Search Results - "Ptacek, Louis"

Human circadian variations by Gentry, Nicholas W, Ashbrook, Liza H, Fu, Ying-Hui, Ptáček, Louis J

“…Circadian rhythms, present in most phyla across life, are biological oscillations occurring on a daily cycle. Since the discovery of their molecular…”
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The whole is greater than the sum of the parts by Ptáček, Louis J, Fu, Ying-Hui

“…Over the last 30 years, biomedical research has become increasingly interdisciplinary, and collaboration has become ever more important. Most investigators in…”
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Genetic basis of human circadian rhythm disorders by Jones, Christopher R., Huang, Angela L., Ptáček, Louis J., Fu, Ying-Hui

“…Circadian rhythm disorders constitute a group of phenotypes that usually present as altered sleep–wake schedules. Until a human genetics approach was applied…”
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Microfluidic droplet enrichment for targeted sequencing by Eastburn, Dennis J, Huang, Yong, Pellegrino, Maurizio, Sciambi, Adam, Ptáček, Louis J, Abate, Adam R

“…Targeted sequence enrichment enables better identification of genetic variation by providing increased sequencing coverage for genomic regions of interest…”
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Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions by Lee, Hsien-Yang, Huang, Yong, Bruneau, Nadine, Roll, Patrice, Roberson, Elisha D.O., Hermann, Mark, Quinn, Emily, Maas, James, Edwards, Robert, Ashizawa, Tetsuo, Baykan, Betul, Bhatia, Kailash, Bressman, Susan, Bruno, Michiko K., Brunt, Ewout R., Caraballo, Roberto, Echenne, Bernard, Fejerman, Natalio, Frucht, Steve, Gurnett, Christina A., Hirsch, Edouard, Houlden, Henry, Jankovic, Joseph, Lee, Wei-Ling, Lynch, David R., Mohammed, Shehla, Müller, Ulrich, Nespeca, Mark P., Renner, David, Rochette, Jacques, Rudolf, Gabrielle, Saiki, Shinji, Soong, Bing-Wen, Swoboda, Kathryn J., Tucker, Sam, Wood, Nicholas, Hanna, Michael, Bowcock, Anne M., Szepetowski, Pierre, Fu, Ying-Hui, Ptáček, Louis J.

“…Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder with autosomal-dominant inheritance and high penetrance,…”
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Impact of Sleep and Circadian Disruption on Energy Balance and Diabetes: A Summary of Workshop Discussions by Arble, Deanna M, Bass, Joseph, Behn, Cecilia Diniz, Butler, Matthew P, Challet, Etienne, Czeisler, Charles, Depner, Christopher M, Elmquist, Joel, Franken, Paul, Grandner, Michael A, Hanlon, Erin C, Keene, Alex C, Joyner, Michael J, Karatsoreos, Ilia, Kern, Philip A, Klein, Samuel, Morris, Christopher J, Pack, Allan I, Panda, Satchidananda, Ptacek, Louis J, Punjabi, Naresh M, Sassone-Corsi, Paolo, Scheer, Frank A, Saxena, Richa, Seaquest, Elizabeth R, Thimgan, Matthew S, Van Cauter, Eve, Wright, Kenneth P

“…A workshop was held at the National Institute for Diabetes and Digestive and Kidney Diseases with a focus on the impact of sleep and circadian disruption on…”
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Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome by Fu, Ying-Hui, Padiath, Quasar S, Saigoh, Noriko, Xu, Ying, Saigoh, Kazumasa, Wu, Susan C, Jones, Christopher R, Shapiro, Robert E, Ptá ek, Louis J

