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3. Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.

Author

Hidalgo‐Gutierrez, Agustin, Shintaku, Jonathan, Ramon, Javier, Barriocanal‐Casado, Eliana, Pesini, Alba, Saneto, Russell P., Garrabou, Gloria, Milisenda, Jose Cesar, Matas‐Garcia, Ana, Gort, Laura, Ugarteburu, Olatz, Gu, Yue, Koganti, Lahari, Wang, Tian, Tadesse, Saba, Meneri, Megi, Sciacco, Monica, Wang, Shuang, Tanji, Kurenai, and Horwitz, Marshall S.

Subjects
MITOCHONDRIAL DNA, CYTOCHROME oxidase, PHOSPHATASE inhibitors, GENETIC variation, DEOXYGUANOSINE
Abstract

Objective: Mitochondrial DNA (mtDNA) depletion/deletions syndrome (MDDS) comprises a group of diseases caused by primary autosomal defects of mtDNA maintenance. Our objective was to study the etiology of MDDS in 4 patients who lack pathogenic variants in known genetic causes. Methods: Whole exome sequencing of the probands was performed to identify pathogenic variants. We validated the mitochondrial defect by analyzing mtDNA, mitochondrial dNTP pools, respiratory chain activities, and GUK1 activity. To confirm pathogenicity of GUK1 deficiency, we expressed 2 GUK1 isoforms in patient cells. Results: We identified biallelic GUK1 pathogenic variants in all 4 probands who presented with ptosis, ophthalmoparesis, and myopathic proximal limb weakness, as well as variable hepatopathy and altered T‐lymphocyte profiles. Muscle biopsies from all probands showed mtDNA depletion, deletions, or both, as well as reduced activities of mitochondrial respiratory chain enzymes. GUK1 encodes guanylate kinase, originally identified as a cytosolic enzyme. Long and short isoforms of GUK1 exist. We observed that the long isoform is intramitochondrial and the short is cytosolic. In probands' fibroblasts, we noted decreased GUK1 activity causing unbalanced mitochondrial dNTP pools and mtDNA depletion in both replicating and quiescent fibroblasts indicating that GUK1 deficiency impairs de novo and salvage nucleotide pathways. Proband fibroblasts treated with deoxyguanosine and/or forodesine, a purine phosphatase inhibitor, ameliorated mtDNA depletion, indicating potential pharmacological therapies. Interpretation: Primary GUK1 deficiency is a new and potentially treatable cause of MDDS. The cytosolic isoform of GUK1 may contribute to the T‐lymphocyte abnormality, which has not been observed in other MDDS disorders. ANN NEUROL 2024;96:1209–1224 [ABSTRACT FROM AUTHOR]

Published
2024
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6. RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML

Author

Brown, Anna L., Arts, Peer, Carmichael, Catherine L., Babic, Milena, Dobbins, Julia, Chong, Chan-Eng, Schreiber, Andreas W., Feng, Jinghua, Phillips, Kerry, Wang, Paul P.S., Ha, Thuong, Homan, Claire C., King-Smith, Sarah L., Rawlings, Lesley, Vakulin, Cassandra, Dubowsky, Andrew, Burdett, Jessica, Moore, Sarah, McKavanagh, Grace, Henry, Denae, Wells, Amanda, Mercorella, Belinda, Nicola, Mario, Suttle, Jeffrey, Wilkins, Ella, Li, Xiao-Chun, Michaud, Joelle, Brautigan, Peter, Cannon, Ping, Altree, Meryl, Jaensch, Louise, Fine, Miriam, Butcher, Carolyn, D'Andrea, Richard J., Lewis, Ian D., Hiwase, Devendra K., Papaemmanuil, Elli, Horwitz, Marshall S., Natsoulis, Georges, Rienhoff, Hugh Y., Jr, Patton, Nigel, Mapp, Sally, Susman, Rachel, Morgan, Susan, Cooney, Julian, Currie, Mark, Popat, Uday, Bochtler, Tilmann, Izraeli, Shai, Bradstock, Kenneth, Godley, Lucy A., Krämer, Alwin, Fröhling, Stefan, Wei, Andrew H., Forsyth, Cecily, Mar Fan, Helen, Poplawski, Nicola K., Hahn, Christopher N., and Scott, Hamish S.

