Search Results - "SCHAAF, P"

The human clinical phenotypes of altered CHRNA7 copy number by Gillentine, Madelyn A., Schaaf, Christian P.

“…Copy number variants (CNVs) have been implicated in multiple neuropsychiatric conditions, including autism spectrum disorder (ASD), schizophrenia, and…”
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Solving the Autism Puzzle a Few Pieces at a Time by Schaaf, Christian P., Zoghbi, Huda Y.

“…In this issue, a pair of studies (Levy et al. and Sanders et al.) identify several de novo copy-number variants that together account for 5%–8% of cases of…”
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Quantitative real-time imaging of glutathione by Jiang, Xiqian, Chen, Jianwei, Bajić, Aleksandar, Zhang, Chengwei, Song, Xianzhou, Carroll, Shaina L., Cai, Zhao-Lin, Tang, Meiling, Xue, Mingshan, Cheng, Ninghui, Schaaf, Christian P., Li, Feng, MacKenzie, Kevin R., Ferreon, Allan Chris M., Xia, Fan, Wang, Meng C., Maletić-Savatić, Mirjana, Wang, Jin

“…Glutathione plays many important roles in biological processes; however, the dynamic changes of glutathione concentrations in living cells remain largely…”
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Laser nitriding of metals by Schaaf, Peter

“…Laser nitriding can be described as the irradiation of metal surfaces by short laser pulses in nitrogen containing atmospheres. This may lead to a strong…”
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USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder by Hao, Yi-Heng, Fountain, Michael D., Fon Tacer, Klementina, Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Rosenfeld, Jill A., Le Caignec, Cédric, Isidor, Bertrand, Krantz, Ian D., Noon, Sarah E., Pfotenhauer, Jean P., Morgan, Thomas M., Moran, Rocio, Pedersen, Robert C., Saenz, Margarita S., Schaaf, Christian P., Potts, Patrick Ryan

“…Endosomal protein recycling is a fundamental cellular process important for cellular homeostasis, signaling, and fate determination that is implicated in…”
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Impact of the physical environment of psychiatric wards on the use of seclusion by van der Schaaf, P. S., Dusseldorp, E., Keuning, F. M., Janssen, W. A., Noorthoorn, E. O.

“…The physical environment is presumed to have an effect on aggression and also on the use of seclusion on psychiatric wards. Multicentre studies that include a…”
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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism by Schaaf, Christian P, Gonzalez-Garay, Manuel L, Xia, Fan, Potocki, Lorraine, Gripp, Karen W, Zhang, Baili, Peters, Brock A, McElwain, Mark A, Drmanac, Radoje, Beaudet, Arthur L, Caskey, C Thomas, Yang, Yaping

“…Christian Schaaf, Manuel Gonzalez-Garay and colleagues report the identification of four individuals with truncating mutations on the paternal allele of MAGEL2…”
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Anxiety, depression, and PTSD following cardiac arrest: A systematic review of the literature by Wilder Schaaf, Kathryn P, Artman, Laura K, Peberdy, Mary Ann, Walker, William C, Ornato, Joseph P, Gossip, Michelle R, Kreutzer, Jeffrey S

“…Abstract Objectives Identify the occurrence rate of post-arrest psychological distress; evaluate methodological approaches; suggest future research priorities;…”
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Translational pediatrics: clinical perspective for Phelan–McDermid syndrome and autism research by Sakai, Yasunari, Okuzono, Sayaka, Schaaf, Christian P., Ohga, Shouichi

“…Phelan–McDermid syndrome (PMS) is a rare genetic disorder presenting with developmental delay, epilepsy, and autism spectrum disorder (ASD). The segmental…”
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Modulation of Cellular Colonization of Porous Polyurethane Scaffolds via the Control of Pore Interconnection Size and Nanoscale Surface Modifications by Lutzweiler, G, Barthes, J, Koenig, G, Kerdjoudj, H, Mayingi, J, Boulmedais, F, Schaaf, P, Drenckhan, W, Vrana, N. E

“…Full-scale cell penetration within porous scaffolds is required to obtain functional connective tissue components in tissue engineering applications. For this…”
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Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies by Althammer, Ferdinand, Muscatelli, Francoise, Grinevich, Valery, Schaaf, Christian P.

“…The prosocial neuropeptide oxytocin is being developed as a potential treatment for various neuropsychiatric disorders including autism spectrum disorder…”
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Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells by Gillentine, Madelyn A., Yin, Jiani, Bajic, Aleksandar, Zhang, Ping, Cummock, Steven, Kim, Jean J., Schaaf, Christian P.

