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1,460 results on '"Lifton, Richard P."'

201. Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome

Author

Mann, Nina, primary, Mzoughi, Slim, additional, Schneider, Ronen, additional, Kühl, Susanne J., additional, Schanze, Denny, additional, Klämbt, Verena, additional, Lovric, Svjetlana, additional, Mao, Youying, additional, Shi, Shasha, additional, Tan, Weizhen, additional, Kühl, Michael, additional, Onuchic-Whitford, Ana C., additional, Treimer, Ernestine, additional, Kitzler, Thomas M., additional, Kause, Franziska, additional, Schumann, Sven, additional, Nakayama, Makiko, additional, Buerger, Florian, additional, Shril, Shirlee, additional, van der Ven, Amelie T., additional, Majmundar, Amar J., additional, Holton, Kristina Marie, additional, Kolb, Amy, additional, Braun, Daniela A., additional, Rao, Jia, additional, Jobst-Schwan, Tilman, additional, Mildenberger, Eva, additional, Lennert, Thomas, additional, Kuechler, Alma, additional, Wieczorek, Dagmar, additional, Gross, Oliver, additional, Ermisch-Omran, Beate, additional, Werberger, Anja, additional, Skalej, Martin, additional, Janecke, Andreas R., additional, Soliman, Neveen A., additional, Mane, Shrikant M., additional, Lifton, Richard P., additional, Kadlec, Jan, additional, Guccione, Ernesto, additional, Schmeisser, Michael J., additional, Zenker, Martin, additional, and Hildebrandt, Friedhelm, additional

Published
2021
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202. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

Author

Calpena, Eduardo, primary, Wurmser, Maud, additional, McGowan, Simon J, additional, Atique, Rodrigo, additional, Bertola, Débora R, additional, Cunningham, Michael L, additional, Gustafson, Jonas A, additional, Johnson, David, additional, Morton, Jenny E V, additional, Passos-Bueno, Maria Rita, additional, Timberlake, Andrew T, additional, Lifton, Richard P, additional, Wall, Steven A, additional, Twigg, Stephen R F, additional, Maire, Pascal, additional, and Wilkie, Andrew O M, additional

Published
2021
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203. Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice

Author

Majmundar, Amar J., primary, Buerger, Florian, additional, Forbes, Thomas A., additional, Klämbt, Verena, additional, Schneider, Ronen, additional, Deutsch, Konstantin, additional, Kitzler, Thomas M., additional, Howden, Sara E., additional, Scurr, Michelle, additional, Tan, Ker Sin, additional, Krzeminski, Mickaël, additional, Widmeier, Eugen, additional, Braun, Daniela A., additional, Lai, Ethan, additional, Ullah, Ihsan, additional, Amar, Ali, additional, Kolb, Amy, additional, Eddy, Kaitlyn, additional, Chen, Chin Heng, additional, Salmanullah, Daanya, additional, Dai, Rufeng, additional, Nakayama, Makiko, additional, Ottlewski, Isabel, additional, Kolvenbach, Caroline M., additional, Onuchic-Whitford, Ana C., additional, Mao, Youying, additional, Mann, Nina, additional, Nabhan, Marwa M., additional, Rosen, Seymour, additional, Forman-Kay, Julie D., additional, Soliman, Neveen A., additional, Heilos, Andreas, additional, Kain, Renate, additional, Aufricht, Christoph, additional, Mane, Shrikant, additional, Lifton, Richard P., additional, Shril, Shirlee, additional, Little, Melissa H., additional, and Hildebrandt, Friedhelm, additional

Published
2021
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204. A translocation causing increased [alpha]-Klotho level results in hypophosphatemic rickets and hyperparathyroidism

Author

Brownstein, Catherine A., Adler, Felix, Nelson-Williams, Carol, Iijima, Junko, Li, Peining, Imura, Akihiro, Nabeshima, Yo-ichi, Reyes-Mugica, Miguel, Carpenter, Thomas O., and Lifton, Richard P.

Subjects
Translocation (Genetics) -- Research, Hypophosphatemia -- Genetic aspects, Hyperparathyroidism -- Genetic aspects, Endocrinology -- Research, Science and technology
Abstract

Phosphate homeostasis is central to diverse physiologic processes including energy homeostasis, formation of lipid bilayers, and bone formation. Reduced phosphate levels due to excessive renal loss cause hypophosphatemic rickets, a disease characterized by prominent bone defects; conversely, hyperphosphatemia, a major complication of renal failure, is accompanied by parathyroid hyperplasia, hyperparathyroidism, and osteodystrophy. Here, we define a syndrome featuring both hypophosphatemic rickets and hyperparathyroidism due to parathyroid hyperplasia as well as other skeletal abnormalities. We show that this disease is due to a de novo translocation with a breakpoint adjacent to [alpha]-Klotho, which encodes a [beta]-glucuronidase, and is implicated in aging and regulation of FGF signaling. Plasma [alpha]-Klotho levels and [beta]glucuronidase activity are markedly increased in the affected patient; unexpectedly, the circulating FGF23 level is also markedly elevated. These findings suggest that the elevated [alpha]-Klotho level mimics aspects of the normal response to hyperphosphatemia and implicate [alpha]-Klotho in the selective regulation of phosphate levels and in the regulation of parathyroid mass and function; they also have implications for the pathogenesis and treatment of renal osteodystrophy in patients with kidney failure. bone | endocrinology | genetics | phosphorus

Published
2008

205. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

Author

Bakkaloglu, Betul, O'Roak, Brian J., Louvi, Angeliki, Gupta, Abha R., Abelson, Jesse F., Morgan, Thomas M., Chawarska, Katarzyna, Klin, Ami, Ercan-Sencicek, A. Gulhan, Stillman, Althea A., Tanriover, Gamze, Abrahams, Brett S., Duvall, Jackie A., Robbins, Elissa M., Geshwind, Daniel H., Biederer, Thomas, Gunel, Murat, Lifton, Richard P., and State, Matthew W.

