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Tubular cell and keratinocyte single-cell transcriptomics applied to lupus nephritis reveal type I IFN and fibrosis relevant pathways
Der, Evan, Suryawanshi, Hemant, Morozov, Pavel, Kustagi, Manjunath, Goilav, Beatrice, Ranabothu, Saritha, Izmirly, Peter, Clancy, Robert, Belmont, H. Michael, Koenigsberg, Mordecai, Mokrzycki, Michele, Rominieki, Helen, Graham, Jay A., Rocca, Juan P., Bornkamp, Nicole, Jordan, Nicole, Schulte, Emma, Wu, Ming, Pullman, James, Slowikowski, Kamil, Raychaudhuri, Soumya, Guthridge, Joel, James, Judith, Buyon, Jill, Tuschl, Thomas, Putterman, Chaim
Published in Nature immunology (01.07.2019)
Published in Nature immunology (01.07.2019)
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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
Estrada, Karol, Styrkarsdottir, Unnur, Evangelou, Evangelos, Hsu, Yi-Hsiang, Ntzani, Evangelia E, Albagha, Omar M E, Koller, Daniel L, Minster, Ryan L, Moayyeri, Alireza, Vandenput, Liesbeth, Willner, Dana, Xiao, Su-Mei, Zheng, Hou-Feng, Alonso, Nerea, Kammerer, Candace M, Kaptoge, Stephen K, Leo, Paul J, Wilson, James F, Alen, Markku, Aspelund, Thor, Center, Jacqueline R, Dailiana, Zoe, Duggan, David J, Garcia, Melissa, Husted, Lise Bjerre, Jameson, Karen A, Kim, Ghi Su, Kooperberg, Charles, Kruk, Marcin, Laaksonen, Marika, Leung, Ping C, Lewis, Joshua R, Nogues, Xavier, Prezelj, Janez, Scollen, Serena, Svensson, Olle, Trompet, Stella, Woo, Jean, Zhu, Kun, Cheng, Sulin, Dedoussis, George, Frost, Morten, Goltzman, David, Kähönen, Mika, Karlsson, Magnus, Langdahl, Bente Lomholt, Lips, Paul, Lorenc, Roman S, Mellström, Dan, Olmos, José M, Pettersson-Kymmer, Ulrika, Riancho, José A, Ridker, Paul M, Rousseau, François, lagboom, P Eline S, Urreizti, Roser, Zarrabeitia, María T, Castano-Betancourt, Martha, Kwan, Tony, Li, Rui, Luben, Robert, Medina-Gómez, Carolina, Th Palsson, Stefan, Rotter, Jerome I, Sigurdsson, Gunnar, van Meurs, Joyce B J, Williams, Frances M K, Zhou, Yanhua, Pastinen, Tomi, Cauley, Jane A, Chasman, Daniel I, Clark, Graeme R, Cummings, Steven R, Eastell, Richard, Eisman, John A, Hofman, Albert, Jukema, J Wouter, Khaw, Kay-Tee, Lehtimäki, Terho, Liu, Yongmei, Oostra, Ben A, Pols, Huibert A P, Reid, Ian R, Robbins, John, Sambrook, Philip N, Sham, Pak Chung, Shuldiner, Alan R, van Duijn, Cornelia M, Wareham, Nick J, Econs, Michael J, Harris, Tamara B, Kung, Annie Wai Chee, Streeten, Elizabeth A, Thorsteinsdottir, Unnur, Karasik, David, Richards, J Brent, Brown, Matthew A, Ralston, Stuart H, Ioannidis, John P A, Kiel, Douglas P
Published in Nature genetics (01.05.2012)
Published in Nature genetics (01.05.2012)
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Large meta-analysis of genome-wide association studies identifies five loci for lean body mass