“…Copy-number variants (CNVs) of chromosome 15q13.3 manifest clinically as neuropsychiatric disorders with variable expressivity. CHRNA7, encoding for the α7…”
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Schaaf‐Yang syndrome overview: Report of 78 individuals by McCarthy, John, Lupo, Philip J., Kovar, Erin, Rech, Megan, Bostwick, Bret, Scott, Daryl, Kraft, Katerina, Roscioli, Tony, Charrow, Joel, Schrier Vergano, Samantha A., Lose, Edward, Smiegel, Robert, Lacassie, Yves, Schaaf, Christian P.

“…Schaaf‐Yang Syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally…”
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Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome by Yin, Jiani, Chen, Wu, Chao, Eugene S., Soriano, Sirena, Wang, Li, Wang, Wei, Cummock, Steven E., Tao, Huifang, Pang, Kaifang, Liu, Zhandong, Pereira, Fred A., Samaco, Rodney C., Zoghbi, Huda Y., Xue, Mingshan, Schaaf, Christian P.

“…15q13.3 microdeletion syndrome is characterized by a wide spectrum of neurodevelopmental disorders, including developmental delay, intellectual disability,…”
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Ultrasonic excitation during press-fit joining of electrical contacts by Halm, C., Otto, A., Stark, T., Schaaf, P.

“…Ultrasonic excitation of pins during a press-in process can reduce the press-in force. There are various theories describing the reason for the force…”
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Molecular Basis for the Explanation of the Exponential Growth of Polyelectrolyte Multilayers by Picart, C., Mutterer, J., Richert, L., Luo, Y., Prestwich, G. D., Schaaf, P., J.-C. Voegel, Lavalle, P.

“…The structure of poly(L-lysine) (PLL)/hyaluronan (HA) polyelectrolyte multilayers formed by electrostatic self-assembly is studied by using confocal laser…”
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An analgesic pathway from parvocellular oxytocin neurons to the periaqueductal gray in rats by Iwasaki, Mai, Lefevre, Arthur, Althammer, Ferdinand, Clauss Creusot, Etienne, Łąpieś, Olga, Petitjean, Hugues, Hilfiger, Louis, Kerspern, Damien, Melchior, Meggane, Küppers, Stephanie, Krabichler, Quirin, Patwell, Ryan, Kania, Alan, Gruber, Tim, Kirchner, Matthew K., Wimmer, Moritz, Fröhlich, Henning, Dötsch, Laura, Schimmer, Jonas, Herpertz, Sabine C., Ditzen, Beate, Schaaf, Christian P., Schönig, Kai, Bartsch, Dusan, Gugula, Anna, Trenk, Aleksandra, Blasiak, Anna, Stern, Javier E., Darbon, Pascal, Grinevich, Valery, Charlet, Alexandre

“…The hypothalamic neuropeptide oxytocin (OT) exerts prominent analgesic effects via central and peripheral action. However, the precise analgesic pathways…”
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Facebook Support Groups for Pediatric Rare Diseases: Cross-Sectional Study to Investigate Opportunities, Limitations, and Privacy Concerns by Titgemeyer, Sarah Catrin, Schaaf, Christian P

“…Because of the nature of rare diseases with affected individuals being widely geographically dispersed, finding an in-person/offline support group itself can…”
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Magel2 knockout mice manifest altered social phenotypes and a deficit in preference for social novelty by Fountain, M. D., Tao, H., Chen, C.‐A., Yin, J., Schaaf, C. P.

“…MAGEL2 is one of five protein‐coding, maternally imprinted, paternally expressed genes in the Prader–Willi syndrome (PWS)‐critical domain on chromosome…”
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Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway by Enns, Gregory M., Shashi, Vandana, Bainbridge, Matthew, Gambello, Michael J., Zahir, Farah R., Bast, Thomas, Crimian, Rebecca, Schoch, Kelly, Platt, Julia, Cox, Rachel, Bernstein, Jonathan A., Scavina, Mena, Walter, Rhonda S., Bibb, Audrey, Jones, Melanie, Hegde, Madhuri, Graham, Brett H., Need, Anna C., Oviedo, Angelica, Schaaf, Christian P., Boyle, Sean, Butte, Atul J., Chen, Rong, Clark, Michael J., Haraksingh, Rajini, Cowan, Tina M., He, Ping, Langlois, Sylvie, Zoghbi, Huda Y., Snyder, Michael, Gibbs, Richard A., Freeze, Hudson H., Goldstein, David B.

“…Purpose: The endoplasmic reticulum–associated degradation pathway is responsible for the translocation of misfolded proteins across the endoplasmic reticulum…”
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