ADAR regulates APOL1 via A-to-I RNA editing by inhibition of MDA5 activation in a paradoxical biological circuit

Authors: Nephrotic Syndrome Study Network (NEPTUNE), Riella, Cristian V., McNulty, Michelle, Ribas, Guilherme T., Tattersfield, Calum F., Perez-Gill, Chandra, Eichinger, Felix, Kelly, Jessica, Chun, Justin, Subramanian, Balajikarthick, Guizelini, Dieval, Alper, Seth L., Pollak, Martin R., Sampson, Matthew G., Friedman, David J.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2022 Nov 01. 119(44), 1-12.

Access URL: https://www.jstor.org/stable/27209040

Development and Initial Validation of the Parent and Family Engagement in Higher Education Measure

Authors: McNulty, Michelle R.

Source: ProQuest LLC. 2022Ph.D. Dissertation, University of South Florida.

Peer Reviewed: N

Page Count: 165

Descriptors: Test Construction, Test Validity, Parent Participation, College Students, Family Needs, Test Reliability, Factor Analysis

Access URL: https://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqm&rft_dat=xri:pqdiss:29064987

A glomerular transcriptomic landscape of apolipoprotein L1 in Black patients with focal segmental glomerulosclerosis

Authors: McNulty, Michelle T., Fermin, Damian, Eichinger, Felix, Jang, Dongkeun, Kretzler, Matthias, Burtt, Noël P., Pollak, Martin R., Flannick, Jason, Weins, Astrid, Friedman, David J., Sampson, Matthew G.

Source: Kidney international. 102(1):136-148

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100166477800.0x000001&indx=1&recIds=ETOCvdc_100166477800.0x000001

A glomerular transcriptomic landscape of apolipoprotein L1 in Black patients with focal segmental glomerulosclerosis

Authors: Dell, K., Sedor, J., Schachere, M., Negrey, J., Lemley, K., Silesky, B., Srivastava, T., Garrett, A., Sethna, C., Laurent, K., Canetta, P., Pradhan, A., Greenbaum, L., Wang, C., Kang, C., Adler, S., LaPage, J., Athavale, A., Itteera, M., Atkinson, M., Dell, T., Fervenza, F., Hogan, M., Lieske, J., Chernitskiy, V., Kaskel, F., Ross, M., Flynn, P., Kopp, J., Blake, J., Trachtman, H., Zhdanova, O., Modersitzki, F., Vento, S., Lafayette, R., Mehta, K., Gadegbeku, C., Quinn-Boyle, S., Hladunewich, M., Reich, H., Ling, P., Romano, M., Fornoni, A., Bidot, C., Kretzler, M., Gipson, D., Williams, A., Klida, C., Derebail, V., Gibson, K., Cole, E., Ormond-Foster, J., Holzman, L., Meyers, K., Kallem, K., Swenson, A., Sambandam, K., Wang, Z., Rogers, M., Jefferson, A., Hingorani, S., Tuttle, K., Bray, M., Pao, E., Cooper, A., Lin, J.J., Baker, Stefanie, Barisoni, L., Bixler, J., Desmond, H., Eddy, S., Fermin, D., Gillespie, B., Kurtz, V., Larkina, M., Li, S., Lienczewski, C.C., Liu, J., Mainieri, T., Mariani, L., Sampson, M., Smith, A., Zee, J., Avila-Casado, Carmen, Bagnasco, Serena, Gaut, Joseph, Hewitt, Stephen, Hodgin, Jeff, Lemley, Kevin, Mariani, Laura, Palmer, Matthew, Rosenberg, Avi, Royal, Virginie, Thomas, David, Zee, Jarcy, Barisoni, Laura, Nast, Cynthia, McNulty, Michelle T., Fermin, Damian, Eichinger, Felix, Jang, Dongkeun, Kretzler, Matthias, Burtt, Noël P., Pollak, Martin R., Flannick, Jason, Weins, Astrid, Friedman, David J., Sampson, Matthew G.