Published
2020
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8. Evidence of Gene�Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors

Author

Nickels, Stefan, Truong, Thérèse, Hein, Rebecca, Stevens, Kristen, Buck, Katharina, Behrens, Sabine, Eilber, Ursula, Schmidt, Martina, Häberle, Lothar, Vrieling, Alina, Gaudet, Mia, Figueroa, Jonine, Schoof, Nils, Spurdle, Amanda B, Rudolph, Anja, Fasching, Peter A, Hopper, John L, Makalic, Enes, Schmidt, Daniel F, Southey, Melissa C, Beckmann, Matthias W, Ekici, Arif B, Fletcher, Olivia, Gibson, Lorna, dos Santos Silva, Isabel, Peto, Julian, Humphreys, Manjeet K, Wang, Jean, Cordina-Duverger, Emilie, Menegaux, Florence, Nordestgaard, Børge G, Bojesen, Stig E, Lanng, Charlotte, Anton-Culver, Hoda, Ziogas, Argyrios, Bernstein, Leslie, Clarke, Christina A, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Stegmaier, Christa, Brauch, Hiltrud, Brüning, Thomas, Harth, Volker, GENICA Network, The, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M, kConFab, The, Group, AOCS Management, Lambrechts, Diether, Smeets, Dominiek, Neven, Patrick, Paridaens, Robert, Flesch-Janys, Dieter, Obi, Nadia, Wang-Gohrke, Shan, Couch, Fergus J, Olson, Janet E, Vachon, Celine M, Giles, Graham G, Severi, Gianluca, Baglietto, Laura, Offit, Kenneth, John, Esther M, Miron, Alexander, Andrulis, Irene L, Knight, Julia A, Glendon, Gord, Mulligan, Anna Marie, Chanock, Stephen J, Lissowska, Jolanta, Liu, Jianjun, Cox, Angela, Cramp, Helen, Connley, Dan, Balasubramanian, Sabapathy, Dunning, Alison M, Shah, Mitul, Trentham-Dietz, Amy, Newcomb, Polly, Titus, Linda, Egan, Kathleen, Cahoon, Elizabeth K, Rajaraman, Preetha, Sigurdson, Alice J, Doody, Michele M, Guénel, Pascal, Pharoah, Paul D. P, Schmidt, Marjanka K, Hall, Per, Easton, Doug F, Garcia-Closas, Montserrat, Milne, Roger L, Chang-Claude, Jenny, and Horwitz, Marshall S

Subjects
Genome-Wide Association, Mammographic Density, 14q24.1 Rad51l1, Hormone-Therapy, Pooled Analysis, Tumor Subtypes, Variants, Consortium, Fgfr2, Women
Published
2013

10. Duffy (Fy), DARC, and neutropenia among women from the United States, Europe and the Caribbean

Author

Grann, Victor R, Ziv, Elad, Joseph, Cecil K, Neugut, Alfred I, Wei, Ying, Jacobson, Judith S, Horwitz, Marshall S, Bowman, Natalie, Beckmann, Kenneth, and Hershman, Dawn L

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Genetics, Prevention, Adult, Aged, Black People, C-Reactive Protein, Caribbean Region, Cross-Sectional Studies, Duffy Blood-Group System, Europe, Female, Genotype, Humans, Leukocyte Count, Linear Models, Middle Aged, Neutropenia, Polymorphism, Single Nucleotide, Receptors, Cell Surface, United States, White People, Young Adult, ethnic neutropenia, chemokines, DARC, African descent, genotype CC, Cardiorespiratory Medicine and Haematology, Immunology, Cardiovascular medicine and haematology
Abstract

Neutropenia associated with race/ethnicity has essentially been unexplained and, although thought to be benign, may affect therapy for cancer or other illnesses. A recent study linked a single nucleotide polymorphism (SNP) (rs2814778) in the Duffy antigen/receptor chemokine gene (DARC) with white blood cell count. We therefore analysed the association of the rs2814778 CC, TC and TT genotypes with absolute neutrophil count (ANC) among asymptomatic women from the Caribbean, Europe and the United States. Among 261 study participants, 33/47 women from Barbados/Trinidad-Tobago, 34/49 from Haiti, 26/37 from Jamaica, and 29/38 US-born black women, but only 4/50 from the Dominican Republic and 0/40 US- or European-born whites (P = 0.0001) had the CC genotype. In a linear regression model that included percentage African ancestry, national origin, cytokines, socio-economic factors and the ELA2 rs57834246 SNP, only the DARC rs2814778 genotype and C-reactive protein were associated with ANC (P < 0.0001). Women with the CC genotype had lower ANC than other women. Further research is needed on the associations of rs2814778 genotype with neutropenia and treatment delay in the setting of cancer. A better understanding of these associations may help to improve cancer outcomes among individuals of African ancestry.

