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  1. 1.   Functional assays for the diagnosis of chronic granulomatous disease
  2. Long-Priel,Debra; Lau,Karen; Fink,Dani; Kuhns,Doug
  3. Journal of Immunological Methods. 2025, Jan 28; 113820.
  1. 2.   Single-cell sequencing reveals activation of core transcription factors in PRC2-deficient malignant peripheral nerve sheath tumor
  2. Zhang, Xiyuan; Lou, Hannah E; Gopalan, Vishaka; Liu, Zhihui; Jafarah, Hilda M; Lei, Haiyan; Jones, Paige; Sayers, Carly M; Yohe, Marielle E; Chittiboina, Prashant; Widemann, Brigitte C; Thiele, Carol J; Kelly,Michael; Hannenhalli, Sridhar; Shern, Jack F
  3. Cell Reports. 2022, Sep 20; 40(12): 111363.
  1. 3.   Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar
  2. Donko, Agnes; Kuhns,Doug; Cousin, Margot A; Smith, Matthew J; Sacco, Keith A; Klee, Eric W; Joshi, Avni Y; Gavrilova, Ralitza H; Holland, Steven M; Leto, Thomas L; Abraham, Roshini S
  3. Journal of Clinical Immunology. 2022, Mar 28;
  1. 4.   Genetic basis for an evolutionary shift from ancestral preaxial to postaxial limb polarity in non-urodele vertebrates
  2. Trofka, Anna; Huang,Bau-Lin; Zhu,Jianjian; Heinz,Will; Magidson,Valentin; Shibata, Yuki; Shi, Yun-Bo; Tarchini, Basile; Stadler, H Scott; Kabangu, Mirindi; Al Haj Baddar, Nour W; Voss, S Randal; Mackem,Susan
  3. Current biology : CB. 2021, Nov 22; 31(22): 4923-4934.e5.
  1. 5.   Hematologically important mutations: X-linked chronic granulomatous disease (fourth update)
  2. Roos, Dirk; van Leeuwen, Karin; Hsu, Amy P; Long-Priel,Debra; Begtrup, Amber; Brandon, Rhonda; Stasia, Marie José; Bakri, Faris Ghalib; Köker, Nezihe; Köker, M Yavuz; Madkaika, Manisha; de Boer, Martin; Garcia-Morato, Maria Bravo; Shephard, Juan Luis Valdivieso; Roesler, Joachim; Kanegane, Hirokazu; Kawai, Toshinao; Di Matteo, Gigliola; Shahrooei, Mohammad; Bustamante, Jacinta; Rawat, Amit; Vignesh, Pandiarajan; Mortaz, Esmaeil; Fayezi, Abbas; Cagdas, Deniz; Tezcan, Ilhan; Kitcharoensakkul, Maleewan; Dinauer, Mary C; Meyts, Isabelle; Wolach, Baruch; Condino-Neto, Antonio; Zerbe, Christa S; Holland, Steven M; Malech, Harry L; Gallin, John I; Kuhns,Doug
  3. Blood cells, molecules & diseases. 2021, Sep; 90: 102587.
  1. 6.   Phox2a Defines a Developmental Origin of the Anterolateral System in Mice and Humans
  2. Roome, R Brian; Bourojeni, Farin B; Mona, Bishakha; Rastegar-Pouyani, Shima; Blain, Raphael; Dumouchel, Annie; Salesse, Charleen; Thompson, W Scott; Brookbank, Megan; Gitton, Yorick; Tessarollo,Lino; Goulding, Martyn; Johnson, Jane E; Kmita, Marie; Chédotal, Alain; Kania, Artur
  3. Cell reports. 2020, Nov 24; 33(8): 108425.
  1. 7.   The formation of the thumb requires direct modulation of Gli3 transcription by Hoxa13
  2. Bastida, Maria Félix; Pérez-Gómez, Rocío; Trofka, Anna; Zhu,Jianjian; Rada-Iglesias, Alvaro; Sheth, Rushikesh; Stadler, H Scott; Mackem,Susan; Ros, Marian A