Subjects
Human cytogenetics -- Research, Autistic children -- Genetic aspects, Autistic children -- Research, Amino acid sequence -- Research, Biological sciences
Abstract

A de novo chromosome 7q inversion disrupting Autism susceptibility candidate 2 (AUTS2) and Contactin Associated Protein-Like 2 (CNTNAP2) in a child with congitive and social delay is identified. It is suggested that rare variants contribute to the pathophysiology of autism spectrum disorders (ASD).

Published
2008

207. Additional file 3 of EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

Author

Hsieh, Alexander, Morton, Sarah U., Willcox, Jon A. L., Gorham, Joshua M., Tai, Angela C., Hongjian Qi, DePalma, Steven, McKean, David, Griffin, Emily, Manheimer, Kathryn B., Bernstein, Daniel, Kim, Richard W., Newburger, Jane W., Porter, George A., Srivastava, Deepak, Tristani-Firouzi, Martin, Brueckner, Martina, Lifton, Richard P., Goldmuntz, Elizabeth, Gelb, Bruce D., Chung, Wendy K., Seidman, Christine E., J. G. Seidman, and Yufeng Shen

Abstract

Contains Supplemental Methods.

Published
2020
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208. Additional file 2 of EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

Author

Hsieh, Alexander, Morton, Sarah U., Willcox, Jon A. L., Gorham, Joshua M., Tai, Angela C., Hongjian Qi, DePalma, Steven, McKean, David, Griffin, Emily, Manheimer, Kathryn B., Bernstein, Daniel, Kim, Richard W., Newburger, Jane W., Porter, George A., Srivastava, Deepak, Tristani-Firouzi, Martin, Brueckner, Martina, Lifton, Richard P., Goldmuntz, Elizabeth, Gelb, Bruce D., Chung, Wendy K., Seidman, Christine E., J. G. Seidman, and Yufeng Shen

Abstract

Contains Supplemental Figures S1-S14.

Published
2020
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209. Lasker Award to Heart Valve Pioneers

Author

Lifton, Richard P.

Subjects
Biological sciences
Abstract

To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.cell.2007.08.042 Byline: Richard P. Lifton (1) Abstract: This year, the Lasker Foundation recognizes Albert Starr and Alain Carpentier for their development of effective treatments for valvular heart disease. Their innovative work is a model of interdisciplinary basic and clinical research and has benefited millions of people. Author Affiliation: (1) Departments of Genetics and Internal Medicine, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven CT, 06536 USA

Published
2007

211. Predictors of Chemosensitivity in Triple Negative Breast Cancer: An Integrated Genomic Analysis

Author

Jiang, Tingting, Shi, Weiwei, Wali, Vikram B., Pongor, Lorinc S., Li, Charles, Lau, Rosanna, Gyorffy, Balázs, Lifton, Richard P., Symmans, William F., Pusztai, Lajos, and Hatzis, Christos

Subjects
Chemotherapy -- Patient outcomes, Drug resistance -- Testing, Breast cancer -- Development and progression -- Care and treatment, Biological sciences
Abstract

Background Triple negative breast cancer (TNBC) is a highly heterogeneous and aggressive disease, and although no effective targeted therapies are available to date, about one-third of patients with TNBC achieve pathologic complete response (pCR) from standard-of-care anthracycline/taxane (ACT) chemotherapy. The heterogeneity of these tumors, however, has hindered the discovery of effective biomarkers to identify such patients. Methods and Findings We performed whole exome sequencing on 29 TNBC cases from the MD Anderson Cancer Center (MDACC) selected because they had either pCR (n = 18) or extensive residual disease (n = 11) after neoadjuvant chemotherapy, with cases from The Cancer Genome Atlas (TCGA; n = 144) and METABRIC (n = 278) cohorts serving as validation cohorts. Our analysis revealed that mutations in the AR- and FOXA1-regulated networks, in which BRCA1 plays a key role, are associated with significantly higher sensitivity to ACT chemotherapy in the MDACC cohort (pCR rate of 94.1% compared to 16.6% in tumors without mutations in AR/FOXA1 pathway, adjusted p = 0.02) and significantly better survival outcome in the TCGA TNBC cohort (log-rank test, p = 0.05). Combined analysis of DNA sequencing, DNA methylation, and RNA sequencing identified tumors of a distinct BRCA-deficient (BRCA-D) TNBC subtype characterized by low levels of wild-type BRCA1/2 expression. Patients with functionally BRCA-D tumors had significantly better survival with standard-of-care chemotherapy than patients whose tumors were not BRCA-D (log-rank test, p = 0.021), and they had significantly higher mutation burden (p < 0.001) and presented clonal neoantigens that were associated with increased immune cell activity. A transcriptional signature of BRCA-D TNBC tumors was independently validated to be significantly associated with improved survival in the METABRIC dataset (log-rank test, p = 0.009). As a retrospective study, limitations include the small size and potential selection bias in the discovery cohort. Conclusions The comprehensive molecular analysis presented in this study directly links BRCA deficiency with increased clonal mutation burden and significantly enhanced chemosensitivity in TNBC and suggests that functional RNA-based BRCA deficiency needs to be further examined in TNBC., Author(s): Tingting Jiang 1, Weiwei Shi 1, Vikram B. Wali 1, Lorinc S. Pongor 2,3, Charles Li 4, Rosanna Lau 5, Balázs Gyorffy 2,3, Richard P. Lifton 1,4,6, William F. [...]

Published
2016
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212. Adenosine metabolism and murine strain-specific IL-4-induced inflammation, emphysema, and fibrosis

Author

Ma, Bing, Blackburn, Michael R., Lee, Chun Geun, Homer, Robert J., Liu, Wei, Flavell, Richard A., Boyden, Lynn, Lifton, Richard P., Sun, Chun-Xiao, Young, Hays W., and Elias, Jack A.

Subjects
Adenosine -- Research, Mice -- Research, Medical research, Medicine, Experimental, Genetic research
Abstract

To define the factors that control the tissue effects of IL-4, we compared the effects of Tg IL-4 in Balb/c and C57BL/6 mice. In the former, IL-4 caused modest eosinophilic [...]