Published
2008

11. Prolonged pharmacological inhibition of cathepsin C results in elimination of neutrophil serine proteases

Author

Guarino, Carla, Hamon, Yveline, Croix, Cécile, Lamort, Anne-Sophie, Dallet-Choisy, Sandrine, Marchand-Adam, Sylvain, Lesner, Adam, Baranek, Thomas, Viaud-Massuard, Marie-Claude, Lauritzen, Conni, Pedersen, John, Heuzé-Vourc'h, Nathalie, Si-Tahar, Mustapha, Fıratlı, Erhan, Jenne, Dieter E., Gauthier, Francis, Horwitz, Marshall S., Borregaard, Niels, and Korkmaz, Brice

Published
2017
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21. Supplementary Table 6 from HIF Induces Human Embryonic Stem Cell Markers in Cancer Cells

Author

Mathieu, Julie, primary, Zhang, Zhan, primary, Zhou, Wenyu, primary, Wang, Amy J., primary, Heddleston, John M., primary, Pinna, Claudia M.A., primary, Hubaud, Alexis, primary, Stadler, Bradford, primary, Choi, Michael, primary, Bar, Merav, primary, Tewari, Muneesh, primary, Liu, Alvin, primary, Vessella, Robert, primary, Rostomily, Robert, primary, Born, Donald, primary, Horwitz, Marshall, primary, Ware, Carol, primary, Blau, C. Anthony, primary, Cleary, Michele A., primary, Rich, Jeremy N., primary, and Ruohola-Baker, Hannele, primary

Published
2023
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22. Supplementary Table 3 from HIF Induces Human Embryonic Stem Cell Markers in Cancer Cells

Author

Mathieu, Julie, primary, Zhang, Zhan, primary, Zhou, Wenyu, primary, Wang, Amy J., primary, Heddleston, John M., primary, Pinna, Claudia M.A., primary, Hubaud, Alexis, primary, Stadler, Bradford, primary, Choi, Michael, primary, Bar, Merav, primary, Tewari, Muneesh, primary, Liu, Alvin, primary, Vessella, Robert, primary, Rostomily, Robert, primary, Born, Donald, primary, Horwitz, Marshall, primary, Ware, Carol, primary, Blau, C. Anthony, primary, Cleary, Michele A., primary, Rich, Jeremy N., primary, and Ruohola-Baker, Hannele, primary

Published
2023
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23. Supplementary Table 1 from HIF Induces Human Embryonic Stem Cell Markers in Cancer Cells

Author

Mathieu, Julie, primary, Zhang, Zhan, primary, Zhou, Wenyu, primary, Wang, Amy J., primary, Heddleston, John M., primary, Pinna, Claudia M.A., primary, Hubaud, Alexis, primary, Stadler, Bradford, primary, Choi, Michael, primary, Bar, Merav, primary, Tewari, Muneesh, primary, Liu, Alvin, primary, Vessella, Robert, primary, Rostomily, Robert, primary, Born, Donald, primary, Horwitz, Marshall, primary, Ware, Carol, primary, Blau, C. Anthony, primary, Cleary, Michele A., primary, Rich, Jeremy N., primary, and Ruohola-Baker, Hannele, primary

Published
2023
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24. Supplementary Table 5 from HIF Induces Human Embryonic Stem Cell Markers in Cancer Cells

Author

Mathieu, Julie, primary, Zhang, Zhan, primary, Zhou, Wenyu, primary, Wang, Amy J., primary, Heddleston, John M., primary, Pinna, Claudia M.A., primary, Hubaud, Alexis, primary, Stadler, Bradford, primary, Choi, Michael, primary, Bar, Merav, primary, Tewari, Muneesh, primary, Liu, Alvin, primary, Vessella, Robert, primary, Rostomily, Robert, primary, Born, Donald, primary, Horwitz, Marshall, primary, Ware, Carol, primary, Blau, C. Anthony, primary, Cleary, Michele A., primary, Rich, Jeremy N., primary, and Ruohola-Baker, Hannele, primary