  3. Proceedings of the National Academy of Sciences of the United States of America. 2020, JAN 14; 117(2): 1090-1096.
  1. 8.   Targeting the Oncogenic Long Non-coding RNA SLNCR1 by Blocking Its Sequence-Specific Binding to the Androgen Receptor
  2. Schmidt, Karyn; Weidmann, Chase A; Hilimire, Thomas A; Yee, Elaine; Hatfield, Breanne M; Schneekloth,Jay; Weeks, Kevin M; Novina, Carl D
  3. Cell reports. 2020, Jan 14; 30(2): 541-554.e5.
  1. 9.   A Conserved Pbx-Wnt-p63-Irf6 Regulatory Module Controls Face Morphogenesis by Promoting Epithelial Apoptosis
  2. Ferretti, E.; Li, B. S.; Zewdu, R.; Wells, V.; Hebert, J. M.; Karner, C.; Anderson, M. J.; Williams, T.; Dixon, J.; Dixon, M. J.; Depew, M. J.; Selleri, L.
  3. Developmental Cell. 2011, Oct; 21(4): 627-641.
  1. 10.   Urinary Estrogen Metabolites and Prostate Cancer Risk: A Pilot Study
  2. Kosti, O.; Xu, X.; Veenstra, T. D.; Hsing, A. W.; Chu, L. W.; Goldman, L.; Bebu, I.; Collins, S.; Dritschilo, A.; Lynch, J. H.; Goldman, R.
  3. Prostate. 2011, Apr; 71(5): 507-516.
  1. 11.   Residual NADPH Oxidase and Survival in Chronic Granulomatous Disease
  2. Kuhns, D. B.; Alvord, W. G.; Heller, T.; Feld, J. J.; Pike, K. M.; Marciano, B. E.; Uzel, G.; DeRavin, S. S.; Priel, D. A. L.; Soule, B. P.; Zarember, K. A.; Malech, H. L.; Holland, S. M.; Gallin, J. I.
  3. New England Journal of Medicine. 2010, Dec; 363(27): 2600-2610.
  1. 12.   Hematologically important mutations: X-linked chronic granulomatous disease (third update)
  2. Roos, D.; Kuhns, D. B.; Maddalena, A.; Roesler, J.; Lopez, J. A.; Ariga, T.; Avcin, T.; de Boer, M.; Bustamante, J.; Condino-Neto, A.; Di Matteo, G.; He, J. X.; Hill, H. R.; Holland, S. M.; Kannengiesser, C.; Koker, M. Y.; Kondratenko, I.; van Leeuwen, K.; Malech, H. L.; Marodi, L.; Nunoi, H.; Stasia, M. J.; Ventura, A. M.; Witwer, C. T.; Wolach, B.; Gallin, J. I.
  3. Blood Cells Molecules and Diseases. 2010, Oct; 45(3): 246-265.
  1. 13.   Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update)
  2. Roos, D.; Kuhns, D. B.; Maddalena, A.; Bustamante, J.; Kannengiesser, C.; de Boer, M.; van Leeuwen, K.; Koker, M. Y.; Wolach, B.; Roesler, J.; Malech, H. L.; Holland, S. M.; Gallin, J. I.; Stasia, M. J.
  3. Blood Cells Molecules and Diseases. 2010, Apr; 44(4): 291-299.
  1. 14.   Hematopoietic Immortalizing Function of the NKL-Subclass Homeobox Gene TLX1
  2. Renn, L. A. Z.; Hawley, T. S.; Burkett, S.; Ramezani, A.; Riz, I.; Adlers, R. L.; Hickstein, D. D.; Hawley, R. G.
  3. Genes Chromosomes & Cancer. 2010, Feb; 49(2): 119-131.
  1. 15.   Retrovirus gene therapy for X-linked chronic granulomatous disease can achieve stable long-term correction of oxidase activity in peripheral blood neutrophils
  2. Kang, E. M.; Choi, U.; Theobald, N.; Linton, G.; Priel, D. A. L.; Kuhns, D.; Malech, H. L.
  3. Blood. 2010, Jan; 115(4): 783-791.
  1. 16.   The novel Akt inhibitor Palomid 529 (P529) enhances the effect of radiotherapy in prostate cancer
  2. Diaz, R.; Nguewa, P. A.; Diaz-Gonzalez, J. A.; Hamel, E.; Gonzalez-Moreno, O.; Catena, R.; Serrano, D.; Redrado, M.; Sherris, D.; Calvo, A.
