Dimorphic effects of transforming growth factor-β signaling during aortic aneurysm progression in mice suggest a combinatorial therapy for Marfan syndrome
Cook, Jason R, Clayton, Nicholas P, Carta, Luca, Galatioto, Josephine, Chiu, Emily, Smaldone, Silvia, Nelson, Carol A, Cheng, Seng H, Wentworth, Bruce M, Ramirez, Francesco
Published in Arteriosclerosis, thrombosis, and vascular biology (01.04.2015)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.04.2015)
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Journal Article
Six Weeks of Daily Abaloparatide Treatment Increased Vertebral and Femoral Bone Mineral Density, Microarchitecture and Strength in Ovariectomized Osteopenic Rats
Bahar, Hila, Gallacher, Kyla, Downall, Julie, Nelson, Carol A., Shomali, Maysoun, Hattersley, Gary
Published in Calcified tissue international (01.11.2016)
Published in Calcified tissue international (01.11.2016)
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Journal Article
Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea
Gao, Emily, Cheema, Huma, Waheed, Nadia, Mushtaq, Iqra, Erden, Nihan, Nelson‐Williams, Carol, Jain, Dhanpat, Soroka, Carol J., Boyer, James L., Khalil, Youssef, Clayton, Peter T., Mistry, Pramod K., Lifton, Richard P., Vilarinho, Sílvia
Published in Hepatology (Baltimore, Md.) (01.05.2020)
Published in Hepatology (Baltimore, Md.) (01.05.2020)
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Journal Article
Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination
Omer, Salma, Jin, Sheng Chih, Koumangoye, Rainelli, Robert, Stephanie M., Duran, Daniel, Nelson‐Williams, Carol, Huttner, Anita, DiLuna, Michael, Kahle, Kristopher T., Delpire, Eric
Published in Clinical genetics (01.08.2021)
Published in Clinical genetics (01.08.2021)
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Journal Article
A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita
Khattab, Ahmed, Nelson‐Williams, Carol, Cabreza, Vivienne, Macdonald, Anne, Loring, Erin, Saland, Jeffrey, New, Maria I.
Published in Annals of the New York Academy of Sciences (01.12.2018)
Published in Annals of the New York Academy of Sciences (01.12.2018)
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Journal Article
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation
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
Published in Nature genetics (01.10.2014)
Published in Nature genetics (01.10.2014)
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Journal Article
K⁺ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension
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
Published in Science (American Association for the Advancement of Science) (11.02.2011)
Published in Science (American Association for the Advancement of Science) (11.02.2011)
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Journal Article
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism
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
Published in Nature genetics (01.09.2013)
Published in Nature genetics (01.09.2013)
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Journal Article
Antisense Oligonucleotide-mediated Suppression of Muscle Glycogen Synthase 1 Synthesis as an Approach for Substrate Reduction Therapy of Pompe Disease
Clayton, Nicholas P, Nelson, Carol A, Weeden, Timothy, Taylor, Kristin M, Moreland, Rodney J, Scheule, Ronald K, Phillips, Lucy, Leger, Andrew J, Cheng, Seng H, Wentworth, Bruce M
Published in Molecular therapy. Nucleic acids (01.10.2014)
Published in Molecular therapy. Nucleic acids (01.10.2014)
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Journal Article
Inhibiting TGF-β Activity Improves Respiratory Function in mdx Mice
Nelson, Carol A, Hunter, R. Bridge, Quigley, Lindsay A, Girgenrath, Stefan, Weber, William D, McCullough, Jennifer A, Dinardo, Carol J, Keefe, Kelly A, Ceci, Lorena, Clayton, Nicholas P, McVie-Wylie, Alison, Cheng, Seng H, Leonard, John P, Wentworth, Bruce M
Published in The American journal of pathology (01.06.2011)
Published in The American journal of pathology (01.06.2011)
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Journal Article
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors
Goh, Gerald, Scholl, Ute I, Healy, James M, Choi, Murim, Prasad, Manju L, Nelson-Williams, Carol, Kunstman, John W, Kuntsman, John W, Korah, Reju, Suttorp, Anna-Carinna, Dietrich, Dimo, Haase, Matthias, Willenberg, Holger S, Stålberg, Peter, Hellman, Per, Akerström, Göran, Björklund, Peyman, Carling, Tobias, Lifton, Richard P
Published in Nature genetics (01.06.2014)
Published in Nature genetics (01.06.2014)
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Journal Article
Recessive Mutations in KIF12 Cause High Gamma‐Glutamyltransferase Cholestasis
Ünlüsoy Aksu, Aysel, Das, Subhash K., Nelson‐Williams, Carol, Jain, Dhanpat, Özbay Hoşnut, Ferda, Evirgen Şahin, Gülseren, Lifton, Richard P., Vilarinho, Silvia
Published in Hepatology communications (01.04.2019)
Published in Hepatology communications (01.04.2019)
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Journal Article
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis
Timberlake, Andrew T., Furey, Charuta G., Choi, Jungmin, Nelson-Williams, Carol, Loring, Erin, Galm, Amy, Kahle, Kristopher T., Steinbacher, Derek M., Larysz, Dawid, Persing, John A., Lifton, Richard P.