Source: In Kidney International July 2022 102(1):136-148

The APOL1 p.N264K variant is co-inherited with the G2 kidney disease risk variant through a proximity recombination event.

Authors: Simeone, Christopher A^1,2 (AUTHOR), McNulty, Michelle T^3,4 (AUTHOR), Gupta, Yask⁵ (AUTHOR), Genovese, Giulio^1,6 (AUTHOR), Sampson, Matthew G^1,3,4,7 (AUTHOR), Sanna-Cherchi, Simone⁵ (AUTHOR), Friedman, David J^1,2 (AUTHOR), Pollak, Martin R^1,2 (AUTHOR)

Source: G3: Genes | Genomes | Genetics. Feb2025, Vol. 15 Issue 2, p1-6. 6p.

Subject Terms: *HAPLOTYPES, *DISEASE risk factors, *MISSENSE mutation, *DISEASE susceptibility, *AFRICAN Americans

Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome

Authors: Araki, Yoshinori, Nagaoka, Yoshinobu, Okamoto, Takayuki, Sato, Yasuyuki, Hayashi, Asako, Takahashi, Toshiyuki, Aoyagi, Hayato, Ueno, Michihiko, Nakanishi, Masanori, Toita, Nariaki, Uetake, Kimiaki, Kobayashi, Norio, Fujita, Shoji, Tsuruga, Kazushi, Kumagai, Naonori, Kudo, Hiroki, Tanaka, Eriko, Omori, Tae, Okada, Mari, Hatai, Yoshiho, Udagawa, Tomohiro, Motoyoshi, Yaeko, Ishikura, Kenji, Kamei, Koichi, Ogura, Masao, Sato, Mai, Kano, Yuji, Hattori, Motoshi, Miura, Kenichiro, Harita, Yutaka, Kanda, Shoichiro, Sawanobori, Emi, Kobayashi, Anna, Kojika, Manabu, Ohwada, Yoko, Yan, Kunimasa, Hataya, Hiroshi, Hamada, Riku, Terano, Chikako, Harada, Ryoko, Hamasaki, Yuko, Hashimoto, Junya, Ito, Shuichi, Machida, Hiroyuki, Inaba, Aya, Matsuyama, Takeshi, Goto, Miwa, Shimizu, Masaki, Ohta, Kazuhide, Ikezumi, Yohei, Yamada, Takeshi, Suzuki, Toshiaki, Tamamura, Soichi, Mori, Yukiko, Hidaka, Yoshihiko, Matsuoka, Daisuke, Kinoshita, Tatsuya, Noda, Shunsuke, Kitahara, Masashi, Fujita, Naoya, Hibino, Satoshi, Iijima, Kazumoto, Nozu, Kandai, Kaito, Hiroshi, Minamikawa, Shogo, Yamamura, Tomohiko, Nagano, China, Horinouchi, Tomoko, Nakanishi, Keita, Fujimura, Junya, Sakakibara, Nana, Aoto, Yuya, Ishiko, Shinya, Tanaka, Ryojiro, Kanda, Kyoko, Inaguma, Yosuke, Hashimura, Yuya, Ishimori, Shingo, Kamiyoshi, Naohiro, Shibano, Takayuki, Takeshima, Yasuhiro, Fujimaru, Rika, Ueda, Hiroaki, Ashida, Akira, Matsumura, Hideki, Kubota, Takuo, Kitaoka, Taichi, Okuda, Yusuke, Sawai, Toshihiro, Sakai, Tomoyuki, Shima, Yuko, Hama, Taketsugu, Fujieda, Mikiya, Ishihara, Masayuki, Itoh, Shigeru, Iwaki, Takuma, Shimizu, Maki, Nagatani, Koji, Kagami, Shoji, Urushihara, Maki, Kaku, Yoshitsugu, Nishimura, Manao, Yoshino, Miwa, Hatae, Ken, Hinokiyama, Maiko, Kuroki, Rie, Ohtsuka, Yasufumi, Oka, Masafumi, Nishimura, Shinji, Sato, Tadashi, Tanaka, Seiji, Zaitsu, Ayuko, Nakazato, Hitoshi, Tamura, Hiroshi, Nakanishi, Koichi, Cho, Min Hyun, Ha, Tae-Sun, Cheong, Hae Il, Kang, Hee Gyung, Ha, Il-Soo, Kim, Ji Hyun, Park, Peong Gang, Cho, Myung Hyun, Han, Kyoung Hee, Yang, Eun Mi, Quiroga, Alejandro, Moudgil, Asha, Chavers, Blanche, Kwon, Charles, Bowers, Corinna, Gipson, Deb, Chand, Deepa, Weaver, Donald Jack, Abraham, Elizabeth, Janjua, Halima, Lin, Jen-Jar, Greenbaum, Larry, Kallash, Mahmoud, Rheault, Michelle, De Jeus Gonzalez, Nilka, Brophy, Patrick, Gbadegesin, Rasheed, Nagaraj, Shashi, Massengill, Susan, Srivastava, Tarak, Hunley, Tray, Cai, Yi, Omoloja, Abiodun, Silva, Cynthia, Adeyemo, Adebowale, Thalgahagoda, Shenal, Kari, Jameela A., El Desoky, Sherif, Abdelhadi, Mohammed, Akil, Rachida, Azib, Sonia, Basmaci, Romain, Benoist, Gregoire, Bensaid, Philippe, Blanc, Philippe, Boyer, Olivia, Bucher, Julie, Chace, Anne, Chalvon, Arnaud, Cheminee, Marion, Chendjou, Sandrine, Daoud, Patrick, Deschênes, Georges, Dossier, Claire, Elias, Ossam, Gagliadone, Chantal, Gajdos, Vincent, Galerne, Aurélien, Aigrain, Evelyne Jacqz, Sanchez, Lydie Joly, Khaled, Mohamed, Khelfaoui, Fatima, Laoudi, Yacine, Larakeb, Anis, Limani, Tarek, Mahdi, Fouad, Mandelcwaijg, Alexis, Muller, Stephanie, Nacer, Kacem, Nathanson, Sylvie, Pellegrino, Béatrice, Pharaon, Isabelle, Roudault, Véronica, Rouget, Sébastien, Saf, Marc, Simon, Tabassom, Tahiri, Cedric, Ulinski, Tim, Zenkhri, Férielle, Jia, Xiaoyuan, McNulty, Michelle T., Song, Kyuyong, Hitomi, Yuki, Lee, Dongwon, Aiba, Yoshihiro, Khor, Seik-Soon, Ueno, Kazuko, Kawai, Yosuke, Nagasaki, Masao, Noiri, Eisei, Baek, Jiwon, Abeyagunawardena, Asiri, Lane, Brandon, Chryst-Stangl, Megan, Esezobor, Christopher, Solarin, Adaobi, Vivarelli, Marina, Debiec, Hanna, Matsuo, Masafumi, Ronco, Pierre, Sampson, Matthew G., Tokunaga, Katsushi