Published
2006

213. WNK3 kinase is a positive regulator of NKCC2 and NCC, renal cation-[Cl.sup.-] cotransporters required for normal blood pressure homeostasis

Author

Rinehart, Jesse, Kahle, Kristopher T., de los Heros, Paola, Vazquez, Norma, Meade, Patricia, Wilson, Frederick H., Hebert, Steven C., Gimenez, Ignacio, Gamba, Gerardo, and Lifton, Richard P.

Subjects
Hyperkalemia -- Research, Hypertension -- Research, Ionic mobility -- Research, Protein kinases -- Research, Threonine -- Reorganization and restructuring, Company restructuring/company reorganization, Company organization, Science and technology
Abstract

WNK1 and WNK4 [WNK, with no lysine (K)] are serine--threonine kinases that function as molecular switches, eliciting coordinated effects on diverse ion transport pathways to maintain homeostasis during physiological perturbation. Gain-of-function mutations in either of these genes cause an inherited syndrome featuring hypertension and hyperkalemia due to increased renal NaCl reabsorption and decreased [K.sup.+] secretion. Here, we reveal unique biochemical and functional properties of WNK3, a related member of the WNK kinase family. Unlike WNK1 and WNK4, WNK3 is expressed throughout the nephron, predominantly at intercellular junctions. Because WNK4 is a potent inhibitor of members of the cation-cotransporter SLC12A family, we used coexpression studies in Xenopus oocytes to investigate the effect of WNK3 on NCC and NKCC2, related kidney-specific transporters that mediate apical NaCl reabsorption in the thick ascending limb and distal convoluted tubule, respectively. In contrast to WNK4's inhibitory activity, kinase-active WNK3 is a potent activator of both NKCC2 and NCC-mediated transport. Conversely, in its kinase-inactive state, WNK3 is a potent inhibitor of NKCC2 and NCC activity. WNK3 regulates the activity of these transporters by altering their expression at the plasma membrane. Wild-type WNK3 increases and kinase-inactive WNK3 decreases NKCC2 phosphorylation at Thr-184 and Thr-189, sites required for the vasopressin-mediated plasmalemmal translocation and activation of NKCC2 in vivo. The effects of WNK3 on these transporters and their coexpression in renal epithelia implicate WNK3 in NaCl, water, and blood pressure homeostasis, perhaps via signaling downstream of vasopressin. hypertension | ion transport | protein serine--threonine kinases

Published
2005

214. The B1-subunit of the [H.sup.+] ATPase is required for maximal urinary acidification

Author

Finberg, Karin E., Wagner, Carsten A., Bailey, Matthew A., Paunescu, Teodor G., Breton, Sylvie, Brown, Dennis, Giebisch, Gerhard, Geibel, John P., and Lifton, Richard P.

Subjects
Homeostasis -- Research, Adenosine triphosphatase -- Research, Science and technology
Abstract

The multisubunit vacuolar-type [H.sup.+]ATPases mediate acidification of various intracellular organelles and in some tissues mediate [H.sup.+] secretion across the plasma membrane. Mutations in the B1-subunit of the apical [H.sup.+]ATPase that secretes protons in the distal nephron cause distal renal tubular acidosis in humans, a condition characterized by metabolic acidosis with an inappropriately alkaline urine. To examine the detailed cellular and organismal physiology resulting from this mutation, we have generated mice deficient in the B1-subunit (Atp6v1b[1.sup.-/-] mice). Urine pH is more alkaline and metabolic acidosis is more severe in Atp6v1b[1.sup.-/-] mice after oral acid challenge, demonstrating a failure of normal urinary acidification. In Atp6v1b[1.sup.-/-] mice, the normal urinary acidification induced by a lumen-negative potential in response to furosemide infusion is abolished. After an acute intracellular acidification, [Na.sup.+]-independent pH recovery rates of individual Atp6v1b[1.sup.-/-] intercalated cells of the cortical collecting duct are markedly reduced and show no further decrease after treatment with the selective [H.sup.+]ATPase inhibitor concanamycin. Apical expression of the alternative B-subunit isoform, B2, is increased in Atp6v1b[1.sup.-/-] medulla and colocalizes with the [H.sup.+]ATPase E-subunit; however, the greater severity of metabolic acidosis in Atp6v1b[1.sup.-/-] mice after oral acid challenge indicates that the B2-subunit cannot fully functionally compensate for the loss of B1. Our results indicate that the B1 isoform is the major B-subunit isoform that incorporates into functional, plasma membrane [H.sup.+]ATPases in intercalated cells of the cortical collecting duct and is required for maximal urinary acidification. collecting duct | intercalated cell | pH homeostasis | renal tubular acidosis | vacuolar [H.sup.+] ATPase

Published
2005

215. TRIM71 Mutations Cause Human and Murine Congenital Hydrocephalus by Impairing Prenatal Neural Stem Cell Regulation

Author

Phan, Duy, primary, Jin, Sheng C, additional, Weise, Stefan, additional, Marini, Claudia, additional, Dong, Weilai, additional, Kundishora, Adam, additional, Torres-Fernandez, Lucia, additional, Cuevas, Elisa, additional, Hao, Le, additional, Furey, Charuta G, additional, Zeng, Xue, additional, Jux, Bettina, additional, Sousa, Andre, additional, Liu, Fuchen, additional, Kim, Suel-Kee, additional, Li, Mingfeng, additional, Yang, Yiying, additional, Takeo, Yutaka, additional, Foster, Daniel, additional, Nelson-Williams, Carol, additional, Allocco, August A, additional, Smith, Hannah, additional, Dunbar, Ashley, additional, Sullivan, William, additional, Ha, Yonghyun, additional, Selvaganesan, Kartiga, additional, Sheth, Amar, additional, DeSpenza, Tyrone, additional, Reeves, Benjamin, additional, Goto, June, additional, Marlier, Arnaud, additional, Warf, Benjamin C, additional, Moreno-De-Luca, Andres, additional, Lake, Evelyn, additional, Constable, Todd, additional, Sestan, Nenad, additional, Lin, Haifan, additional, Alper, Seth, additional, Slack, Frank, additional, Wulczyn, F. Gregory, additional, Kolanus, Waldemar, additional, Lifton, Richard P, additional, and Kahle, Kristopher T, additional