Hsu, Yi-Hsiang, Stolk, Lisette, Livshits, Gregory, Luan, Jian’an, Malkin, Ida, Ried, Janina S., Smith, Albert V., Vandenput, Liesbeth, Hua Zhao, Jing, Åkesson, Kristina, Barroso, Inês, Bertram, Lars, Biffar, Rainer, Boehnke, Michael, Buchman, Aron S., Cauley, Jane A., Cederberg, Henna, Chen, Zhao, Cho, Nam H., De Jager, Philip L., Enneman, Anke W., Estrada, Karol, Fu, Mao, Gieger, Christian, Girke, Thomas, Glazer, Nicole L., Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L., Hayward, Caroline, Hoffman, Eric P., Homuth, Georg, Hubbard, Alan, Huffman, Kim M., Husted, Lise B., Illig, Thomas, Ingelsson, Erik, Jula, Antti, Karlsson, Magnus, Kilpeläinen, Tuomas O., Klopp, Norman, Koistinen, Heikki A., Kritchevsky, Stephen, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L., Lee, Jong-Young, Lewis, Joshua R., Lind, Lars, Liu, Yongmei, Liu, Tian, Liu, Youfang, Luben, Robert N., Melhus, Håkan, Mellström, Dan, Michaëlsson, Karl, Mitchell, Braxton D., Morris, Andrew P., Mosekilde, Leif, Newman, Anne, O’Connell, Jeffrey R., Oostra, Ben A., Palotie, Aarno, Parker, Stephen C. J., Perola, Markus, Polasek, Ozren, Räikkönen, Katri, Ralston, Stuart H., Ripatti, Samuli, Rotter, Jerome I., Schipf, Sabine, Shen, Jian, Soo Shin, Chan, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Styrkarsdottir, Unnur, Tan, Sian-Tsung, Tarnopolsky, Mark A., Thorsteinsdottir, Unnur, Tranah, Gregory J., Tuomilehto, Jaakko, van Schoor, Natasja M., Weedon, Michael N., Welch, Ryan, Widen, Elisabeth, Wilson, James F., Wright, Nicole C., Xie, Weijia, Yu, Lei, Döring, Angela, van Duijn, Cornelia M., Econs, Michael J., Gudnason, Vilmundur, Psaty, Bruce M., Spector, Timothy D., Ossowski, Vicky, Harris, Tamara B., Ohlsson, Claes
Published in Nature communications (19.07.2017)
Published in Nature communications (19.07.2017)
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A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants
Lenassi, Eva, Vincent, Ajoy, Li, Zheng, Saihan, Zubin, Coffey, Alison J, Steele-Stallard, Heather B, Moore, Anthony T, Steel, Karen P, Luxon, Linda M, Héon, Elise, Bitner-Glindzicz, Maria, Webster, Andrew R
Published in European journal of human genetics : EJHG (01.10.2015)
Published in European journal of human genetics : EJHG (01.10.2015)
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A Shared Genetic Basis for Self-Limited Delayed Puberty and Idiopathic Hypogonadotropic Hypogonadism
Zhu, Jia, Choa, Ruth E.-Y., Guo, Michael H., Plummer, Lacey, Buck, Cassandra, Palmert, Mark R., Hirschhorn, Joel N., Seminara, Stephanie B., Chan, Yee-Ming
Published in The journal of clinical endocrinology and metabolism (01.04.2015)
Published in The journal of clinical endocrinology and metabolism (01.04.2015)
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Activated CTHRC1 promotes glycolysis in endothelial cells: Implications for metabolism and angiogenesis
Toomey, Barbara H., Mitrovic, Sarah A., Lindner-Liaw, Maia, Leon Vazquez, Ruth G., Kacer, Doreen, Ryzhov, Sergey, Prudovsky, Igor, Lindner, Volkhard
Published in Vascular pharmacology (01.12.2023)
Published in Vascular pharmacology (01.12.2023)
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Characterization of Visual Field Loss Over 4 Years in the Rate of Progression in USH2A-Related Retinal Degeneration (RUSH2A) Study
Duncan, Jacque L., Maguire, Maureen G., McDaniel, Lee S., Doucet, Nicole R., Audo, Isabelle, Ayala, Allison R., Cheetham, Janet K., Cheng, Peiyao, Durham, Todd A., Huckfeldt, Rachel M., Hufnagel, Robert B., Jayasundera, K. Thiran, Khan, Naheed, Malbin, Brett, Maldonado, Ramiro S., Michaelides, Michel, Pennesi, Mark E., Weng, Christina Y., Zmejkoski, Alex, Aravind, Shobana, Ishikawa, Hiroshi, Birch, David G.