“…Familial advanced sleep phase syndrome (FASPS) is a human behavioural phenotype characterized by early sleep times and early-morning awakening. It was the…”
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Guidelines for Genome-Scale Analysis of Biological Rhythms by Hughes, Michael E., Abruzzi, Katherine C., Allada, Ravi, Anafi, Ron, Arpat, Alaaddin Bulak, Asher, Gad, Baldi, Pierre, de Bekker, Charissa, Bell-Pedersen, Deborah, Blau, Justin, Brown, Steve, Ceriani, M. Fernanda, Chen, Zheng, Chiu, Joanna C., Cox, Juergen, Crowell, Alexander M., DeBruyne, Jason P., Dijk, Derk-Jan, DiTacchio, Luciano, Doyle, Francis J., Duffield, Giles E., Dunlap, Jay C., Eckel-Mahan, Kristin, Esser, Karyn A., FitzGerald, Garret A., Forger, Daniel B., Francey, Lauren J., Fu, Ying-Hui, Gachon, Frédéric, Gatfield, David, de Goede, Paul, Golden, Susan S., Green, Carla, Harer, John, Harmer, Stacey, Haspel, Jeff, Hastings, Michael H., Herzel, Hanspeter, Herzog, Erik D., Hoffmann, Christy, Hong, Christian, Hughey, Jacob J., Hurley, Jennifer M., de la Iglesia, Horacio O., Johnson, Carl, Kay, Steve A., Koike, Nobuya, Kornacker, Karl, Kramer, Achim, Lamia, Katja, Leise, Tanya, Lewis, Scott A., Li, Jiajia, Li, Xiaodong, Liu, Andrew C., Loros, Jennifer J., Martino, Tami A., Menet, Jerome S., Merrow, Martha, Millar, Andrew J., Mockler, Todd, Naef, Felix, Nagoshi, Emi, Nitabach, Michael N., Olmedo, Maria, Nusinow, Dmitri A., Ptáček, Louis J., Rand, David, Reddy, Akhilesh B., Robles, Maria S., Roenneberg, Till, Rosbash, Michael, Ruben, Marc D., Rund, Samuel S.C., Sancar, Aziz, Sassone-Corsi, Paolo, Sehgal, Amita, Sherrill-Mix, Scott, Skene, Debra J., Storch, Kai-Florian, Takahashi, Joseph S., Ueda, Hiroki R., Wang, Han, Weitz, Charles, Westermark, Pål O., Wijnen, Herman, Xu, Ying, Wu, Gang, Yoo, Seung-Hee, Young, Michael, Zhang, Eric Erquan, Zielinski, Tomasz, Hogenesch, John B.

“…Genome biology approaches have made enormous contributions to our understanding of biological rhythms, particularly in identifying outputs of the clock,…”
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Understanding the role of dicer in astrocyte development by Howng, Shen-Yi Bruce, Huang, Yong, Ptáček, Louis, Fu, Ying-Hui

“…The Dicer1 allele is used to show that microRNAs (miRNAs) play important roles in astrocyte development and functions. While it is known that astrocytes that…”
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Andersen-Tawil syndrome: Report of 3 novel mutations and high risk of symptomatic cardiac involvement by Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Pruszczyk, Piotr, Bieganowska, Katarzyna, Miszczak-Knecht, Maria, Bienias, Piotr, szczałuba, krzysztof, Lee, Hsien-Yang, Quinn, Emily, Ploski, Rafal, Kaminska, Anna, Ptáček, Louis J.

“…ABSTRACT Introduction: Andersen–Tawil syndrome (ATS) is a potassium channelopathy affecting cardiac and skeletal muscle. Periodic paralysis is a presenting…”
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Human PERIOD3 variants lead to winter depression-like behaviours via glucocorticoid signalling by Gao, Qian, Tang, Zhiwei, Wang, Haili, Yamazaki, Maya, Jiang, Jia, Fu, Ying-Hui, Ptacek, Louis J., Zhang, Luoying

“…Our brain adapts to seasonal changes. Mis-adaptations may lead to seasonal patterns in several psychiatric disorders, but we know little regarding the…”
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Sick and tired: how molecular regulators of human sleep schedules and duration impact immune function by Kurien, Philip A, Chong, SY Christin, Ptáček, Louis J, Fu, Ying-Hui

