The Endoplasmic Reticulum Cargo Receptor SURF4 Facilitates Efficient Erythropoietin Secretion
Lin, Zesen, King, Richard, Tang, Vi, Myers, Greggory, Balbin-Cuesta, Ginette, Friedman, Ann, McGee, Beth, Desch, Karl, Ozel, Ayse Bilge, Siemieniak, David, Reddy, Pavan, Emmer, Brian, Khoriaty, Rami
Published in Molecular and cellular biology (06.11.2020)
Published in Molecular and cellular biology (06.11.2020)
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Increased soluble urokinase plasminogen activator levels modulate monocyte function to promote atherosclerosis
Hindy, George, Tyrrell, Daniel J, Vasbinder, Alexi, Wei, Changli, Presswalla, Feriel, Wang, Hui, Blakely, Pennelope, Ozel, Ayse Bilge, Graham, Sarah, Holton, Grace H, Dowsett, Joseph, Fahed, Akl C, Amadi, Kingsley-Michael, Erne, Grace K, Tekmulla, Annika, Ismail, Anis, Launius, Christopher, Sotoodehnia, Nona, Pankow, James S, Thørner, Lise Wegner, Erikstrup, Christian, Pedersen, Ole Birger, Banasik, Karina, Brunak, Søren, Ullum, Henrik, Eugen-Olsen, Jesper, Ostrowski, Sisse Rye, Haas, Mary E, Nielsen, Jonas B, Lotta, Luca A, Engström, Gunnar, Melander, Olle, Orho-Melander, Marju, Zhao, Lili, Murthy, Venkatesh L, Pinsky, David J, Willer, Cristen J, Heckbert, Susan R, Reiser, Jochen, Goldstein, Daniel R, Desch, Karl C, Hayek, Salim S
Published in The Journal of clinical investigation (15.12.2022)
Published in The Journal of clinical investigation (15.12.2022)
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Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice
Garnai, Sarah J, Brinkmeier, Michelle L, Emery, Ben, Aleman, Tomas S, Pyle, Louise C, Veleva-Rotse, Biliana, Sisk, Robert A, Rozsa, Frank W, Ozel, Ayse Bilge, Li, Jun Z, Moroi, Sayoko E, Archer, Steven M, Lin, Cheng-Mao, Sheskey, Sarah, Wiinikka-Buesser, Laurel, Eadie, James, Urquhart, Jill E, Black, Graeme C M, Othman, Mohammad I, Boehnke, Michael, Sullivan, Scot A, Skuta, Gregory L, Pawar, Hemant S, Katz, Alexander E, Huryn, Laryssa A, Hufnagel, Robert B, Camper, Sally A, Richards, Julia E, Prasov, Lev
Published in PLoS genetics (01.05.2019)
Published in PLoS genetics (01.05.2019)
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Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels
Ji, Yuekai, Temprano-Sagrera, Gerard, Holle, Lori A, Bebo, Allison, Brody, Jennifer A, Le, Ngoc-Quynh, Kangro, Kadri, Brown, Michael R, Martinez-Perez, Angel, Sitlani, Colleen M, Suchon, Pierre, Kleber, Marcus E, Emmert, David B, Bilge Ozel, Ayse, Dobson, Dre'Von A, Tang, Weihong, Llobet, Dolors, Tracy, Russell P, Deleuze, Jean-François, Delgado, Graciela E, Gögele, Martin, Wiggins, Kerri L, Souto, Juan Carlos, Pankow, James S, Taylor, Kent D, Trégouët, David-Alexandre, Moissl, Angela P, Fuchsberger, Christian, Rosendaal, Frits R, Morrison, Alanna C, Soria, Jose Manuel, Cushman, Mary, Morange, Pierre-Emmanuel, März, Winfried, Hicks, Andrew A, Desch, Karl C, Johnson, Andrew D, de Vries, Paul S, Wolberg, Alisa S, Smith, Nicholas L, Sabater-Lleal, Maria
Published in Arteriosclerosis, thrombosis, and vascular biology (01.07.2023)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.07.2023)
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Journal Article
Extended regions of suspected mis-assembly in the rat reference genome
Ramdas, Shweta, Ozel, Ayse Bilge, Treutelaar, Mary K., Holl, Katie, Mandel, Myrna, Woods, Leah C. Solberg, Li, Jun Z.