Source: In Kidney International November 2020 98(5):1308-1322

Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome

Authors: Jia, Xiaoyuan, Yamamura, Tomohiko, Gbadegesin, Rasheed, McNulty, Michelle T., Song, Kyuyong, Nagano, China, Hitomi, Yuki, Lee, Dongwon, Aiba, Yoshihiro, Khor, Seik-Soon, Ueno, Kazuko, Kawai, Yosuke, Nagasaki, Masao, Noiri, Eisei, Horinouchi, Tomoko, Kaito, Hiroshi, Hamada, Riku, Okamoto, Takayuki, Kamei, Koichi, Kaku, Yoshitsugu, Fujimaru, Rika, Tanaka, Ryojiro, Shima, Yuko, Baek, Jiwon, Kang, Hee Gyung, Ha, Il-Soo, Han, Kyoung Hee, Yang, Eun Mi, Abeyagunawardena, Asiri, Lane, Brandon, Chryst-Stangl, Megan, Esezobor, Christopher, Solarin, Adaobi, Dossier, Claire, Deschênes, Georges, Vivarelli, Marina, Debiec, Hanna, Ishikura, Kenji, Matsuo, Masafumi, Nozu, Kandai, Ronco, Pierre, Cheong, Hae Il, Sampson, Matthew G., Tokunaga, Katsushi, Iijima, Kazumoto

