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Identification and Functional Characterization of Two Novel NPR2 Mutations in Japanese Patients With Short Stature
Amano, Naoko, Mukai, Tokuo, Ito, Yoshiya, Narumi, Satoshi, Tanaka, Toshiaki, Yokoya, Susumu, Ogata, Tsutomu, Hasegawa, Tomonobu
Published in The journal of clinical endocrinology and metabolism (01.04.2014)
Published in The journal of clinical endocrinology and metabolism (01.04.2014)
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A single‐center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion
Nardella, Grazia, Visci, Grazia, Guarnieri, Vito, Castellana, Stefano, Biagini, Tommaso, Bisceglia, Luigi, Palumbo, Orazio, Trivisano, Marina, Vaira, Carmela, Scerrati, Massimo, Debrasi, Davide, D'Angelo, Vincenzo, Carella, Massimo, Merla, Giuseppe, Mazza, Tommaso, Castori, Marco, D'Agruma, Leonardo, Fusco, Carmela
Published in Human mutation (01.12.2018)
Published in Human mutation (01.12.2018)
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SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion
Aldosary, Mazhor, Baselm, Shahad, Abdulrahim, Maha, Almass, Rawan, Alsagob, Maysoon, AlMasseri, Zainab, Huma, Rozeena, AlQuait, Laila, Al‐Shidi, Tarfa, Al‐Obeid, Eman, AlBakheet, Albandary, Alahideb, Basma, Alahaidib, Lujane, Qari, Alya, Taylor, Robert W., Colak, Dilek, AlSayed, Moeenaldeen D., Kaya, Namik
Published in JIMD reports (01.07.2021)
Published in JIMD reports (01.07.2021)
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Mammary Fat of Breast Cancer: Gene Expression Profiling and Functional Characterization
Wang, Fengliang, Gao, Sheng, Chen, Fei, Fu, Ziyi, Yin, Hong, Lu, Xun, Yu, Jing, Lu, Cheng
Published in PloS one (07.10.2014)
Published in PloS one (07.10.2014)
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Identification, modeling and ligand affinity of early deuterostome CYP51s, and functional characterization of recombinant zebrafish sterol 14α-demethylase
Morrison, Ann Michelle Stanley, Goldstone, Jared V., Lamb, David C., Kubota, Akira, Lemaire, Benjamin, Stegeman, John J.
Published in Biochimica et biophysica acta (01.06.2014)
Published in Biochimica et biophysica acta (01.06.2014)
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Human Adipose-Derived Stem Cells in Madelung’s Disease: Morphological and Functional Characterization
Caponnetto, Federica, Manini, Ivana, Bulfoni, Michela, Zingaretti, Nicola, Miotti, Giovanni, Di Loreto, Carla, Cesselli, Daniela, Mariuzzi, Laura, Parodi, Pier Camillo
Published in Cells (Basel, Switzerland) (30.12.2020)
Published in Cells (Basel, Switzerland) (30.12.2020)
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Identification and Functional Characterization of Novel Venom Components
Year of Publication 2020
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Systematic Analysis of the Pleurotus ostreatus Laccase Gene (PoLac) Family and Functional Characterization of PoLac2 Involved in the Degradation of Cotton-Straw Lignin
Jiao, Xiaoyu, Li, Guoqing, Wang, Yan, Nie, Fan, Cheng, Xi, Abdullah, Muhammad, Lin, Yi, Cai, Yongping
Published in Molecules (Basel, Switzerland) (11.04.2018)
Published in Molecules (Basel, Switzerland) (11.04.2018)
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Functional characterization of isolated RNA-binding domains of the GRSF1 protein
Sofi, Sajad, Stehling, Sabine, Niewienda, Agathe, Janek, Katharina, Kuhn, Hartmut, Ufer, Christoph
Published in Biochimica et biophysica acta (01.04.2018)
Published in Biochimica et biophysica acta (01.04.2018)
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Expression profile and functional characterization of odorant binding proteins in a forest pest, Dioryctria abietella (Lepidoptera: Pyralidae)
Guo, Yu-Ruo, Yin, Ning-Na, Wu, Chun, Yang, Zi-Xuan, Wang, Zheng-Quan, Liu, Nai-Yong
Published in Comparative Biochemistry and Physiology Part B: Biochemistry and Molecular Biology (01.06.2023)
Published in Comparative Biochemistry and Physiology Part B: Biochemistry and Molecular Biology (01.06.2023)
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Structural and functional characterization of retinal impairment in T1DM patients without diabetic retinopathy: a 3-year longitudinal study
Sacconi, Riccardo, Tombolini, Beatrice, Cartabellotta, Antonio, Zerbini, Gianpaolo, Bandello, Francesco, Querques, Giuseppe
Published in Acta diabetologica (01.11.2024)
Published in Acta diabetologica (01.11.2024)