Published
2020
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217. Integrative Genomics Implicates Genetic Disruption of Prenatal Neurogenesis in Congenital Hydrocephalus

Author

Panchagnula, Shreyas, primary, Jin, Sheng C, additional, Dong, Weilai, additional, Kundishora, Adam, additional, Moreno-De-Luca, Andres, additional, Furey, Charuta G, additional, Allocco, August A, additional, Walker, Rebecca, additional, Nelson-Williams, Carol, additional, Smith, Hannah, additional, Dunbar, Ashley, additional, Conine, Sierra B, additional, Lu, Qiongshi, additional, Zen, Xue, additional, Sierant, Michael, additional, Knight, James, additional, Sullivan, William, additional, Phan, Duy, additional, DeSpenza, Tyrone, additional, Reeves, Benjamin, additional, Karimy, Jason K, additional, Marlier, Arnaud, additional, Castaldi, Christopher, additional, Tikhonova, Irina, additional, Li, Boyang, additional, Peña;, Helena, additional, Broach, James, additional, Kabachelor, Edith M, additional, Ssenyonga, Peter, additional, Hehnly, Christine, additional, Ge, Li, additional, Keren, Boris, additional, Timberlake, Andrew T, additional, Goto, June, additional, Mangano, Francesco T, additional, Johnston, James M, additional, Butler, William, additional, Warf, Benjamin C, additional, Smith, Edward R, additional, Schiff, Steven J, additional, Limbrick, David D, additional, Heuer, Gregory G, additional, Jackson, Eric M, additional, Iskandar, Bermans J, additional, Mane, Shrikant, additional, Haider, Shozeb, additional, Guclu, Bulent, additional, Bayri, Yasar, additional, Sahin, Yener, additional, Duncan, Charles C, additional, Apuzzo, Michael L.J, additional, DiLuna, Michael L, additional, Hoffman, Ellen, additional, Sestan, Nenad, additional, Ment, Laura, additional, Alper, Seth, additional, Bilguvar, Kaya, additional, Geschwind, Daniel, additional, Günel, Murat, additional, Lifton, Richard P, additional, and Kahle, Kristopher T, additional

Published
2020
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218. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

Author

Schneider, Ronen, primary, Deutsch, Konstantin, additional, Hoeprich, Gregory J., additional, Marquez, Jonathan, additional, Hermle, Tobias, additional, Braun, Daniela A., additional, Seltzsam, Steve, additional, Kitzler, Thomas M., additional, Mao, Youying, additional, Buerger, Florian, additional, Majmundar, Amar J., additional, Onuchic-Whitford, Ana C., additional, Kolvenbach, Caroline M., additional, Schierbaum, Luca, additional, Schneider, Sophia, additional, Halawi, Abdul A., additional, Nakayama, Makiko, additional, Mann, Nina, additional, Connaughton, Dervla M., additional, Klämbt, Verena, additional, Wagner, Matias, additional, Riedhammer, Korbinian M., additional, Renders, Lutz, additional, Katsura, Yoshichika, additional, Thumkeo, Dean, additional, Soliman, Neveen A., additional, Mane, Shrikant, additional, Lifton, Richard P., additional, Shril, Shirlee, additional, Khokha, Mustafa K., additional, Hoefele, Julia, additional, Goode, Bruce L., additional, and Hildebrandt, Friedhelm, additional

Published
2020
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219. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

Author

Connaughton, Dervla M., primary, Dai, Rufeng, additional, Owen, Danielle J., additional, Marquez, Jonathan, additional, Mann, Nina, additional, Graham-Paquin, Adda L., additional, Nakayama, Makiko, additional, Coyaud, Etienne, additional, Laurent, Estelle M.N., additional, St-Germain, Jonathan R., additional, Blok, Lot Snijders, additional, Vino, Arianna, additional, Klämbt, Verena, additional, Deutsch, Konstantin, additional, Wu, Chen-Han Wilfred, additional, Kolvenbach, Caroline M., additional, Kause, Franziska, additional, Ottlewski, Isabel, additional, Schneider, Ronen, additional, Kitzler, Thomas M., additional, Majmundar, Amar J., additional, Buerger, Florian, additional, Onuchic-Whitford, Ana C., additional, Youying, Mao, additional, Kolb, Amy, additional, Salmanullah, Daanya, additional, Chen, Evan, additional, van der Ven, Amelie T., additional, Rao, Jia, additional, Ityel, Hadas, additional, Seltzsam, Steve, additional, Rieke, Johanna M., additional, Chen, Jing, additional, Vivante, Asaf, additional, Hwang, Daw-Yang, additional, Kohl, Stefan, additional, Dworschak, Gabriel C., additional, Hermle, Tobias, additional, Alders, Mariëlle, additional, Bartolomaeus, Tobias, additional, Bauer, Stuart B., additional, Baum, Michelle A., additional, Brilstra, Eva H., additional, Challman, Thomas D., additional, Zyskind, Jacob, additional, Costin, Carrie E., additional, Dipple, Katrina M., additional, Duijkers, Floor A., additional, Ferguson, Marcia, additional, Fitzpatrick, David R., additional, Fick, Roger, additional, Glass, Ian A., additional, Hulick, Peter J., additional, Kline, Antonie D., additional, Krey, Ilona, additional, Kumar, Selvin, additional, Lu, Weining, additional, Marco, Elysa J., additional, Wentzensen, Ingrid M., additional, Mefford, Heather C., additional, Platzer, Konrad, additional, Povolotskaya, Inna S., additional, Savatt, Juliann M., additional, Shcherbakova, Natalia V., additional, Senguttuvan, Prabha, additional, Squire, Audrey E., additional, Stein, Deborah R., additional, Thiffault, Isabelle, additional, Voinova, Victoria Y., additional, Somers, Michael J.G., additional, Ferguson, Michael A., additional, Traum, Avram Z., additional, Daouk, Ghaleb H., additional, Daga, Ankana, additional, Rodig, Nancy M., additional, Terhal, Paulien A., additional, van Binsbergen, Ellen, additional, Eid, Loai A., additional, Tasic, Velibor, additional, Rasouly, Hila Milo, additional, Lim, Tze Y., additional, Ahram, Dina F., additional, Gharavi, Ali G., additional, Reutter, Heiko M., additional, Rehm, Heidi L., additional, MacArthur, Daniel G., additional, Lek, Monkol, additional, Laricchia, Kristen M., additional, Lifton, Richard P., additional, Xu, Hong, additional, Mane, Shrikant M., additional, Sanna-Cherchi, Simone, additional, Sharrocks, Andrew D., additional, Raught, Brian, additional, Fisher, Simon E., additional, Bouchard, Maxime, additional, Khokha, Mustafa K., additional, Shril, Shirlee, additional, and Hildebrandt, Friedhelm, additional