Published in American journal of ophthalmology (01.08.2025)
Published in American journal of ophthalmology (01.08.2025)
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A Long-Term Retrospective Natural History Study of EFEMP1 -Associated Autosomal Dominant Drusen
de Guimarães, Thales A. C., Kalitzeos, Angelos, Mahroo, Omar A., van der Spuy, Jacqueline, Webster, Andrew R., Michaelides, Michel
Published in Investigative ophthalmology & visual science (20.06.2024)
Published in Investigative ophthalmology & visual science (20.06.2024)
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Identification of Novel USH2A Mutations in a Consanguineous Chinese Family With Usher Syndrome
Wang, Haolin, Wei, Bo, Guo, Jiaxin, Wu, Xiawei, Zou, Tongdan, Wang, Ting, Zhang, Tiantian, Gong, Bo, Hao, Jilong, Zhang, Houbin, Wang, Le
Published in Human mutation (01.01.2025)
Published in Human mutation (01.01.2025)
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Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification
Rafaelsen, Silje Hjorth, Ræder, Helge, Fagerheim, Anne Kristine, Knappskog, Per, Carpenter, Thomas O, Johansson, Stefan, Bjerknes, Robert
Published in Journal of bone and mineral research (01.06.2013)
Published in Journal of bone and mineral research (01.06.2013)
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A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia
Jorgenson, Eric, Makki, Nadja, Shen, Ling, Chen, David C., Tian, Chao, Eckalbar, Walter L., Hinds, David, Ahituv, Nadav, Avins, Andrew
Published in Nature communications (21.12.2015)
Published in Nature communications (21.12.2015)
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Matrix Gla-protein: the calcification inhibitor in need of vitamin K
Schurgers, Leon J, Cranenburg, Ellen C M, Vermeer, Cees
Published in Thrombosis and haemostasis (01.10.2008)
Published in Thrombosis and haemostasis (01.10.2008)
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Esm-1 mediates transcriptional polarization associated with diabetic kidney disease
Gaudet, Alexandre, Zheng, Xiaoyi, Kambham, Neeraja, Bhalla, Vivek
Published in American journal of physiology. Renal physiology (01.06.2024)
Published in American journal of physiology. Renal physiology (01.06.2024)
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Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes
Costa-Barbosa, Flavia Amanda, Balasubramanian, Ravikumar, Keefe, Kimberly W., Shaw, Natalie D., Al-Tassan, Nada, Plummer, Lacey, Dwyer, Andrew A., Buck, Cassandra L., Choi, Jin-Ho, Seminara, Stephanie B., Quinton, Richard, Monies, Dorota, Meyer, Brian, Hall, Janet E., Pitteloud, Nelly, Crowley, William F.
Published in The journal of clinical endocrinology and metabolism (01.05.2013)
Published in The journal of clinical endocrinology and metabolism (01.05.2013)
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Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
Sykiotis, Gerasimos P., Plummer, Lacey, Hughes, Virginia A., Au, Margaret, Durrani, Sadia, Nayak-Young, Sadhana, Dwyer, Andrew A., Quinton, Richard, Hall, Janet E., Gusella, James F., Seminara, Stephanie B., Crowley, William F., Pitteloud, Nelly, Donahoe, Patricia K.
Published in Proceedings of the National Academy of Sciences - PNAS (24.08.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (24.08.2010)
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Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families
Brownstein, Zippora, Friedman, Lilach M, Shahin, Hashem, Oron-Karni, Varda, Kol, Nitzan, Rayyan, Amal Abu, Parzefall, Thomas, Lev, Dorit, Shalev, Stavit, Frydman, Moshe, Davidov, Bella, Shohat, Mordechai, Rahile, Michele, Lieberman, Sari, Levy-Lahad, Ephrat, Lee, Ming K, Shomron, Noam, King, Mary-Claire, Walsh, Tom, Kanaan, Moien, Avraham, Karen B
Published in Genome biology (14.09.2011)
Published in Genome biology (14.09.2011)
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Asthmatic Eosinophils Alter the Gene Expression of Extracellular Matrix Proteins in Airway Smooth Muscle Cells and Pulmonary Fibroblasts
Janulaityte, Ieva, Januskevicius, Andrius, Rimkunas, Airidas, Palacionyte, Jolita, Vitkauskiene, Astra, Malakauskas, Kestutis
Published in International journal of molecular sciences (07.04.2022)
Published in International journal of molecular sciences (07.04.2022)
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Characterisation and potential diagnostic value of circulating matrix Gla protein (MGP) species
Cranenburg, Ellen C M, Koos, Ralf, Schurgers, Leon J, Magdeleyns, Elke J, Schoonbrood, Thea H M, Landewé, Robert B, Brandenburg, Vincent M, Bekers, Otto, Vermeer, Cees
Published in Thrombosis and haemostasis (01.10.2010)
Published in Thrombosis and haemostasis (01.10.2010)
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Gene expression in human NAFLD
Greco, Dario, Kotronen, Anna, Westerbacka, Jukka, Puig, Oscar, Arkkila, Perttu, Kiviluoto, Tuula, Laitinen, Saara, Kolak, Maria, Fisher, Rachel M., Hamsten, Anders, Auvinen, Petri, Yki-Järvinen, Hannele
Published in American journal of physiology: Gastrointestinal and liver physiology (01.05.2008)
Published in American journal of physiology: Gastrointestinal and liver physiology (01.05.2008)
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