Source: Kidney international. 98(5):1308-1322

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121486655.0x000001&indx=1&recIds=ETOCvdc_100121486655.0x000001

An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome

Authors: Sedor, John, Dell, Katherine, Schachere, Marleen, Lemley, Kevin, Whitted, Lauren, Srivastava, Tarak, Haney, Connie, Sethna, Christine, Grammatikopoulos, Kalliopi, Appel, Gerald, Toledo, Michael, Greenbaum, Laurence, Wang, Chia-shi, Lee, Brian, Adler, Sharon, Nast, Cynthia, LaPage, Janine, Athavale, Ambarish, Neu, Alicia, Boynton, Sara, Fervenza, Fernando, Hogan, Marie, Lieske, John C., Chernitskiy, Vladimir, Kaskel, Frederick, Kumar, Neelja, Flynn, Patricia, Kopp, Jeffrey, Castro-Rubio, Eveleyn, Blake, Jodi, Trachtman, Howard, Zhdanova, Olga, Modersitzki, Frank, Vento, Suzanne, Lafayette, Richard, Mehta, Kshama, Gadegbeku, Crystal, Johnstone, Duncan, Cattran, Daniel, Hladunewich, Michelle, Reich, Heather, Ling, Paul, Romano, Martin, Fornoni, Alessia, Barisoni, Laura, Bidot, Carlos, Kretzler, Matthias, Gipson, Debbie, Williams, Amanda, Pitter, Renee, Nachman, Patrick, Gibson, Keisha, Grubbs, Sandra, Froment, Anne, Holzman, Lawrence, Meyers, Kevin, Kallem, Krishna, Cerecino, Fumei, Sambandam, Kamal, Brown, Elizabeth, Johnson, Natalie, Jefferson, Ashley, Hingorani, Sangeeta, Tuttle, Kathleen, Curtin, Laura, Dismuke, S., Cooper, Ann, Freedman, Barry, Lin, Jen Jar, Gray, Stefanie, Barisoni, Larua, Gillespie, Brenda, Mariani, Laura, Sampson, Matthew G., Song, Peter, Troost, Johnathan, Zee, Jarcy, Herreshoff, Emily, Kincaid, Colleen, Lienczewski, Chrysta, Mainieri, Tina, Abbott, Kevin, Roy, Cindy, Urv, Tiina, Brooks, John, Gillies, Christopher E., Putler, Rosemary, Menon, Rajasree, Otto, Edgar, Yasutake, Kalyn, Nair, Viji, Hoover, Paul, Lieb, David, Li, Shuqiang, Eddy, Sean, Fermin, Damian, McNulty, Michelle T., Hacohen, Nir, Kiryluk, Krzysztof, Wen, Xiaoquan

Source: In The American Journal of Human Genetics 2 August 2018 103(2):232-244

An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome

Authors: Gillies, Christopher E., Putler, Rosemary, Menon, Rajasree, Otto, Edgar, Yasutake, Kalyn, Nair, Viji, Hoover, Paul, Lieb, David, Li, Shuqiang, Eddy, Sean, Fermin, Damian, McNulty, Michelle T., Hacohen, Nir, Kiryluk, Krzysztof, Kretzler, Matthias, Wen, Xiaoquan, Sampson, Matthew G.

Source: American journal of human genetics. 103(2):232-244

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100111479224.0x000001&indx=1&recIds=ETOCvdc_100111479224.0x000001

APOL1 genotype-associated morphologic changes among patients with focal segmental glomerulosclerosis.