  3. British Journal of Cancer. 2009 100(6): 932-940.
  1. 17.   A Liquid Chromatography-Mass Spectrometry Method for the Simultaneous Measurement of 15 Urinary Estrogens and Estrogen Metabolites: Assay Reproducibility and Interindividual Variability
  2. Falk, R. T.; Xu, X.; Keefer, L.; Veenstra, T. D.; Ziegler, R. G.
  3. Cancer Epidemiology Biomarkers & Prevention. 2008 17(12): 3411-3418.
  1. 18.   Significant antitumor activity in vivo following treatment with the microtubule agent ENMD-1198
  2. LaVallee, T. M.; Burke, P. A.; Swartz, G. M.; Hamel, E.; Agoston, G. E.; Shah, J.; Suwandi, L.; Hanson, A. D.; Fogler, W. E.; Sidor, C. F.; Treston, A. M.
  3. Molecular Cancer Therapeutics. 2008 7(6): 1472-1482.
  1. 19.   Molecular consequences of SOD2 expression in epigenetically silenced pancreatic carcinoma cell lines
  2. Hurt, E. M.; Thomas, S. B.; Peng, B.; Farrar, W. L.
  3. British Journal of Cancer. 2007, Oct; 97(8): 1116-1123.
  1. 20.   Pharmacokinetics, pharmacodynamics and drug metabolism - Characterization of in vitro and in vivo metabolic pathways of the investigational anticancer agent, 2-methoxyestradiol
  2. Lakhani, N. J.; Sparreboom, A.; Xu, X.; Veenstra, T. D.; Venitz, J.; Dahut, W. L.; Figg, W. D.
  3. Journal of Pharmaceutical Sciences. 2007, Jul; 96(7): 1821-1831.
  1. 21.   Integrated molecular profiling of SOD2 expression in multiple myeloma
  2. Hurt, E. M.; Thomas, S. B.; Peng, B. J.; Farrar, W. L.
  3. Blood. 2007, May; 109(9): 3953-3962.
  1. 22.   Differential gene expression in skeletal muscle cells after membrane depolarization
  2. Juretic, N.; Urzua, U.; Munroe, D. J.; Jaimovich, E.; Riveros, N.
  3. Journal of Cellular Physiology. 2007, Mar; 210(3): 819-830.
  1. 23.   Comparison of large basis set DFT and MP2 calculations in the study of the barrier for internal rotation of 2,3,5,6-tetrafluoroanisole
  2. Kieninger, M.; Cachau, R. E.; Oberhammer, H.; Ventura, O. N.
  3. International Journal of Quantum Chemistry. 2007, Feb; 107(2): 403-417.
  1. 24.   Identification of a new natural camptothecin analogue in targeted screening for HIF-1 alpha inhibitors
  2. Klausmeyer, P.; McCloud, T. G.; Melillo, G.; Scudiero, D. A.; Cardellina, J. H.; Shoemaker, R. H.
  3. Planta Medica. 2007, Jan; 73(1): 49-52.
  1. 25.   Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1
  2. Ott, M. G.; Schmidt, M.; Schwarzwaelder, K.; Stein, S.; Siler, U.; Koehl, U.; Glimm, H.; Kuhlcke, K.; Schilz, A.; Kunkel, H.; Naundorf, S.; Brinkmann, A.; Deichmann, A.; Fischer, M.; Ball, C.; Pilz, I.; Dunbar, C.; Du, Y.; Jenkins, N. A.; Copeland, N. G.; Luthi, U.; Hassan, M.; Thrasher, A. J.; Hoelzer, D.; von Kalle, C.; Seger, R.; Grez, M.
  3. Nature Medicine. 2006, Apr; 12(4): 401-409.
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