellmer, Cristina, Baumann, Ulrich, Salzer, Ulrich, Salzer, Koletzko, Sibylle, Shah, Neil, Segal, Anthony W., Sauerbrey, Axel, Buderus, Stephan, Snapper, Scott B., Grimbacher, Bodo, and Klein, Christoph

Subjects
Intestines -- Physiological aspects, Inflammatory bowel diseases -- Diagnosis, Inflammatory bowel diseases -- Care and treatment, Inflammatory bowel diseases -- Genetic aspects, Interleukin-10 -- Health aspects, Gene mutations -- Analysis
Abstract

The study determines the molecular cause of inflammatory bowel disease by examining the genetic mutations affecting the interleukin-10 receptor. Evidence reveals mutations in genes encoding the IL10R subunit proteins in patients with early-onset enterocolitis, involving hyper-inflammatory immune responses in the intestine.

Published
2009

2. A syndrome with congenital neutropenia and mutations in G6PC3

Author

Boztug, Kaan, Appaswamy, Giridharan, Ashikov, Angel, Schaffer, Alejandro A., Salzer, Ulrich, Diestelhorst, Jana, Germeshausen, Manuela, Brandes, Gudrun, Lee-Gossler, Jacqueline, Noyan, Fatih, Gatzke, Anna-Katherina, Minkov, Milen, Greil, Johann, Kratz, Christian, Petropoulou, Theoni, Pellier, Isabelle, Bellanne-Chantelot, Christine, Rezaei, Nima, Monkemoller, Kirsten, Irani-Hakimeh, Noha, Bakker, Hans, Gerardy-Schahn, Rita, Zeidler, Cornelia, Grimbacher, Bodo, Welte, Karl, and Klein, Christoph

Subjects
Neutropenia -- Diagnosis, Neutropenia -- Causes of, Neutropenia -- Risk factors, Neutropenia -- Genetic aspects, Gene mutations -- Research, Gene mutations -- Physiological aspects
Abstract

A study was conducted to investigate the main features and causes of severe congenital neutropenia. Results indicated that defective function of glucose-6-phosphate, catalytic subunit 3, due to mutations in its encoding gene G6PC3, is indicative of the syndrome.

Published
2009

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