Published
2020
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220. Mapping a mendelian form of intracranial aneurysm to 1p34.3-p36.13

Author

Nahed, Brian V., Seker, Askin, Guclu, Bulent, Ozturk, Ali K., Finberg, Karin, Hawkins, Abigail A., DiLuna, Michael L., State, Matthew, Lifton, Richard P., and Gunel, Murat

Subjects
Intracranial aneurysms -- Genetic aspects, Intracranial aneurysms -- Diagnosis, Intracranial aneurysms -- Causes of, Biological sciences
Published
2005

221. List of Contributors

Author

Abrahamson, Dale R., primary, Al-Awqati, Qais, additional, Alpern, Robert J., additional, Altenberg, Guillermo A., additional, Bailey, Matthew A., additional, Baum, Michel, additional, Bichet, Daniel G., additional, Blantz, Roland C., additional, Breyer, Matthew D., additional, Breyer, Richard M., additional, Brinkkoetter, Paul T., additional, Bush, Kevin T., additional, Cantley, Lloyd, additional, Cao, Chunhua, additional, Capasso, Giovambattista, additional, Castrop, Hayo, additional, Chan, Laurence, additional, Cina, Davide, additional, Coffman, Thomas M., additional, Crowley, Steven D., additional, Dimke, Henrik, additional, Eisner, Gilbert M., additional, Eladari, Dominique, additional, Ellison, David H., additional, Endou, Hitoshi, additional, Felder, Robin A., additional, Féraille, Eric, additional, Frøkiær, Jørgen, additional, Gamba, Gerardo, additional, Gattineni, Jyothsna, additional, Giebisch, Gerhard, additional, Gmurczyk, Aleksandra, additional, Granger, Joey P., additional, Griffin, Sian V., additional, Guggino, William B., additional, Gurley, Susan B., additional, Hall, John E., additional, Hall, Michael E., additional, Hallows, Kenneth R., additional, Hanner, Fiona, additional, Harris, Raymond C., additional, Hasler, Udo, additional, Kevin Hix, J., additional, Huang, Chou-Long, additional, Johns, Edward J., additional, Jose, Pedro A., additional, Kaissling, Brigitte, additional, Kleyman, Thomas R., additional, Kopp, Ulla C., additional, Kriz, Wilhelm, additional, Kwon, Tae-Hwan, additional, Lang, Florian, additional, Layton, Harold E., additional, Le, Thu H., additional, Lifton, Richard P., additional, Loffing, Johannes, additional, Maezawa, Yoshiro, additional, Malnic, Gerhard, additional, Matlin, Karl S., additional, Charles Michel, C., additional, Miner, Jeffrey H., additional, Muto, Shigeaki, additional, Nielsen, Søren, additional, Nigam, Sanjay K., additional, Oh, Man S., additional, Oliver, Juan A., additional, Pallone, Thomas L., additional, Palmer, Biff F., additional, Palmer, Lawrence G., additional, Peti-Peterdi, János, additional, Pieczynski, Jay N., additional, Quaggin, Susan E., additional, Reuss, Luis, additional, Rivard, Christopher J., additional, Robertson, Gary L., additional, Rosa, Robert M., additional, Sackin, Henry, additional, Sahni, Vaibhav, additional, Sakurai, Hiroyuki, additional, Sands, Jeff M., additional, Satlin, Lisa M., additional, Schild, Laurent, additional, Schnermann, Jürgen B., additional, Scholl, Ute I., additional, Sekine, Takashi, additional, Seldin, Donald W., additional, Shankland, Stuart J., additional, Sheng, Shaohu, additional, Shirley, David G., additional, Silver, Stephen M., additional, Skott, Martin, additional, Staub, Olivier, additional, Sterns, Richard H., additional, Stockand, James D., additional, Tam, Frederick W.K., additional, Thomson, Scott C., additional, Trepiccione, Francesco, additional, Unwin, Robert J., additional, Vesely, David L., additional, Wang, Wei, additional, Wang, Wenhui, additional, Weinstein, Alan M., additional, Welling, Paul A., additional, Wildman, Scott S.P., additional, Woodward, Owen M., additional, Yoder, Bradley K., additional, Yu, Alan S.L., additional, and Zacchia, Miriam, additional

Published
2012
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223. Epigenetic abnormalities associated with a chromosome 18(q21-q22)inversion and a Gilles de la Tourette syndrome phenotype

Author

State, Matthew W., Greally, John M., Cuker, Adam, Bowers, Peter N., Henegariu, Octavian, Morgan, Thomas M., Gunel, Murat, DiLuna, Michael, King, Robert A., Nelson, Carol, Donovan, Abigail, Anderson, George M., Leckman, James F., Hawkins, Trevor, Pauls, David L., Lifton, Richard P., and Ward, David C.

