Search Results - "Choi, Murim"

A logical network-based drug-screening platform for Alzheimer’s disease representing pathological features of human brain organoids by Park, Jong-Chan, Jang, So-Yeong, Lee, Dongjoon, Lee, Jeongha, Kang, Uiryong, Chang, Hongjun, Kim, Haeng Jun, Han, Sun-Ho, Seo, Jinsoo, Choi, Murim, Lee, Dong Young, Byun, Min Soo, Yi, Dahyun, Cho, Kwang-Hyun, Mook-Jung, Inhee

“…Developing effective drugs for Alzheimer’s disease (AD), the most common cause of dementia, has been difficult because of complicated pathogenesis. Here, we…”
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Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation by Romberg, Neil, Al Moussawi, Khatoun, Nelson-Williams, Carol, Stiegler, Amy L, Loring, Erin, Choi, Murim, Overton, John, Meffre, Eric, Khokha, Mustafa K, Huttner, Anita J, West, Brian, Podoltsev, Nikolai A, Boggon, Titus J, Kazmierczak, Barbara I, Lifton, Richard P

“…Richard Lifton, Barbara Kazmierczak and colleagues report the identification of a new enterocolitic and autoinflammatory syndrome, which they find is caused by…”
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Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens by Kiryluk, Krzysztof, Li, Yifu, Scolari, Francesco, Sanna-Cherchi, Simone, Choi, Murim, Verbitsky, Miguel, Fasel, David, Lata, Sneh, Prakash, Sindhuri, Shapiro, Samantha, Fischman, Clara, Snyder, Holly J, Appel, Gerald, Izzi, Claudia, Viola, Battista Fabio, Dallera, Nadia, Del Vecchio, Lucia, Barlassina, Cristina, Salvi, Erika, Bertinetto, Francesca Eleonora, Amoroso, Antonio, Savoldi, Silvana, Rocchietti, Marcella, Amore, Alessandro, Peruzzi, Licia, Coppo, Rosanna, Salvadori, Maurizio, Ravani, Pietro, Magistroni, Riccardo, Ghiggeri, Gian Marco, Caridi, Gianluca, Bodria, Monica, Lugani, Francesca, Allegri, Landino, Delsante, Marco, Maiorana, Mariarosa, Magnano, Andrea, Frasca, Giovanni, Boer, Emanuela, Boscutti, Giuliano, Ponticelli, Claudio, Mignani, Renzo, Marcantoni, Carmelita, Di Landro, Domenico, Santoro, Domenico, Pani, Antonello, Polci, Rosaria, Feriozzi, Sandro, Chicca, Silvana, Galliani, Marco, Gigante, Maddalena, Gesualdo, Loreto, Zamboli, Pasquale, Battaglia, Giovanni Giorgio, Garozzo, Maurizio, Maixnerová, Dita, Tesar, Vladimir, Eitner, Frank, Rauen, Thomas, Floege, Jürgen, Kovacs, Tibor, Nagy, Judit, Mucha, Krzysztof, Pączek, Leszek, Zaniew, Marcin, Mizerska-Wasiak, Małgorzata, Roszkowska-Blaim, Maria, Pawlaczyk, Krzysztof, Gale, Daniel, Barratt, Jonathan, Thibaudin, Lise, Berthoux, Francois, Canaud, Guillaume, Boland, Anne, Metzger, Marie, Panzer, Ulf, Suzuki, Hitoshi, Goto, Shin, Narita, Ichiei, Caliskan, Yasar, Xie, Jingyuan, Hou, Ping, Chen, Nan, Zhang, Hong, Wyatt, Robert J, Novak, Jan, Julian, Bruce A, Feehally, John, Stengel, Benedicte, Cusi, Daniele, Lifton, Richard P, Gharavi, Ali G

“…Ali Gharavi and colleagues report a genome-wide association analysis of IgA nephropathy in over 20,000 individuals of European and East Asian ancestry. They…”
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Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism by Scholl, Ute I, Stölting, Gabriel, Nelson-Williams, Carol, Vichot, Alfred A, Choi, Murim, Loring, Erin, Prasad, Manju L, Goh, Gerald, Carling, Tobias, Juhlin, C Christofer, Quack, Ivo, Rump, Lars C, Thiel, Anne, Lande, Marc, Frazier, Britney G, Rasoulpour, Majid, Bowlin, David L, Sethna, Christine B, Trachtman, Howard, Fahlke, Christoph, Lifton, Richard P