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Functional characterization and FTIR-based 3D modeling of full length and truncated forms of Scorpio maurus venom phospholipase A2
Krayem, Najeh, Parsiegla, Goetz, Gaussier, Hélène, Louati, Hanen, Jallouli, Raida, Mansuelle, Pascal, Carrière, Frédéric, Gargouri, Youssef
Published in Biochimica et biophysica acta. General subjects (01.05.2018)
Published in Biochimica et biophysica acta. General subjects (01.05.2018)
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Functional Characterization of Human Pluripotent Stem Cell-Derived Models of the Brain with Microelectrode Arrays
Pelkonen, Anssi, Pistono, Cristiana, Klecki, Pamela, Gómez-Budia, Mireia, Dougalis, Antonios, Konttinen, Henna, Stanová, Iveta, Fagerlund, Ilkka, Leinonen, Ville, Korhonen, Paula, Malm, Tarja
Published in Cells (Basel, Switzerland) (29.12.2021)
Published in Cells (Basel, Switzerland) (29.12.2021)
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Structural and Functional Characterization of Gray Matter Alterations in Female Patients With Neuropsychiatric Systemic Lupus
Su, Li, Zhuo, Zhizheng, Duan, Yunyun, Huang, Jing, Qiu, Xiaolu, Li, Mengtao, Liu, Yaou, Zeng, Xiaofeng
Published in Frontiers in neuroscience (02.05.2022)
Published in Frontiers in neuroscience (02.05.2022)
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Polymorphisms within Autophagy-Related Genes as Susceptibility Biomarkers for Multiple Myeloma: A Meta-Analysis of Three Large Cohorts and Functional Characterization
Clavero, Esther, Sanchez-Maldonado, José Manuel, Macauda, Angelica, Ter Horst, Rob, Marques, Maria Belém Sousa Sampaio, Jurczyszyn, Artur, Clay-Gilmour, Alyssa, Stein, Angelika, Hildebrandt, Michelle A. T., Weinhold, Niels, Buda, Gabriele, García-Sanz, Ramón, Tomczak, Waldemar, Vogel, Ulla, Jerez, Andrés, Zawirska, Daria, Wątek, Marzena, Hofmann, Jonathan N., Landi, Stefano, Spinelli, John J., Butrym, Aleksandra, Kumar, Abhishek, Martínez-López, Joaquín, Galimberti, Sara, Sarasquete, María Eugenia, Subocz, Edyta, Iskierka-Jażdżewska, Elzbieta, Giles, Graham G., Rybicka-Ramos, Malwina, Kruszewski, Marcin, Abildgaard, Niels, Verdejo, Francisco García, Sánchez Rovira, Pedro, da Silva Filho, Miguel Inacio, Kadar, Katalin, Razny, Małgorzata, Cozen, Wendy, Pelosini, Matteo, Jurado, Manuel, Bhatti, Parveen, Dudzinski, Marek, Druzd-Sitek, Agnieszka, Orciuolo, Enrico, Li, Yang, Norman, Aaron D., Zaucha, Jan Maciej, Reis, R. M., Markiewicz, Miroslaw, Rodríguez Sevilla, Juan José, Andersen, Vibeke, Jamroziak, Krzysztof, Hemminki, Kari, Berndt, Sonja I., Rajkumar, Vicent, Mazur, Grzegorz, Kumar, Shaji K., Ludovico, Paula, Nagler, Arnon, Chanock, Stephen J., Dumontet, Charles, Machiela, Mitchell J., Varkonyi, Judit, Camp, Nicola J., Ziv, Elad, Vangsted, Annette Juul, Brown, Elizabeth E., Campa, Daniele, Vachon, Celine M., Netea, Mihai G., Canzian, Federico, Försti, Asta, Sainz, Juan
Published in International Journal of Molecular Sciences (09.05.2023)
Published in International Journal of Molecular Sciences (09.05.2023)
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Functional characterization of in vivo effector CD4 + and CD8 + T cell responses in acute Toxoplasmosis: An interplay of IFN-γ and cytolytic T cells
Jongert, Erik, Lemiere, Arnaud, Van Ginderachter, Jo, De Craeye, Stéphane, Huygen, Kris, D'Souza, Sushila
Published in Vaccine (16.03.2010)
Published in Vaccine (16.03.2010)
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Genome-Wide Investigation of Apyrase and Functional Characterization of a Pod-Abundant Expression Promoter IAhAPY2-1p/I
Sharif, Yasir, Mamadou, Gandeka, Yang, Qiang, Cai, Tiecheng, Zhuang, Yuhui, Chen, Kun, Deng, Ye, Khan, Shahid Ali, Ali, Niaz, Zhang, Chong, Raza, Ali, Chen, Hua, Varshney, Rajeev K, Zhuang, Weijian
Published in International journal of molecular sciences (01.02.2023)
Published in International journal of molecular sciences (01.02.2023)
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Functional Characterization of TNNC1 Rare Variants Identified in Dilated Cardiomyopathy
Pinto, Jose Renato, Siegfried, Jill D., Parvatiyar, Michelle S., Li, Duanxiang, Norton, Nadine, Jones, Michelle A., Liang, Jingsheng, Potter, James D., Hershberger, Ray E.
Published in The Journal of biological chemistry (30.09.2011)
Published in The Journal of biological chemistry (30.09.2011)
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