Results 91 to 100 of about 1,969,573 (309)
Goals and practicalities of immunoblotting and immunohistochemistry: A guide for submission to the British Journal of Pharmacology
British Journal of Pharmacology, 2018 S. Alexander, R. Roberts, B. Broughton, C. Sobey, Christopher H George, S. Stanford, G. Cirino, J. Docherty, M. Giembycz, D. Hoyer, P. Insel, A. Izzo, Yong Ji, D. MacEwan, Jonathan E. Mangum, S. Wonnacott, A. Ahluwalia +16 moresemanticscholar +1 more sourceIntensive Chemotherapy With or Without Midostaurin in Adults ≥ 60 Years Old With FLT3‐Mutated AML: A FILO‐DATAML‐PETHEMA Real‐World Study
American Journal of Hematology, EarlyView.ABSTRACT
The addition of midostaurin (MIDO) to intensive chemotherapy (IC) improves survival in younger adults with FLT3‐mutated acute myeloid leukemia (AML); however, real‐world data in elderly patients (≥ 60 years) are limited. This large, retrospective, multicenter study from three European registries (PETHEMA, FILO, DATAML) evaluated MIDO+IC (n ...Gaspar Aspas Requena, Pau Montesinos, Emilie Bérard, Sarah Bertoli, Rebeca Rodríguez‐Veiga, Celestine Simand, Laura Torres, Pierre Peterlin, Mar Tormo, Rudy Birsen, Juan Miguel Bergua‐Burgues, Emmanuelle Tavernier, Teresa Bernal del Castillo, Martin Carré, Cristina Gil, Adrien Contejean, Eduardo Rodríguez‐Arbolí, Corentin Orvain, Carlos Rodríguez‐Medina, Lauren Veronese, Maria Jose Sayas Lloris, Eric Delabesse, Josefina Serrano, Ariane Mineur, María García‐Fortes, Romain Guieze, Maria Luz Amigo, Arnaud Pigneux, Lorenzo Algarra Algarra, Christian Recher, Pierre‐Yves Dumas, David Martínez‐Cuadrón +31 morewiley +1 more sourceCombined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey +11 morewiley +1 more sourceA Population‐Based Assessment of Cancer Risk in Children With VACTERL
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D. Harris, Tania A. Desrosiers, Andrew F. Olshan, Amanda E. Janitz, Michael E. Scheurer, Charles J. Shumate, Angela E. Scheuerle, Sharon E. Plon, Chad D. Huff, Ann Nordgren, Barbara Luke, Philip J. Lupo, Jeremy M. Schraw +15 morewiley +1 more sourceCytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison +9 morewiley +1 more sourceBritish Journal of Nutrition
NatureP. Calder, F. Bellisle, Leuven Belgium M D J Buyse, Spain Leo´n, M. Choi, Korea A Daegu, Frederiksberg Denmark K Eder Halle Chwalibog, Saale, Germany, S. Garnett, Sydney, Australia, Madrid Spain E Herrera, M. Hetherington, U. Liverpool, Aberdeen UK S J Holtrop, Kaushik, I. Kyriazakis, Greece H J Karditsa, Oxford UK A M Lightowler, Madrid Spain Lo´pez-Sobaler, C. Moinard, France Paris, Dublin Ireland T A Molloy, Perth Australia P Mori, Southampton UK J H Nestel, Chuncheon Y Park, Korea, Kiel Germany G Rimbach, Southampton UK S M Robinson, Barcelona Spain E Ros, Turku Finland S Salminen, Nuthetal Germany M B Schulze, C. Sirtori, I. Milan, Tetens, Søborg, Denmark., Awaya T Kohno, A. Ouwehand, Putaala Saarinen M, H. Rautonen, EM Hannon, M. Kiely, Flynn, Stahl W Tronnier H Sies H Bejot M Maurette Spirt SD, Joachim Heinrich, C. Martin, SM Coulon, H. Raymond Allen, S. Solerte, Klersy Trotti R, Inui H Nakano, Y. Cobalamin, Bae´za E Saez G, D. Gruffat, D. Hepatic, AV Bose, Panter-Brick, PG Lunn, R. Langford, D. Manandhar, Furukawa Suzuki K, Sukegawa E Takahashi, EM Hamad, Kawakami Higashi S, Abd El-Gawad, Y. Pitsiladis, Cn Moran, Roma-Giannikou, E. Manios, Bernardo, Wagner Tchanturia K, G. Ferna´ndez-Aranda, Zhang Yin Y, Li Sun Z, Kong Chu W, L. X, Li Yu Z, L. Chen X, Y. Lin, Jh Lee, YH Yang, Myeung Ju Kim, O. Kwon, Sok D-E, HC Kim, MR Kim, D. Valencia, M. Serrano, La´zaro, G. Mateos, CA Gewa, R. Weiss, NO Bwibo, S. Murphy, H. Neumann, M. Kelly, K. Rennie, Wallace Jmw, Pj Robson, R. Welch, MP Hannon-Fletcher, Livingstone Mbe, HR Griffiths, Grant MM Mistry N Lunec Willetts RS, R. Bevan, KA Jackson, R. Valentine, Swan DC Mathers McKay JA, J. Ford, P. Kumar, K. Rani, AC Omkar, BM Winklhofer-Roob, BO Ma¨rz, E. Clayton, TL Hanstock, J. Watson, E. Takahashi, Ferna´ndez-Aranda Wagner G, See Kulkarni, Kunz Kuntz S, AJ Suzan, Arc¸ari DP Cerutti SM, ML Ribeiro, Bastos Dhm, Carvalho PdO +127 moresemanticscholar +1 more source