Published in Scientific data (23.04.2019)
Published in Scientific data (23.04.2019)
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Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum
Nakaguma, Marilena, Ferreira, Nathalia Garcia Bianchi Pereira, Benedetti, Anna Flavia Figueredo, Madi, Mariana Cotarelli, Silva, Juliana Moreira, Li, Jun Z, Ma, Qianyi, Bilge Ozel, Ayse, Fang, Qing, Narcizo, Amanda de Moraes, Cardoso, Laís Cavalca, Montenegro, Luciana Ribeiro, Funari, Mariana Ferreira de Assis, Nishi, Mirian Yumie, Arnhold, Ivo Jorge Prado, Jorge, Alexander Augusto de Lima, Mendonca, Berenice Bilharinho de, Camper, Sally Ann, Carvalho, Luciani R
Published in Genes (25.07.2021)
Published in Genes (25.07.2021)
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Genetic variants in ADAMTS13 as well as smoking are major determinants of plasma ADAMTS13 levels
Ma, Qianyi, Jacobi, Paula M., Emmer, Brian T., Kretz, Colin A., Ozel, Ayse Bilge, McGee, Beth, Kimchi-Sarfaty, Chava, Ginsburg, David, Li, Jun Z., Desch, Karl C.
Published in Blood advances (27.06.2017)
Published in Blood advances (27.06.2017)
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Minimizing the surface effect of PDMS-glass microchip on polymerase chain reaction by dynamic polymer passivation
Xia, Yong-Mei, Hua, Zhi-Shan, Srivannavit, Onnop, Ozel, Ayse Bilge, Gulari, Erdogan
Published in Journal of chemical technology and biotechnology (1986) (01.01.2007)
Published in Journal of chemical technology and biotechnology (1986) (01.01.2007)
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Journal Article
Identification of Novel Regulators of Erythropoiesis Using Whole-Genome CRISPR-Cas9 Screening
Myers, Greggory, Yu, Lei, Balbin-Cuesta, Ginette, Ozel, Ayse Bilge, Engel, James Douglas, Khoriaty, Rami
Published in Blood (15.11.2022)
Published in Blood (15.11.2022)
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Journal Article
Whole-Genome CRISPR-Cas9 Screening Identifies Genes Required for Human and Mouse Erythroid Development
Myers, Greggory, Friedman, Ann, Yu, Lei, Kerpet, Claire, Ito, Masaki, Saba, Rilie, Balbin-Cuesta, Ginette, Lin, Zesen, Drysdale, Claire, Ozel, Ayse Bilge, Engel, James, Khoriaty, Rami
Published in Blood (02.11.2023)
Published in Blood (02.11.2023)
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Journal Article
The CDK-Inhibitor p27 Kip1 Regulates Fetal Hemoglobin Expression
Balbin-Cuesta, Ginette, Myers, Greggory, Kerpet, Claire, McGee, Beth, Rybkin, Katherine, Lin, Zesen, Drysdale, Claire, Friedman, Ann, Singh, Sharon A, Yu, Lei, Ozel, Ayse Bilge, Khoriaty, Rami
Published in Blood (02.11.2023)
Published in Blood (02.11.2023)
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Journal Article
Identification of CNOT4 As a Positive Regulator of Erythroid Cell Growth Using a Genome Wide CRISPR Knock-out Screen
Drysdale, Claire, Myers, Greggory, Yu, Lei, Friedman, Ann, Kerpet, Claire, Balbin-Cuesta, Ginette, Lin, Zesen, Ozel, Ayse Bilge, Engel, James, Khoriaty, Rami
Published in Blood (02.11.2023)
Published in Blood (02.11.2023)
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Journal Article
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects
Seong, Eunju, Insolera, Ryan, Dulovic, Marija, Kamsteeg, Erik‐Jan, Trinh, Joanne, Brüggemann, Norbert, Sandford, Erin, Li, Sheng, Ozel, Ayse Bilge, Li, Jun Z., Jewett, Tamison, Kievit, Anneke J. A., Münchau, Alexander, Shakkottai, Vikram, Klein, Christine, Collins, Catherine A., Lohmann, Katja, Warrenburg, Bart P., Burmeister, Margit
Published in Annals of neurology (01.06.2018)
Published in Annals of neurology (01.06.2018)
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A vagal–brainstem interoceptive circuit for cough-like defensive behaviors in mice
Gannot, Noam, Li, Xingyu, Phillips, Chrystian D., Ozel, Ayse Bilge, Uchima Koecklin, Karin Harumi, Lloyd, John P., Zhang, Lusi, Emery, Katie, Stern, Tomer, Li, Jun Z., Li, Peng