“…Many Mendelian traits are likely unrecognized owing to absence of traditional segregation patterns in families due to causation by de novo mutations,…”
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Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism by Scholl, Ute I, Goh, Gerald, Stölting, Gabriel, de Oliveira, Regina Campos, Choi, Murim, Overton, John D, Fonseca, Annabelle L, Korah, Reju, Starker, Lee F, Kunstman, John W, Prasad, Manju L, Hartung, Erum A, Mauras, Nelly, Benson, Matthew R, Brady, Tammy, Shapiro, Jay R, Loring, Erin, Nelson-Williams, Carol, Libutti, Steven K, Mane, Shrikant, Hellman, Per, Westin, Gunnar, Åkerström, Göran, Björklund, Peyman, Carling, Tobias, Fahlke, Christoph, Hidalgo, Patricia, Lifton, Richard P

“…Richard Lifton and colleagues identify somatic and germline mutations in the CACNA1D calcium channel gene in aldosterone-producing adenomas and primary…”
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K⁺ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension by Choi, Murim, Scholl, Ute I, Yue, Peng, Björklund, Peyman, Zhao, Bixiao, Nelson-Williams, Carol, Ji, Weizhen, Cho, Yoonsang, Patel, Aniruddh, Men, Clara J, Lolis, Elias, Wisgerhof, Max V, Geller, David S, Mane, Shrikant, Hellman, Per, Westin, Gunnar, Åkerström, Göran, Wang, Wenhui, Carling, Tobias, Lifton, Richard P

“…Endocrine tumors such as aldosterone-producing adrenal adenomas (APAs), a cause of severe hypertension, feature constitutive hormone production and…”
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Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial–mesenchymal transition by Zhao, Siming, Bellone, Stefania, Lopez, Salvatore, Thakral, Durga, Schwab, Carlton, English, Diana P., Black, Jonathan, Cocco, Emiliano, Choi, Jungmin, Zammataro, Luca, Predolini, Federica, Bonazzoli, Elena, Bi, Mark, Buza, Natalia, Hui, Pei, Wong, Serena, Abu-Khalaf, Maysa, Ravaggi, Antonella, Bignotti, Eliana, Bandiera, Elisabetta, Romani, Chiara, Todeschini, Paola, Tassi, Renata, Zanotti, Laura, Odicino, Franco, Pecorelli, Sergio, Donzelli, Carla, Ardighieri, Laura, Facchetti, Fabio, Falchetti, Marcella, Silasi, Dan-Arin, Ratner, Elena, Azodi, Masoud, Schwartz, Peter E., Mane, Shrikant, Angioli, Roberto, Terranova, Corrado, Quick, Charles Matthew, Edraki, Babak, Bilgüvar, Kaya, Lee, Moses, Choi, Murim, Stiegler, Amy L., Boggon, Titus J., Schlessinger, Joseph, Lifton, Richard P., Santin, Alessandro D.

“…Carcinosarcomas (CSs) of the uterus and ovary are highly aggressive neoplasms containing both carcinomatous and sarcomatous elements. We analyzed the…”
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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing by Choi, Murim, Scholl, Ute I, Ji, Weizhen, Liu, Tiewen, Tikhonova, Irina R, Zumbo, Paul, Nayir, Ahmet, Bakkaloğlu, Aysin, Özen, Seza, Sanjad, Sami, Nelson-Williams, Carol, Farhi, Anita, Mane, Shrikant, Lifton, Richard P

“…Protein coding genes constitute only approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits…”
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Isolated polycystic liver disease genes define effectors of polycystin-1 function by Besse, Whitney, Dong, Ke, Choi, Jungmin, Punia, Sohan, Fedeles, Sorin V, Choi, Murim, Gallagher, Anna-Rachel, Huang, Emily B, Gulati, Ashima, Knight, James, Mane, Shrikant, Tahvanainen, Esa, Tahvanainen, Pia, Sanna-Cherchi, Simone, Lifton, Richard P, Watnick, Terry, Pei, York P, Torres, Vicente E, Somlo, Stefan