Published in Proceedings of the National Academy of Sciences - PNAS (29.08.2017)
Published in Proceedings of the National Academy of Sciences - PNAS (29.08.2017)
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Journal Article
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10
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
Published in Proceedings of the National Academy of Sciences - PNAS (07.04.2009)
Published in Proceedings of the National Academy of Sciences - PNAS (07.04.2009)
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Journal Article
Web Resource
Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5
Scholl, Ute I, Nelson-Williams, Carol, Yue, Peng, Grekin, Roger, Wyatt, Robert J, Dillon, Michael J, Couch, Robert, Hammer, Lisa K, Harley, Frances L, Farhi, Anita, Wang, Wen-Hui, Lifton, Richard P
Published in Proceedings of the National Academy of Sciences - PNAS (14.02.2012)
Published in Proceedings of the National Academy of Sciences - PNAS (14.02.2012)
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Journal Article
Identification of Somatic Mutations in Parathyroid Tumors Using Whole-Exome Sequencing
Cromer, M. Kyle, Starker, Lee F, Choi, Murim, Udelsman, Robert, Nelson-Williams, Carol, Lifton, Richard P, Carling, Tobias
Published in The journal of clinical endocrinology and metabolism (01.09.2012)
Published in The journal of clinical endocrinology and metabolism (01.09.2012)
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Journal Article
SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus
Jin, Sheng Chih, Furey, Charuta G., Zeng, Xue, Allocco, August, Nelson‐Williams, Carol, Dong, Weilai, Karimy, Jason K., Wang, Kevin, Ma, Shaojie, Delpire, Eric, Kahle, Kristopher T.
Published in Molecular genetics & genomic medicine (01.09.2019)
Published in Molecular genetics & genomic medicine (01.09.2019)
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Journal Article
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles
Timberlake, Andrew T, Choi, Jungmin, Zaidi, Samir, Lu, Qiongshi, Nelson-Williams, Carol, Brooks, Eric D, Bilguvar, Kaya, Tikhonova, Irina, Mane, Shrikant, Yang, Jenny F, Sawh-Martinez, Rajendra, Persing, Sarah, Zellner, Elizabeth G, Loring, Erin, Chuang, Carolyn, Galm, Amy, Hashim, Peter W, Steinbacher, Derek M, DiLuna, Michael L, Duncan, Charles C, Pelphrey, Kevin A, Zhao, Hongyu, Persing, John A, Lifton, Richard P
Published in eLife (08.09.2016)
Published in eLife (08.09.2016)
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Journal Article
Systemic Delivery of a Peptide-Linked Morpholino Oligonucleotide Neutralizes Mutant RNA Toxicity in a Mouse Model of Myotonic Dystrophy
Leger, Andrew J., Mosquea, Leocadia M., Clayton, Nicholas P., Wu, I-Huan, Weeden, Timothy, Nelson, Carol A., Phillips, Lucy, Roberts, Errin, Piepenhagen, Peter A., Cheng, Seng H., Wentworth, Bruce M.
Published in Nucleic acid therapeutics (01.04.2013)
Published in Nucleic acid therapeutics (01.04.2013)
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Journal Article
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism
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
Published in eLife (24.04.2015)
Published in eLife (24.04.2015)
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