Published
2023
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25. Supplementary Table 7 from HIF Induces Human Embryonic Stem Cell Markers in Cancer Cells

Author

Mathieu, Julie, primary, Zhang, Zhan, primary, Zhou, Wenyu, primary, Wang, Amy J., primary, Heddleston, John M., primary, Pinna, Claudia M.A., primary, Hubaud, Alexis, primary, Stadler, Bradford, primary, Choi, Michael, primary, Bar, Merav, primary, Tewari, Muneesh, primary, Liu, Alvin, primary, Vessella, Robert, primary, Rostomily, Robert, primary, Born, Donald, primary, Horwitz, Marshall, primary, Ware, Carol, primary, Blau, C. Anthony, primary, Cleary, Michele A., primary, Rich, Jeremy N., primary, and Ruohola-Baker, Hannele, primary

Published
2023
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26. Supplementary Figures 1-12 from HIF Induces Human Embryonic Stem Cell Markers in Cancer Cells

Author

Mathieu, Julie, primary, Zhang, Zhan, primary, Zhou, Wenyu, primary, Wang, Amy J., primary, Heddleston, John M., primary, Pinna, Claudia M.A., primary, Hubaud, Alexis, primary, Stadler, Bradford, primary, Choi, Michael, primary, Bar, Merav, primary, Tewari, Muneesh, primary, Liu, Alvin, primary, Vessella, Robert, primary, Rostomily, Robert, primary, Born, Donald, primary, Horwitz, Marshall, primary, Ware, Carol, primary, Blau, C. Anthony, primary, Cleary, Michele A., primary, Rich, Jeremy N., primary, and Ruohola-Baker, Hannele, primary

Published
2023
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27. Supplementary Methods, Figures 1-11, Table Legends 1-7 from HIF Induces Human Embryonic Stem Cell Markers in Cancer Cells

Author

Mathieu, Julie, primary, Zhang, Zhan, primary, Zhou, Wenyu, primary, Wang, Amy J., primary, Heddleston, John M., primary, Pinna, Claudia M.A., primary, Hubaud, Alexis, primary, Stadler, Bradford, primary, Choi, Michael, primary, Bar, Merav, primary, Tewari, Muneesh, primary, Liu, Alvin, primary, Vessella, Robert, primary, Rostomily, Robert, primary, Born, Donald, primary, Horwitz, Marshall, primary, Ware, Carol, primary, Blau, C. Anthony, primary, Cleary, Michele A., primary, Rich, Jeremy N., primary, and Ruohola-Baker, Hannele, primary

Published
2023
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28. Data from HIF Induces Human Embryonic Stem Cell Markers in Cancer Cells

Author

Mathieu, Julie, primary, Zhang, Zhan, primary, Zhou, Wenyu, primary, Wang, Amy J., primary, Heddleston, John M., primary, Pinna, Claudia M.A., primary, Hubaud, Alexis, primary, Stadler, Bradford, primary, Choi, Michael, primary, Bar, Merav, primary, Tewari, Muneesh, primary, Liu, Alvin, primary, Vessella, Robert, primary, Rostomily, Robert, primary, Born, Donald, primary, Horwitz, Marshall, primary, Ware, Carol, primary, Blau, C. Anthony, primary, Cleary, Michele A., primary, Rich, Jeremy N., primary, and Ruohola-Baker, Hannele, primary

Published
2023
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29. Supplementary Table 4 from HIF Induces Human Embryonic Stem Cell Markers in Cancer Cells

Author

Mathieu, Julie, primary, Zhang, Zhan, primary, Zhou, Wenyu, primary, Wang, Amy J., primary, Heddleston, John M., primary, Pinna, Claudia M.A., primary, Hubaud, Alexis, primary, Stadler, Bradford, primary, Choi, Michael, primary, Bar, Merav, primary, Tewari, Muneesh, primary, Liu, Alvin, primary, Vessella, Robert, primary, Rostomily, Robert, primary, Born, Donald, primary, Horwitz, Marshall, primary, Ware, Carol, primary, Blau, C. Anthony, primary, Cleary, Michele A., primary, Rich, Jeremy N., primary, and Ruohola-Baker, Hannele, primary

Published
2023
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30. Supplementary Table 2 from HIF Induces Human Embryonic Stem Cell Markers in Cancer Cells