“…Dominantly inherited isolated polycystic liver disease (PCLD) consists of liver cysts that are radiologically and pathologically identical to those seen in…”
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ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption by Ashraf, Shazia, Gee, Heon Yung, Woerner, Stephanie, Xie, Letian X, Vega-Warner, Virginia, Lovric, Svjetlana, Fang, Humphrey, Song, Xuewen, Cattran, Daniel C, Avila-Casado, Carmen, Paterson, Andrew D, Nitschké, Patrick, Bole-Feysot, Christine, Cochat, Pierre, Esteve-Rudd, Julian, Haberberger, Birgit, Allen, Susan J, Zhou, Weibin, Airik, Rannar, Otto, Edgar A, Barua, Moumita, Al-Hamed, Mohamed H, Kari, Jameela A, Evans, Jonathan, Bierzynska, Agnieszka, Saleem, Moin A, Böckenhauer, Detlef, Kleta, Robert, El Desoky, Sherif, Hacihamdioglu, Duygu O, Gok, Faysal, Washburn, Joseph, Wiggins, Roger C, Choi, Murim, Lifton, Richard P, Levy, Shawn, Han, Zhe, Salviati, Leonardo, Prokisch, Holger, Williams, David S, Pollak, Martin, Clarke, Catherine F, Pei, York, Antignac, Corinne, Hildebrandt, Friedhelm

“…Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has furthered the understanding of the pathogenesis of this disease. Here,…”
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Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing by Kunstman, John W, Juhlin, C Christofer, Goh, Gerald, Brown, Taylor C, Stenman, Adam, Healy, James M, Rubinstein, Jill C, Choi, Murim, Kiss, Nimrod, Nelson-Williams, Carol, Mane, Shrikant, Rimm, David L, Prasad, Manju L, Höög, Anders, Zedenius, Jan, Larsson, Catharina, Korah, Reju, Lifton, Richard P, Carling, Tobias

“…Anaplastic thyroid carcinoma (ATC) is a frequently lethal malignancy that is often unresponsive to available therapeutic strategies. The tumorigenesis of ATC…”
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Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes by Lee, Jin Sook, Yoo, Taekyeong, Lee, Moses, Lee, Youngha, Jeon, Eunyoung, Kim, Soo Yeon, Lim, Byung Chan, Kim, Ki Joong, Choi, Murim, Chae, Jong‐Hee

“…Leigh syndrome (LS), the most common childhood mitochondrial disorder, has characteristic clinical and neuroradiologic features. Mutations in more than 75…”
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Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms by Chung, Hyung-lok, Wangler, Michael F., Marcogliese, Paul C., Jo, Juyeon, Ravenscroft, Thomas A., Zuo, Zhongyuan, Duraine, Lita, Sadeghzadeh, Sina, Li-Kroeger, David, Schmidt, Robert E., Pestronk, Alan, Rosenfeld, Jill A., Burrage, Lindsay, Herndon, Mitchell J., Chen, Shan, Shillington, Amelle, Vawter-Lee, Marissa, Hopkin, Robert, Rodriguez-Smith, Jackeline, Henrickson, Michael, Lee, Brendan, Moser, Ann B., Jones, Richard O., Watkins, Paul, Yoo, Taekyeong, Mar, Soe, Choi, Murim, Bucelli, Robert C., Yamamoto, Shinya, Lee, Hyun Kyoung, Prada, Carlos E., Chae, Jong-Hee, Vogel, Tiphanie P., Bellen, Hugo J.

“…ACOX1 (acyl-CoA oxidase 1) encodes the first and rate-limiting enzyme of the very-long-chain fatty acid (VLCFA) β-oxidation pathway in peroxisomes and leads to…”
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Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors by Goh, Gerald, Scholl, Ute I, Healy, James M, Choi, Murim, Prasad, Manju L, Nelson-Williams, Carol, Kunstman, John W, Korah, Reju, Suttorp, Anna-Carinna, Dietrich, Dimo, Haase, Matthias, Willenberg, Holger S, Stålberg, Peter, Hellman, Per, Åkerström, Göran, Björklund, Peyman, Carling, Tobias, Lifton, Richard P

“…Richard Lifton and colleagues identify a recurrent activating mutation in PRKACA , which encodes the catalytic subunit of protein kinase A, in…”
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Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities by Boyden, Lynn M., Choi, Murim, Choate, Keith A., Nelson-Williams, Carol J., Farhi, Anita, Toka, Hakan R., Tikhonova, Irina R., Bjornson, Robert, Mane, Shrikant M., Colussi, Giacomo, Lebel, Marcel, Gordon, Richard D., Semmekrot, Ben A., Poujol, Alain, Välimäki, Matti J., De Ferrari, Maria E., Sanjad, Sami A., Gutkin, Michael, Karet, Fiona E., Tucci, Joseph R., Stockigt, Jim R., Keppler-Noreuil, Kim M., Porter, Craig C., Anand, Sudhir K., Whiteford, Margo L., Davis, Ira D., Dewar, Stephanie B., Bettinelli, Alberto, Fadrowski, Jeffrey J., Belsha, Craig W., Hunley, Tracy E., Nelson, Raoul D., Trachtman, Howard, Cole, Trevor R. P., Pinsk, Maury, Bockenhauer, Detlef, Shenoy, Mohan, Vaidyanathan, Priya, Foreman, John W., Rasoulpour, Majid, Thameem, Farook, Al-Shahrouri, Hania Z., Radhakrishnan, Jai, Gharavi, Ali G., Goilav, Beatrice, Lifton, Richard P.