Subjects
Extrapyramidal disorders -- Genetic aspects, Science and technology
Abstract

Gilles de la Tourette syndrome (GTS) is a potentially debilitating neuropsychiatric disorder defined by the presence of both vocal and motor tics. Despite evidence that this and a related phenotypic spectrum, including chronic tics (CT) and Obsessive Compulsive Disorder (OCD), are genetically mediated, no gene involved in disease etiology has been identified. Chromosomal abnormalities have long been proposed to play a causative role in isolated cases of GTS spectrum phenomena, but confirmation of this hypothesis has yet to be forthcoming. We describe an i(18q21.1-q22.2) inversion in a patient with CT and OCD. We have fine mapped the telomeric aspect of the rearrangement to within 1 Mb of a previously reported 18q22 breakpoint that cosegregated in a family with GTS and related phenotypes. A comprehensive characterization of this genomic interval led to the identification of two transcripts, neither of which was found to be structurally disrupted. Analysis of the epigenetic characteristics of the region demonstrated a significant increase in replication asynchrony in the patient compared to controls, with the inverted chromosome showing delayed replication timing across at least a 500-kb interval. These findings are consistent with long-range functional dysregulation of one or more genes in the region. Our data support a link between chromosomal aberrations and epigenetic mechanisms in GTS and suggest that the study of the functional consequences of balanced chromosomal rearrangements is warranted in patients with phenotypes of interest, irrespective of the findings regarding structurally disrupted transcripts.

Published
2003

225. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.

Author

Calpena, Eduardo, Wurmser, Maud, McGowan, Simon J., Atique, Rodrigo, Bertola, Débora R., Cunningham, Michael L., Gustafson, Jonas A., Johnson, David, Morton, Jenny E. V., Passos-Bueno, Maria Rita, Timberlake, Andrew T., Lifton, Richard P., Wall, Steven A., Twigg, Stephen R. F., Maire, Pascal, and Wilkie, Andrew O. M.

Abstract

Background Pathogenic heterozygous SIX1 variants (predominantly missense) occur in branchio-otic syndrome (BOS), but an association with craniosynostosis has not been reported. Methods We investigated probands with craniosynostosis of unknown cause using whole exome/genome (n=628) or RNA (n=386) sequencing, and performed targeted resequencing of SIX1 in 615 additional patients. Expression of SIX1 protein in embryonic cranial sutures was examined in the Six1nLacZ/+ reporter mouse. Results From 1629 unrelated cases with craniosynostosis we identified seven different SIX1 variants (three missense, including two de novo mutations, and four nonsense, one of which was also present in an affected twin). Compared with population data, enrichment of SIX1 loss-of-function variants was highly significant (p=0.00003). All individuals with craniosynostosis had sagittal suture fusion; additionally four had bilambdoid synostosis. Associated BOS features were often attenuated; some carrier relatives appeared non-penetrant. SIX1 is expressed in a layer basal to the calvaria, likely corresponding to the dura mater, and in the mid-sagittal mesenchyme. Conclusion Craniosynostosis is associated with heterozygous SIX1 variants, with possible enrichment of loss-of-function variants compared with classical BOS. We recommend screening of SIX1 in craniosynostosis, particularly when sagittal±lambdoid synostosis and/or any BOS phenotypes are present. These findings highlight the role of SIX1 in cranial suture homeostasis. [ABSTRACT FROM AUTHOR]

Published
2022
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226. Contributors

Author

Antignac, Corinne, primary, Aronson, Peter S., additional, Asch, William S., additional, Baum, Michel, additional, Beerman, Isabel, additional, Bergeron, Anne, additional, Biber, Jürg, additional, Bichet, Daniel G., additional, Bleyer, Anthony J., additional, Bowden, Donald W., additional, Boyden, Lynn M., additional, Brown, Edward M., additional, Cantley, Lloyd G., additional, Chou, Janice Y., additional, Coca, Steven G., additional, Cox, Timothy M., additional, Cramer, Scott D., additional, Cremers, Cor WJR., additional, Deen, Peter M.T., additional, Desnick, Robert J., additional, Endou, Hitoshi, additional, Esquivel, Ernie L., additional, Forster, Ian C., additional, Freedman, Barry I., additional, Geller, David S., additional, Gharavi, Ali, additional, Giebisch, Gerhard H., additional, Grubb, Robert L., additional, Guay-Woodford, Lisa M., additional, Hariri, Ali, additional, Hart, Thomas C., additional, Hartwig, Sunny, additional, Hebert, Steven C., additional, Hernando, Nati, additional, Hildebrandt, Friedhelm, additional, Hosoya, Tatsuo, additional, Hosoyamada, Makoto, additional, Ichida, Kimiyoshi, additional, Igarashi, Peter, additional, Jorquera, Rossana, additional, Kahle, Kristopher T., additional, Kalatzis, Vasiliki, additional, Karet, Fiona E., additional, Klotman, Paul E., additional, Knoers, Nine V.A.M., additional, Kreidberg, Jordan A., additional, Kwiatkowski, David Joseph, additional, Lee, Brendan, additional, Lifton, Richard P., additional, Lin, Fangming, additional, Marston Linehan, W., additional, Mansfield, Brian C., additional, Marlier, Arnaud, additional, Mistry, Pramod Kumar, additional, Moe, Orson W., additional, Mohan, Chandra, additional, Morello, Roy, additional, Murer, Heini, additional, Palacin, Manuel, additional, Patel, Vishal, additional, Patrakka, Jaakko, additional, Pollak, Martin R., additional, Polu, Krishna R., additional, Reilly, Robert F., additional, Rich, Stephen S., additional, Rossier, Bernard C., additional, Scheinman, Steven J., additional, Schild, Laurent, additional, Schilsky, Michael L., additional, Scholl, Ute I., additional, Scolari, Francesco, additional, Scott, Daryl, additional, Seldin, Donald W., additional, Somlo, Stefan, additional, Takayama, Tatsuya, additional, Tanguay, Robert M., additional, Tryggvason, Karl, additional, Wagner, Carsten A., additional, Wakeland, Edward K., additional, Walther, McClellan M., additional, Wang, Andrew, additional, Weinstein, David A., additional, White, Perrin C., additional, Wilson, Frederick H., additional, Wright, Ernest M., additional, Wyatt, Christina M., additional, and van Os, Carel H., additional

Published
2009
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231. Preface

Author

Lifton, Richard P., primary, Somlo, Stefan, additional, Giebisch, Gerhard H., additional, and Seldin, Donald W., additional

Published
2009
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232. High bone density due to a mutation in LDL-receptor-related protein 5

Author

Boyden, Lynn M., Mao, Junhao, Belsky, Joseph, Mitzner, Lyle, Farhi, Anita, Mitnick, Mary A., Wu, Dianquing, Insogna, Karl, and Lifton, Richard P.