Authors: Zee, Jarcy¹ Jarcy.Zee@Pennmedicine.upenn.edu, McNulty, Michelle T.², Hodgin, Jeffrey B.³, Zhdanova, Olga⁴, Hingorani, Sangeeta⁵, Jefferson, Jonathan Ashley⁶, Gibson, Keisha L.⁷, Trachtman, Howard⁸, Fornoni, Alessia⁹, Dell, Katherine M.¹⁰, Reich, Heather N.¹¹, Bagnasco, Serena¹², Greenbaum, Larry A.¹³, Lafayette, Richard A.¹⁴, Gipson, Debbie S.¹⁵, Brown, Elizabeth¹⁶, Kretzler, Matthias¹⁷, Appel, Gerald¹⁸, Sambandam, Kamalanathan K.¹⁹, Tuttle, Katherine R.^20,21

Source: Pediatric Nephrology. Sep2021, Vol. 36 Issue 9, p2747-2757. 11p. 1 Color Photograph, 1 Chart, 2 Graphs.

Subject Terms: *GENETIC mutation, *KIDNEYS, *BIOPSY, *BLACK people, *MICROSCOPY, *ALLELES, *KIDNEY diseases, *APOLIPOPROTEINS, *GENOTYPES, *MESSENGER RNA, *DESCRIPTIVE statistics, *FOCAL segmental glomerulosclerosis, *LONGITUDINAL method, *KIDNEY glomerulus, *CYTOPLASM

Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.

Authors: Gupta, Yask, Friedman, David J., McNulty, Michelle T., Khan, Atlas, Lane, Brandon, Wang, Chen, Ke, Juntao, Jin, Gina, Wooden, Benjamin, Knob, Andrea L., Lim, Tze Y., Appel, Gerald B., Huggins, Kinsie, Liu, Lili, Mitrotti, Adele, Stangl, Megan C., Bomback, Andrew, Westland, Rik, Bodria, Monica, Marasa, Maddalena

Source: Nature Communications; 5/6/2023, p1-8, 8p

Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.

Authors: Barry, Alexandra, McNulty, Michelle T., Jia, Xiaoyuan, Gupta, Yask, Debiec, Hanna, Luo, Yang, Nagano, China, Horinouchi, Tomoko, Jung, Seulgi, Colucci, Manuela, Ahram, Dina F., Mitrotti, Adele, Sinha, Aditi, Teeninga, Nynke, Jin, Gina, Shril, Shirlee, Caridi, Gianluca, Bodria, Monica, Lim, Tze Y., Westland, Rik

Source: Nature Communications; 4/29/2023, Vol. 14 Issue 1, p1-13, 13p

Subject Terms: GENOME-wide association studies, NEPHROTIC syndrome, DISEASE risk factors, MONOCYTES, MONOGENIC & polygenic inheritance (Genetics), IMMUNOGENETICS, KIDNEY glomerulus diseases

Mapping genomic regulation of kidney disease and traits through high-resolution and interpretable eQTLs.

Authors: Han, Seong Kyu, McNulty, Michelle T., Benway, Christopher J., Wen, Pei, Greenberg, Anya, Onuchic-Whitford, Ana C., Nephrotic Syndrome Study Network (NEPTUNE), Jang, Dongkeun, Flannick, Jason, Burtt, Noël P., Wilson, Parker C., Humphreys, Benjamin D., Wen, Xiaoquan, Han, Zhe, Lee, Dongwon, Sampson, Matthew G.

Source: Nature Communications; 4/19/2023, Vol. 14 Issue 1, p1-16, 16p

Subject Terms: LOCUS (Genetics), KIDNEY diseases, GENOME-wide association studies, GENETIC variation, RENAL biopsy

ADAR regulates APOL1 via A-to-I RNA editing by inhibition of MDA5 activation in a paradoxical biological circuit.

Authors: Riella, Cristian V.^1,2, McNulty, Michelle^3,4, Ribas, Guilherme T.^5,6, Tattersfield, Calum F.¹, Perez-Gill, Chandra¹, Eichinger, Felix⁷, Kelly, Jessica¹, Chun, Justin^8,9, Subramanian, Balajikarthick^1,2, Guizelini, Dieval⁵, Alper, Seth L.^1,2,4, Pollak, Martin R.^1,2,4 mpollak@bidmc.harvard.edu, Sampson, Matthew G.^2,3,4 matthew.sampson@childrens.harvard.edu, Friedman, David J.^1,2,4 dfriedma@bidmc.harvard.edu

Source: Proceedings of the National Academy of Sciences of the United States of America. 11/1/2022, Vol. 119 Issue 44, p1-12. 13p.