“…Exome sequencing identifies mutations in kelch-like 3 and cullin 3 as causes of a syndrome featuring high blood pressure and electrolyte abnormalities…”
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Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10 by Scholl, Ute I, Choi, Murim, Liu, Tiewen, Ramaekers, Vincent T, Häusler, Martin G, Grimmer, Joanne, Tobe, Sheldon W, Farhi, Anita, Nelson-Williams, Carol, Lifton, Richard P

“…We describe members of 4 kindreds with a previously unrecognized syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and…”
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Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning by Fakhro, Khalid A., Choi, Murim, Ware, Stephanie M., Belmont, John W., Towbin, Jeffrey A., Lifton, Richard P., Khokha, Mustafa K., Brueckner, Martina

“…Dominant human genetic diseases that impair reproductive fitness and have high locus heterogeneity constitute a problem for gene discovery because the usual…”
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Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma by Zhao, Siming, Choi, Murim, Overton, John D., Bellone, Stefania, Roque, Dana M., Cocco, Emiliano, Guzzo, Federica, English, Diana P., Varughese, Joyce, Gasparrini, Sara, Bortolomai, Ileana, Buza, Natalia, Hui, Pei, Abu-Khalaf, Maysa, Ravaggi, Antonella, Bignotti, Eliana, Bandiera, Elisabetta, Romani, Chiara, Todeschini, Paola, Tassi, Renata, Zanotti, Laura, Carrara, Luisa, Pecorelli, Sergio, Silasi, Dan-Arin, Ratner, Elena, Azodi, Masoud, Schwartz, Peter E., Rutherford, Thomas J., Stiegler, Amy L., Mane, Shrikant, Boggon, Titus J., Schlessinger, Joseph, Lifton, Richard P., Santin, Alessandro D.

“…Uterine serous carcinoma (USC) is a biologically aggressive subtype of endometrial cancer. We analyzed the mutational landscape of USC by whole-exome…”
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Defining the phenotypic spectrum of SLC6A1 mutations by Johannesen, Katrine M., Gardella, Elena, Linnankivi, Tarja, Courage, Carolina, Saint Martin, Anne, Lehesjoki, Anna‐Elina, Mignot, Cyril, Afenjar, Alexandra, Lesca, Gaetan, Abi‐Warde, Marie‐Thérèse, Chelly, Jamel, Piton, Amélie, Merritt, J. Lawrence, Rodan, Lance H., Tan, Wen‐Hann, Bird, Lynne M., Nespeca, Mark, Gleeson, Joseph G., Yoo, Yongjin, Choi, Murim, Chae, Jong‐Hee, Czapansky‐Beilman, Desiree, Reichert, Sara Chadwick, Pendziwiat, Manuela, Verhoeven, Judith S., Schelhaas, Helenius J., Devinsky, Orrin, Christensen, Jakob, Specchio, Nicola, Trivisano, Marina, Weber, Yvonne G., Nava, Caroline, Keren, Boris, Doummar, Diane, Schaefer, Elise, Hopkins, Sarah, Dubbs, Holly, Shaw, Jessica E., Pisani, Laura, Myers, Candace T., Tang, Sha, Tang, Shan, Pal, Deb K., Millichap, John J., Carvill, Gemma L., Helbig, Kathrine L., Mecarelli, Oriano, Striano, Pasquale, Helbig, Ingo, Rubboli, Guido, Mefford, Heather C., Møller, Rikke S.

“…Summary Objective Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set…”
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Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4 by Lee, Sangmoon, MD, Moon, Jin Soo, MD, PhD, Lee, Cho-Rong, MS, Kim, Hye-Eun, PhD, Baek, Sun-Mi, BS, Hwang, Solha, MS, Kang, Gyeong Hoon, MD, PhD, Seo, Jeong Kee, MD, PhD, Shin, Choong Ho, MD, PhD, Kang, Hyoung Jin, MD, PhD, Ko, Jae Sung, MD, PhD, Park, Sung Gyoo, PhD, Choi, Murim, PhD

“…Notably, there was a recent case report on abatacept treatment in an adult with idiopathic autoimmune enteropathy.7 To investigate the molecular effect of the…”
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