Subjects
Bones -- Density, Osteoporosis -- Genetic aspects
Abstract

Researchers describe a family with a gene mutation that causes increased bone density. It occurs in the gene for low-density lipoprotein receptor-related protein 5, which is on chromosome 11q12-13. This gene could play a role in osteoporosis.

Published
2002

234. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

Author

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, and Lifton, Richard P.

Published
2012
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235. Molecular mechanisms of human hypertension

Author

Lifton, Richard P., Gharavi, Ali G., and Geller, David S.

Subjects
Cell research -- Analysis, Hypertension -- Causes of, Molecules -- Analysis, Pathogenic microorganisms -- Physiological aspects, Biological sciences
Abstract

The publications on hypertension, elevated arterial blood pressure, have been reviewed. The subjects of interest include the cause of the disease, its pathogenesis and the molecular mechanisms implicated in blood pressure variations in humans.

Published
2001

237. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Author

Jin, Sheng Chih, primary, Lewis, Sara A., additional, Bakhtiari, Somayeh, additional, Zeng, Xue, additional, Sierant, Michael C., additional, Shetty, Sheetal, additional, Nordlie, Sandra M., additional, Elie, Aureliane, additional, Corbett, Mark A., additional, Norton, Bethany Y., additional, van Eyk, Clare L., additional, Haider, Shozeb, additional, Guida, Brandon S., additional, Magee, Helen, additional, Liu, James, additional, Pastore, Stephen, additional, Vincent, John B., additional, Brunstrom-Hernandez, Janice, additional, Papavasileiou, Antigone, additional, Fahey, Michael C., additional, Berry, Jesia G., additional, Harper, Kelly, additional, Zhou, Chongchen, additional, Zhang, Junhui, additional, Li, Boyang, additional, Zhao, Hongyu, additional, Heim, Jennifer, additional, Webber, Dani L., additional, Frank, Mahalia S. B., additional, Xia, Lei, additional, Xu, Yiran, additional, Zhu, Dengna, additional, Zhang, Bohao, additional, Sheth, Amar H., additional, Knight, James R., additional, Castaldi, Christopher, additional, Tikhonova, Irina R., additional, López-Giráldez, Francesc, additional, Keren, Boris, additional, Whalen, Sandra, additional, Buratti, Julien, additional, Doummar, Diane, additional, Cho, Megan, additional, Retterer, Kyle, additional, Millan, Francisca, additional, Wang, Yangong, additional, Waugh, Jeff L., additional, Rodan, Lance, additional, Cohen, Julie S., additional, Fatemi, Ali, additional, Lin, Angela E., additional, Phillips, John P., additional, Feyma, Timothy, additional, MacLennan, Suzanna C., additional, Vaughan, Spencer, additional, Crompton, Kylie E., additional, Reid, Susan M., additional, Reddihough, Dinah S., additional, Shang, Qing, additional, Gao, Chao, additional, Novak, Iona, additional, Badawi, Nadia, additional, Wilson, Yana A., additional, McIntyre, Sarah J., additional, Mane, Shrikant M., additional, Wang, Xiaoyang, additional, Amor, David J., additional, Zarnescu, Daniela C., additional, Lu, Qiongshi, additional, Xing, Qinghe, additional, Zhu, Changlian, additional, Bilguvar, Kaya, additional, Padilla-Lopez, Sergio, additional, Lifton, Richard P., additional, Gecz, Jozef, additional, MacLennan, Alastair H., additional, and Kruer, Michael C., additional

Published
2020
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239. Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis

Author

Boyden, Lynn M., primary, Zhou, Jing, additional, Hu, Ronghua, additional, Zaki, Theodore, additional, Loring, Erin, additional, Scott, Jared, additional, Traupe, Heiko, additional, Paller, Amy S., additional, Lifton, Richard P., additional, and Choate, Keith A., additional

Published
2020
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240. Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea

Author

Gao, Emily, primary, Cheema, Huma, additional, Waheed, Nadia, additional, Mushtaq, Iqra, additional, Erden, Nihan, additional, Nelson‐Williams, Carol, additional, Jain, Dhanpat, additional, Soroka, Carol J., additional, Boyer, James L., additional, Khalil, Youssef, additional, Clayton, Peter T., additional, Mistry, Pramod K., additional, Lifton, Richard P., additional, and Vilarinho, Sílvia, additional

Published
2020
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241. EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

Author

Hsieh, Alexander, primary, Morton, Sarah U., additional, Willcox, Jon A. L., additional, Gorham, Joshua M., additional, Tai, Angela C., additional, Qi, Hongjian, additional, DePalma, Steven, additional, McKean, David, additional, Griffin, Emily, additional, Manheimer, Kathryn B., additional, Bernstein, Daniel, additional, Kim, Richard W., additional, Newburger, Jane W., additional, Porter, George A., additional, Srivastava, Deepak, additional, Tristani-Firouzi, Martin, additional, Brueckner, Martina, additional, Lifton, Richard P., additional, Goldmuntz, Elizabeth, additional, Gelb, Bruce D., additional, Chung, Wendy K., additional, Seidman, Christine E., additional, Seidman, J. G., additional, and Shen, Yufeng, additional

Published
2020
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242. Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects

Author

Edwards, Jonathan J., primary, Rouillard, Andrew D., additional, Fernandez, Nicolas F., additional, Wang, Zichen, additional, Lachmann, Alexander, additional, Shankaran, Sunita S., additional, Bisgrove, Brent W., additional, Demarest, Bradley, additional, Turan, Nahid, additional, Srivastava, Deepak, additional, Bernstein, Daniel, additional, Deanfield, John, additional, Giardini, Alessandro, additional, Porter, George, additional, Kim, Richard, additional, Roberts, Amy E., additional, Newburger, Jane W., additional, Goldmuntz, Elizabeth, additional, Brueckner, Martina, additional, Lifton, Richard P., additional, Seidman, Christine E., additional, Chung, Wendy K., additional, Tristani-Firouzi, Martin, additional, Yost, H. Joseph, additional, Ma’ayan, Avi, additional, and Gelb, Bruce D., additional

