Publications:

Proinflammatory plasticity towards Th17 paradigm of regulatory T cells consistent with elevated prevalence of TGFBR2 variants in elderly patients with primary immune thrombocytopenia.

Bmc Immunology

Cao, Jingjing J; Zhan, Yanxia Y; Ji, Lili L; Chen, Pu P; Cheng, Luya L; Li, Feng F; Zhuang, Xibing X; Min, Zhihui Z; Sun, Lihua L; Hua, Fanli F; Chen, Hao H; Wu, Boting B; Cheng, Yunfeng Y

Publication Date: 2023-04-07

Variant appearance in text: PC: 1019C>T; T340M

PubMed Link: 37029342

Variant Present in the following documents:

• Main text
• 12865_2023_Article_541.pdf

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Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing.

Diagnostics (Basel, Switzerland)

Vrtel, Petr P; Slavik, Ludek L; Vodicka, Radek R; Stellmachova, Julia J; Prochazka, Martin M; Prochazkova, Jana J; Ulehlova, Jana J; Rohon, Peter P; Simurda, Tomas T; Stasko, Jan J; Martinkova, Ivana I; Vrtel, Radek R

Publication Date: 2022-04-23

Variant appearance in text: PC: 1019C>T; Thr340Met

PubMed Link: 35626216

Variant Present in the following documents:

• Main text
• diagnostics-12-01060.pdf

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Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4.

Plos One

Hernandez-Gonzalez, Ignacio I; Tenorio, Jair J; Palomino-Doza, Julian J; Martinez Meñaca, Amaya A; Morales Ruiz, Rafael R; Lago-Docampo, Mauro M; Valverde Gomez, María M; Gomez Roman, Javier J; Enguita Valls, Ana Belén AB; Perez-Olivares, Carmen C; Valverde, Diana D; Gil Carbonell, Joan J; Garrido-Lestache Rodríguez-Monte, Elvira E; Del Cerro, Maria Jesus MJ; Lapunzina, Pablo P; Escribano-Subias, Pilar P

Publication Date: 2020

Variant appearance in text: PC: 1019C>T

PubMed Link: 32348326

Variant Present in the following documents:

• Main text
• pone.0232216.pdf

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Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications

Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML

Publication Date: 2017-02-10

Variant appearance in text: PC: T340I

PubMed Link: 28186126

Variant Present in the following documents:

• ncomms14262-s5.xlsx, sheet 2

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