Published in Nature neuroscience (01.09.2024)
Published in Nature neuroscience (01.09.2024)
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Journal Article
A Genome Scale CRISPR Screen Identifies Novel Genes That Regulate Erythropoietin Production
Lin, Zesen, Balbin-Cuesta, Ginette, Myers, Greggory, Yu, Lei, Drysdale, Claire, Tang, Vi, Ozel, Ayse Bilge, Friedman, Ann, McGee, Beth, Ito, Masaki, Saba, Rilie, Kerpet, Claire, King, Richard, Patrick, Gallagher, Engel, James, Khoriaty, Rami
Published in Blood (02.11.2023)
Published in Blood (02.11.2023)
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Journal Article
Identifying Novel Regulators of γ-Globin Expression Using a Genome-Scale CRISPR Activation Screen
Balbin-Cuesta, Ginette, Myers, Greggory, Lin, Zesen, Kerpet, Claire, McGee, Beth, Rybkin, Katherine, King, Richard, Drysdale, Claire, Friedman, Ann, Yu, Lei, Ito, Masaki, Saba, Rilie, Ozel, Ayse Bilge, Khoriaty, Rami
Published in Blood (02.11.2023)
Published in Blood (02.11.2023)
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Journal Article
Genome‐wide linkage analysis and whole‐exome sequencing identifies an ITGA2B mutation in a family with thrombocytopenia
Khoriaty, Rami, Ozel, Ayse B., Ramdas, Shweta, Ross, Charles, Desch, Karl, Shavit, Jordan A., Everett, Lesley, Siemieniak, David, Li, Jun Z., Ginsburg, David
Published in British journal of haematology (01.08.2019)
Published in British journal of haematology (01.08.2019)
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Journal Article
Antithrombin, PC (Protein C), and PS (Protein S): Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels
Ji, Yuekai, Temprano-Sagrera, Gerard, Holle, Lori A., Bebo, Allison, Brody, Jennifer, Le, Ngoc-Quynh, Kangro, Kadri, Brown, Michael R., Martinez-Perez, Angel, Sitlani, Colleen M., Suchon, Pierre, Kleber, Marcus E., Emmert, David B., Bilge Ozel, Ayse, Dobson, Dre'von A., Tang, Weihong, Llobet, Dolors, Tracy, Russell P, Deleuze, Jean-Francois, Delgado, Graciela E., Gogele, Martin, Wiggins, Kerri L., Souto, Juan Carlos, Pankow, James S., Taylor, Kent D., Tregouet, David-Alexandre, Moissl, Angela P., Fuchsberger, Christian, Rosendaal, Frits R., Morrison, Alanna C., Soria, Jose Manuel, Cushman, Mary, Morange, Pierre-Emmanuel, Marz, Winfried, Hicks, Andrew A., Desch, Karl C., Johnson, Andrew D., de Vries, Paul S., Wolberg, Alisa S., Smith, Nicholas L., Sabater-Lleal, Maria
Published in Arteriosclerosis, thrombosis, and vascular biology (27.04.2023)
Published in Arteriosclerosis, thrombosis, and vascular biology (27.04.2023)
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The phenotypic spectrum associated with OTX2 mutations in humans
Gregory, Louise C, Gergics, Peter, Nakaguma, Marilena, Bando, Hironori, Patti, Giuseppa, McCabe, Mark J, Fang, Qing, Ma, Qianyi, Ozel, Ayse Bilge, Li, Jun Z, Poina, Michele Moreira, Jorge, Alexander A L, Benedetti, Anna F Figueredo, Lerario, Antonio M, Arnhold, Ivo J P, Mendonca, Berenice B, Maghnie, Mohamad, Camper, Sally A, Carvalho, Luciani R S, Dattani, Mehul T
Published in European journal of endocrinology (25.05.2021)
Published in European journal of endocrinology (25.05.2021)
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Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
Lessel, Davor, Ozel, Ayse Bilge, Campbell, Susan E., Saadi, Abdelkrim, Arlt, Martin F., McSweeney, Keisha Melodi, Plaiasu, Vasilica, Szakszon, Katalin, Szőllős, Anna, Rusu, Cristina, Rojas, Armando J., Lopez-Valdez, Jaime, Thiele, Holger, Nürnberg, Peter, Nickerson, Deborah A., Bamshad, Michael J., Li, Jun Z., Kubisch, Christian, Glover, Thomas W., Gordon, Leslie B.
Published in Human genetics (01.12.2018)
Published in Human genetics (01.12.2018)
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