Published
2020
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243. Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis

Author

Jobst-Schwan, Tilman, primary, Klämbt, Verena, additional, Tarsio, Maureen, additional, Heneghan, John F., additional, Majmundar, Amar J., additional, Shril, Shirlee, additional, Buerger, Florian, additional, Ottlewski, Isabel, additional, Shmukler, Boris E., additional, Topaloglu, Rezan, additional, Hashmi, Seema, additional, Hafeez, Farkhanda, additional, Emma, Francesco, additional, Greco, Marcella, additional, Laube, Guido F., additional, Fathy, Hanan M., additional, Pohl, Martin, additional, Gellermann, Jutta, additional, Milosevic, Danko, additional, Baum, Michelle A., additional, Mane, Shrikant, additional, Lifton, Richard P., additional, Kane, Patricia M., additional, Alper, Seth L., additional, and Hildebrandt, Friedhelm, additional

Published
2020
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245. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Author

Bilgüvar, Kaya, Öztürk, Ali Kemal, Louvi, Angeliki, Kwan, Kenneth Y., Choi, Murim, Tatl, Burak, Yalnzoğlu, Dilek, Tüysüz, Beyhan, Çağlayan, Ahmet Okay, Gökben, Sarenur, Kaymakçalan, Hande, Barak, Tanyeri, Bakrcoğlu, Mehmet, Yasuno, Katsuhito, Ho, Winson, Sanders, Stephan, Zhu, Ying, Ylmaz, Sanem, Dinçer, Alp, Johnson, Michele H., Bronen, Richard A., Koçer, Naci, Per, Hüseyin, Mane, Shrikant, Pamir, Mehmet Necmettin, Yalçnkaya, Cengiz, Kumandaş, Sefer, Topçu, Meral, Özmen, Meral, Šestan, Nenad, Lifton, Richard P., State, Matthew W., and Günel, Murat

Published
2010
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246. CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations

Author

Mann, Nina, primary, Kause, Franziska, additional, Henze, Erik K., additional, Gharpure, Anant, additional, Shril, Shirlee, additional, Connaughton, Dervla M., additional, Nakayama, Makiko, additional, Klämbt, Verena, additional, Majmundar, Amar J., additional, Wu, Chen-Han W., additional, Kolvenbach, Caroline M., additional, Dai, Rufeng, additional, Chen, Jing, additional, van der Ven, Amelie T., additional, Ityel, Hadas, additional, Tooley, Madeleine J., additional, Kari, Jameela A., additional, Bownass, Lucy, additional, El Desoky, Sherif, additional, De Franco, Elisa, additional, Shalaby, Mohamed, additional, Tasic, Velibor, additional, Bauer, Stuart B., additional, Lee, Richard S., additional, Beckel, Jonathan M., additional, Yu, Weiqun, additional, Mane, Shrikant M., additional, Lifton, Richard P., additional, Reutter, Heiko, additional, Ellard, Sian, additional, Hibbs, Ryan E., additional, Kawate, Toshimitsu, additional, and Hildebrandt, Friedhelm, additional

Published
2019
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247. TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome

Author

Kampf, Lina L., primary, Schneider, Ronen, additional, Gerstner, Lea, additional, Thünauer, Roland, additional, Chen, Mengmeng, additional, Helmstädter, Martin, additional, Amar, Ali, additional, Onuchic-Whitford, Ana C., additional, Loza Munarriz, Reyner, additional, Berdeli, Afig, additional, Müller, Dominik, additional, Schrezenmeier, Eva, additional, Budde, Klemens, additional, Mane, Shrikant, additional, Laricchia, Kristen M., additional, Rehm, Heidi L., additional, MacArthur, Daniel G., additional, Lifton, Richard P., additional, Walz, Gerd, additional, Römer, Winfried, additional, Bergmann, Carsten, additional, Hildebrandt, Friedhelm, additional, and Hermle, Tobias, additional

Published
2019
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248. Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia

Author

Boyden, Lynn M., primary, Atzmony, Lihi, additional, Hamilton, Claire, additional, Zhou, Jing, additional, Lim, Young H., additional, Hu, Ronghua, additional, Pappas, John, additional, Rabin, Rachel, additional, Ekstien, Joseph, additional, Hirsch, Yoel, additional, Prendiville, Julie, additional, Lifton, Richard P., additional, Ferguson, Shawn, additional, and Choate, Keith A., additional

Published
2019
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249. Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy

Author

Zammataro, Luca, primary, Lopez, Salvatore, additional, Bellone, Stefania, additional, Pettinella, Francesca, additional, Bonazzoli, Elena, additional, Perrone, Emanuele, additional, Zhao, Siming, additional, Menderes, Gulden, additional, Altwerger, Gary, additional, Han, Chanhee, additional, Zeybek, Burak, additional, Bianchi, Anna, additional, Manzano, Aranzazu, additional, Manara, Paola, additional, Cocco, Emiliano, additional, Buza, Natalia, additional, Hui, Pei, additional, Wong, Serena, additional, Ravaggi, Antonella, additional, Bignotti, Eliana, additional, Romani, Chiara, additional, Todeschini, Paola, additional, Zanotti, Laura, additional, Odicino, Franco, additional, Pecorelli, Sergio, additional, Donzelli, Carla, additional, Ardighieri, Laura, additional, Angioli, Roberto, additional, Raspagliesi, Francesco, additional, Scambia, Giovanni, additional, Choi, Jungmin, additional, Dong, Weilai, additional, Bilguvar, Kaya, additional, Alexandrov, Ludmil B., additional, Silasi, Dan-Arin, additional, Huang, Gloria S., additional, Ratner, Elena, additional, Azodi, Masoud, additional, Schwartz, Peter E., additional, Pirazzoli, Valentina, additional, Stiegler, Amy L., additional, Boggon, Titus J., additional, Lifton, Richard P., additional, Schlessinger, Joseph, additional, and Santin, Alessandro D., additional

Published
2019
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