Author

Mathieu, Julie, primary, Zhang, Zhan, primary, Zhou, Wenyu, primary, Wang, Amy J., primary, Heddleston, John M., primary, Pinna, Claudia M.A., primary, Hubaud, Alexis, primary, Stadler, Bradford, primary, Choi, Michael, primary, Bar, Merav, primary, Tewari, Muneesh, primary, Liu, Alvin, primary, Vessella, Robert, primary, Rostomily, Robert, primary, Born, Donald, primary, Horwitz, Marshall, primary, Ware, Carol, primary, Blau, C. Anthony, primary, Cleary, Michele A., primary, Rich, Jeremy N., primary, and Ruohola-Baker, Hannele, primary

Published
2023
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33. Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cells

Author

Nayak, Ramesh C., Trump, Lisa R., Aronow, Bruce J., Myers, Kasiani, Mehta, Parinda, Kalfa, Theodosia, Wellendorf, Ashley M., Valencia, C. Alexander, Paddison, Patrick J., Horwitz, Marshall S., Grimes, H. Leighton, Lutzko, Carolyn, and Cancelas, Jose A.

Subjects
Gene mutations -- Analysis -- Health aspects, Neutropenia -- Development and progression -- Analysis -- Risk factors -- Care and treatment -- Research, Stem cells -- Analysis -- Health aspects, Health care industry
Abstract

Severe congenital neutropenia (SCN) is often associated with inherited heterozygous point mutations in ELANE, which encodes neutrophil elastase (NE). However, a lack of appropriate models to recapitulate SCN has substantially hampered the understanding of the genetic etiology and pathobiology of this disease. To this end, we generated both normal and SCN patient-derived induced pluripotent stem cells (iPSCs), and performed genome editing and differentiation protocols that recapitulate the major features of granulopoiesis. Pathogenesis of ELANE point mutations was the result of promyelocyte death and differentiation arrest, and was associated with NE mislocalization and activation of the unfolded protein response/ER stress (UPR/ER stress). Similarly, high-dose G-CSF (or downstream signaling through AKT/BCL2) rescues the dysgranulopoietic defect in SCN patient-derived iPSCs through C/EBPβ-dependent emergency granulopoiesis. In contrast, sivelestat, an NE-specific small-molecule inhibitor, corrected dysgranulopoiesis by restoring normal intracellular NE localization in primary granules; ameliorating UPR/ER stress; increasing expression of CEBPA, but not CEBPB; and promoting promyelocyte survival and differentiation. Together, these data suggest that SCN disease pathogenesis includes NE mislocalization, which in turn triggers dysfunctional survival signaling and UPR/ER stress. This paradigm has the potential to be clinically exploited to achieve therapeutic responses using lower doses of G-CSF combined with targeting to correct NE mislocalization., Introduction Severe congenital neutropenia (SCN) is a rare myelopoietic disorder resulting in recurrent life-threatening infections due to a lack of mature neutrophils (1). Individuals with SCN have myeloid hypoplasia with [...]

Published
2015
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35. Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

Author

Kazenwadel, Jan, Secker, Genevieve A., Liu, Yajuan J., Rosenfeld, Jill A., Wildin, Robert S., Cuellar-Rodriguez, Jennifer, Hsu, Amy P., Dyack, Sarah, Fernandez, Conrad V., Chong, Chan-Eng, Babic, Milena, Bardy, Peter G., Shimamura, Akiko, Zhang, Michael Y., Walsh, Tom, Holland, Steven M., Hickstein, Dennis D., Horwitz, Marshall S., Hahn, Christopher N., Scott, Hamish S., and Harvey, Natasha L.

Published
2012
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38. Mutations in a Gene Encoding a Midbody Kelch Protein in Familial and Sporadic Classical Hodgkin Lymphoma Lead to Binucleated Cells

Author

Salipante, Stephen J., Mealiffe, Matthew E., Wechsler, Jeremy, Krem, Maxwell M., Liu, Yajuan, Namkoong, Shinae, Bhagat, Govind, Kirchhoff, Tomas, Offit, Kenneth, Lynch, Henry, Wiernik, Peter H., Roshal, Mikhail, McMaster, Mary Lou, Tucker, Margaret, Fromm, Jonathan R., Goldin, Lynn R., Horwitz, Marshall S., and King, Mary-Claire

Published
2009
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