“…Highlights • Two-process model for sleep has distinct circadian (Process C) and homeostatic (Process S) components. • Mendelian genes exist for advancing sleep…”
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Nuclear envelope protein MAN1 regulates clock through BMAL1 by Lin, Shu-Ting, Zhang, Luoying, Lin, Xiaoyan, Zhang, Linda Chen, Garcia, Valentina Elizabeth, Tsai, Chen-Wei, Ptáček, Louis, Fu, Ying-Hui

“…Circadian clocks serve as internal pacemakers that influence many basic homeostatic processes; consequently, the expression and function of their components…”
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Circadian Rhythm Gene Period 3 Is an Inhibitor of the Adipocyte Cell Fate by Costa, Maria Jose, So, Alex Y.-L., Kaasik, Krista, Krueger, Katherine C., Pillsbury, Marlisa L., Fu, Ying-Hui, Ptacek, Louis J., Yamamoto, Keith R., Feldman, Brian J.

“…Glucocorticoids rapidly and robustly induce cell fate decisions in various multipotent cells, although the precise mechanisms of these important cellular…”
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Familial cortical myoclonus with a mutation in NOL3 by Russell, Jonathan F., Steckley, Jamie L., Coppola, Giovanni, G. Hahn, Angelika F., Howard, MacKenzie A., Kornberg, Zachary, Huang, Alden, Mirsattari, Seyed M., Merriman, Barry, Klein, Eric, Choi, Murim, Lee, Hsien-Yang, Kirk, Andrew, Nelson-Williams, Carol, Gibson, Gillian, Baraban, Scott C., Lifton, Richard P., Geschwind, Daniel H., Fu, Ying-Hui, Ptáček, Louis J.

“…Objective: Myoclonus is characterized by sudden, brief involuntary movements, and its presence is debilitating. We identified a family suffering from adult…”
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Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome) by Tristani-Firouzi, Martin, Jensen, Judy L, Donaldson, Matthew R, Sansone, Valeria, Meola, Giovanni, Hahn, Angelika, Bendahhou, Said, Kwiecinski, Hubert, Fidzianska, Anna, Plaster, Nikki, Fu, Ying-Hui, Ptacek, Louis J, Tawil, Rabi

“…Andersen syndrome (AS) is a rare, inherited disorder characterized by periodic paralysis, long QT (LQT) with ventricular arrhythmias, and skeletal…”
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The intricate dance of post-translational modifications in the rhythm of life by Hirano, Arisa, Fu, Ying-Hui, Ptáček, Louis J

“…Clock proteins are controlled by multiple post-translational modifications during the circadian cycle. In this Review, the authors examine how…”
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Familial natural short sleep mutations reduce Alzheimer pathology in mice by Dong, Qing, Gentry, Nicholas W., McMahon, Thomas, Yamazaki, Maya, Benitez-Rivera, Lorena, Wang, Tammy, Gan, Li, Ptáček, Louis, Fu, Ying-Hui

“…Although numerous studies have demonstrated that poor sleep increases the development of AD, direct evidence elucidating the benefits of good sleep on the AD…”
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An hPer2 Phosphorylation Site Mutation in Familial Advanced Sleep Phase Syndrome by Toh, Kong L., Jones, Christopher R., He, Yan, Eide, Erik J., Hinz, William A., Virshup, David M., Ptáček, Louis J., Fu, Ying-Hui

“…Familial advanced sleep phase syndrome (FASPS) is an autosomal dominant circadian rhythm variant; affected individuals are "morning larks" with a 4-hour…”
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Electrocardiographic features in andersen-tawil syndrome patients with KCNJ2 mutations : Characteristic T-U-wave patterns predict the KCNJ2 genotype by LI ZHANG, BENSON, D. Woodrow, FU, Ying-Hui, ACKERMAN, Michael J, VINCENT, G. Michael, TRISTANI-FIROUZI, Martin, PTACEK, Louis J, TAWIL, Rabi, SCHWARTZ, Peter J, GEORGE, Alfred L, HORIE, Minoru, ANDELFINGER, Gregor, SNOW, Gregory L

“…The ECG features of Andersen-Tawil syndrome (ATS) patients with KCNJ2 mutations (ATS1) have not been systematically assessed. This study aimed to define ECG…”
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