نتایج جستجو برای: mut t2

تعداد نتایج: 31546  

2013
Taísa A R Vicente Ívina E S Rocha Roberto Salvatori Carla R P Oliveira Rossana M C Pereira Anita H O Souza Viviane C Campos Elenilde G Santos Rachel D C Araújo Diniz Eugênia H O Valença Carlos C Epitácio-Pereira Mario C P Oliveira Andrea Mari Manuel H Aguiar-Oliveira

OBJECTIVES Adult subjects with untreated, lifetime, isolated GH deficiency (IGHD) due to a homozygous GHRH receptor gene mutation (MUT/MUT) residing in Itabaianinha, Brazil, present with lower BMI, higher prevalence of impaired glucose tolerance (IGT), increased insulin sensitivity (IS), and reduced β-cell function (βCF) when compared with non-BMI-matched homozygous normal controls. However, th...

Journal: :Haematologica 2012
Susanne Schnittger Ulrike Bacher Tamara Alpermann Andreas Reiter Madlen Ulke Frank Dicker Christiane Eder Alexander Kohlmann Vera Grossmann Andreas Kowarsch Wolfgang Kern Claudia Haferlach Torsten Haferlach

We analyzed 636 patients with diverse myeloproliferative neoplasms or myelodysplastic/myeloproliferative neoplasms for mutations of the Casitas B-cell lymphoma gene (CBL(mut)) in exons 8 and 9 and performed correlations to other genetic alterations. CBL(mut) were detected in 63 of 636 (9.9%) of these selected patients. CBL(mut) were more frequent in myelodysplastic/myeloproliferative neoplasms ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1995
J M Ford P C Hanawalt

We investigated whether mutations in the p53 tumor suppressor gene alter UV sensitivity and/or repair of UV-induced DNA damage in primary human skin fibroblasts from patients with Li-Fraumeni syndrome, heterozygous for mutations in one allele of the p53 gene (p53 wt/mut) and sublines expressing only mutant p53 (p53 mut). The p53 mut cells were more resistant than the p53 wt/mut cells to UV cyto...

Journal: :Drug metabolism and disposition: the biological fate of chemicals 2009
Ryoichi Fujiwara Miki Nakajima Hiroyuki Yamanaka Tsuyoshi Yokoi

Human UDP-glucuronosyltransferase (UGT)1A9 is one of the major isoforms in liver and extrahepatic tissues, catalyzing the glucuronidation of a variety of drugs, dietary constituents, steroids, fatty acids, and bile acids. UGT1A9 shows high amino acid homology with UGT1A7, UGT1A8, and UGT1A10 with overlapping substrate specificity. However, the affinities for substrates are different among them....

Journal: :ESMO open 2023

Early dynamic patterns (DP) of ctDNA and TKa provide improved prediction progression free survival for pts with HR+ HER2− ABC treated RIB+LET enrolled in the BioItaLEE trial. Here we evaluate their association tumor response. Of 287 enrolled, 236 post-baseline imaging evaluation were included present analyses. Clinical benefit rate (CBR) was defined according to Recist Critera 1.1. According pr...

Journal: :Bioscience, biotechnology, and biochemistry 2004
Makoto Yoshimoto Rie Kurata-Azuma Makoto Fujii De-Xing Hou Kohji Ikeda Tomohisa Yoshidome Miho Osako

Phenolic composition and radical scavenging activity in the shochu distillery by-products of sweetpotato (Ipomoea batatas L.) treated with koji (Aspergillus awamori mut.) and cellulase (Cellulosin T2) were investigated to develop new uses. Koji and Cellulosin T2 treatment of shochu distillery by-products from sweetpotatoes, rice, and barley increased phenolic content. Caffeic acid was identifie...

Journal: :Circulation 2005
Reiko Matsui Shanqin Xu Karlene A Maitland Antoinette Hayes Jane A Leopold Diane E Handy Joseph Loscalzo Richard A Cohen

BACKGROUND Glucose-6-phosphate dehydrogenase (G6PD) regulates production of the reduced form of NADPH through the pentose phosphate pathway. G6PD may therefore affect superoxide anion production via vascular NADPH oxidase, which is key in mediating the vascular response to angiotensin II (Ang II). We determined the hypertensive and vascular hypertrophic response to Ang II in G6PD-deficient mice...

Journal: :Blood 2014
Stephan Stilgenbauer Andrea Schnaiter Peter Paschka Thorsten Zenz Marianna Rossi Konstanze Döhner Andreas Bühler Sebastian Böttcher Matthias Ritgen Michael Kneba Dirk Winkler Eugen Tausch Patrick Hoth Jennifer Edelmann Daniel Mertens Lars Bullinger Manuela Bergmann Sabrina Kless Silja Mack Ulrich Jäger Nancy Patten Lin Wu Michael K Wenger Günter Fingerle-Rowson Peter Lichter Mario Cazzola Clemens M Wendtner Anna M Fink Kirsten Fischer Raymonde Busch Michael Hallek Hartmut Döhner

Mutations in TP53, NOTCH1, and SF3B1 were analyzed in the CLL8 study evaluating first-line therapy with fludarabine and cyclophosphamide (FC) or FC with rituximab (FCR) among patients with untreated chronic lymphocytic leukemia (CLL). TP53, NOTCH1, and SF3B1 were mutated in 11.5%, 10.0%, and 18.4% of patients, respectively. NOTCH1(mut) and SF3B1(mut) virtually showed mutual exclusivity (0.6% co...

Journal: :The Journal of biological chemistry 2016
Patrick Forny Anke Schumann Merima Mustedanagic Déborah Mathis Marie-Angela Wulf Nadine Nägele Claus-Dieter Langhans Assem Zhakupova Joerg Heeren Ludger Scheja Ralph Fingerhut Heidi L Peters Thorsten Hornemann Beat Thony Stefan Kölker Patricie Burda D Sean Froese Olivier Devuyst Matthias R Baumgartner

Methylmalonic aciduria (MMAuria), caused by deficiency of methylmalonyl-CoA mutase (MUT), usually presents in the newborn period with failure to thrive and metabolic crisis leading to coma or even death. Survivors remain at risk of metabolic decompensations and severe long term complications, notably renal failure and neurological impairment. We generated clinically relevant mouse models of MMA...

Journal: :Cancer research 2007
Xiao-Ning Guo Ashwani Rajput Rebecca Rose Jennie Hauser Alexander Beko Karen Kuropatwinski Charles LeVea Robert M Hoffman Michael G Brattain Jing Wang

Mutations in the PIK3CA gene are common in human cancers, including colon cancer. We compared two pairs of colon cancer cells (HCT116 and DLD1) bearing only the wild-type (WT) or mutant (MUT) PIK3CA allele for their survival capacity under stress conditions in vitro as well as their metastatic properties in an in vivo orthotopic model. When subjected to growth factor deprivation stress (GFDS), ...

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