Subject Terms: *RNA editing, *TYPE I interferons, *GENE expression, *DISEASE risk factors, *DOUBLE-stranded RNA, *MOTION picture editing, *POST-production in motion pictures

Phenome-Wide Association Study of APOL1 Risk Genotypes in the Mass General Brigham Biobank Using Data-Driven Disease Association Clustering

Authors: Vanderwall, David R., Mcnulty, Michelle, Wongboonsin, Janewit, Sampson, Matt G.

Source: Journal of the American Society of Nephrology; October 2024, Vol. 35 Issue: 10, Number 10 Supplement 10

Kidney Outcomes in APOL1 High-Risk and Mendelian Variant in Patients with Adult Nephrotic Syndrome in Mass General Brigham Biobank

Authors: Wongboonsin, Janewit, Greenberg, Anya, Mcnulty, Michelle, Onuchic-Whitford, Ana C., Lee, Dongwon, Nigwekar, Sagar U., Sampson, Matt G.

Source: Journal of the American Society of Nephrology; October 2024, Vol. 35 Issue: 10, Number 10 Supplement 10

Recessive Variants in the Intergenic NOS1AP-C1orf226 Locus Cause Monogenic Kidney Disease

Authors: Buerger, Florian, Gauntner, Victoria C., Sharma, Vineeta, Guerrero Castillo, Sergio, Sun, Liang, Gomez, Alexis C., Mcnulty, Michelle, Sampson, Matt G., Al-hamed, Mohamed, Fawcett, James P., Hildebrandt, Friedhelm, Majmundar, Amar J.

Source: Journal of the American Society of Nephrology; October 2024, Vol. 35 Issue: 10, Number 10 Supplement 10

Genome-Wide Glomerular Allele-Specific Expression in Human Proteinuric Kidney Tissue

Authors: Onuchic-Whitford, Ana C., Sung, Junmo, Sakkas, Erotokritos, Mcnulty, Michelle, Greenberg, Anya, Yoon, Jihoon, Badina, Sowmya, Sampson, Matt G., Lee, Dongwon

Source: Journal of the American Society of Nephrology; October 2024, Vol. 35 Issue: 10, Number 10 Supplement 10

This result is not displayed to guests.
Login for full access.

Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney

Authors: Eales, James M., Jiang, Xiao, Xu, Xiaoguang, Saluja, Sushant, Akbarov, Artur, Cano-Gamez, Eddie, McNulty, Michelle T., Finan, Christopher, Guo, Hui, Wystrychowski, Wojciech, Szulinska, Monika, Thomas, Huw B., Pramanik, Sanjeev, Chopade, Sandesh, Prestes, Priscilla R., Wise, Ingrid, Evangelou, Evangelos, Salehi, Mahan, Shakanti, Yusif, Ekholm, Mikael, Denniff, Matthew, Nazgiewicz, Alicja, Eichinger, Felix, Godfrey, Bradley, Antczak, Andrzej, Glyda, Maciej, Król, Robert, Eyre, Stephen, Brown, Jason, Berzuini, Carlo, Bowes, John, Caulfield, Mark, Zukowska-Szczechowska, Ewa, Zywiec, Joanna, Bogdanski, Pawel, Kretzler, Matthias, Woolf, Adrian S., Talavera, David, Keavney, Bernard, Maffia, Pasquale, Guzik, Tomasz J., O’Keefe, Raymond T., Trynka, Gosia, Samani, Nilesh J., Hingorani, Aroon, Sampson, Matthew G., Morris, Andrew P., Charchar, Fadi J., Tomaszewski, Maciej

Source: Nature Genetics; 20210101, Issue: Preprints p1-8, 8p