Loading…
Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavα1S-subunit
Pirone, Antonella, Schredelseker, Johann, Tuluc, Petronel, Gravino, Elvira, Fortunato, Giuliana, Flucher, Bernhard E., Carsana, Antonella, Salvatore, Francesco, Grabner, Manfred
Published in American Journal of Physiology: Cell Physiology (01.12.2010)
Published in American Journal of Physiology: Cell Physiology (01.12.2010)
Get full text
Journal Article
Loading…
Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention
Kim, So Young, Kim, Ah Reum, Kim, Nayoung K.D., Lee, Chung, Han, Jin Hee, Kim, Min Young, Jeon, Eun-Hee, Park, Woong-Yang, Mittal, Rahul, Yan, Denise, Liu, Xue Zhong, Choi, Byung Yoon
Published in The journal of gene medicine (01.11.2016)
Published in The journal of gene medicine (01.11.2016)
Get full text
Journal Article
Loading…
Loading…
Functional Characterization of Promoter Variants of the Adiponectin Gene Complemented by Epidemiological Data
Laumen, Helmut, Saningong, Akuma D., Heid, Iris M., Hess, Jochen, Herder, Christian, Claussnitzer, Melina, Baumert, Jens, Lamina, Claudia, Rathmann, Wolfgang, Sedlmeier, Eva-Maria, Klopp, Norman, Thorand, Barbara, Wichmann, H.-Erich, Illig, Thomas, Hauner, Hans
Published in Diabetes (New York, N.Y.) (01.04.2009)
Published in Diabetes (New York, N.Y.) (01.04.2009)
Get full text
Journal Article
Loading…
Loading…
Functional characterization of p.Pro409His variant in HNF1A, a hypomorphic mutation involved in pancreatic β-cell dysfunction
Nocera, Donatella, Menniti, Miranda, Belviso, Stefania, Bond, Heather Mandy, Lanzillotta, Delia, Spoleti, Cristina Barbara, Guagliardi, Maria Rosaria, Malatesta, Paola, Trapasso, Francesco, Irace, Concetta, Perrotti, Nicola, Iuliano, Rodolfo
Published in Acta diabetologica (01.08.2019)
Published in Acta diabetologica (01.08.2019)
Get full text
Journal Article
Loading…
Phenotypical Analysis of the Lactobacillus rhamnosus GG Fimbrial spaFED Operon: Surface Expression and Functional Characterization of Recombinant SpaFED Pili in Lactococcus lactis
Rintahaka, Johanna, Yu, Xia, Kant, Ravi, Palva, Airi, von Ossowski, Ingemar
Published in PloS one (21.11.2014)
Published in PloS one (21.11.2014)
Get full text
Journal Article
Loading…
Phenotypic and Functional Characterization of Human Memory T Cell Responses to Burkholderia pseudomallei
Tippayawat, Patcharaporn, Saenwongsa, Wipawee, Mahawantung, Jirawan, Suwannasaen, Duangchan, Chetchotisakd, Ploenchan, Limmathurotsakul, Direk, Peacock, Sharon J., Felgner, Philip L., Atkins, Helen S., Titball, Richard W., Bancroft, Gregory J., Lertmemongkolchai, Ganjana
Published in PLoS neglected tropical diseases (01.04.2009)
Published in PLoS neglected tropical diseases (01.04.2009)
Get full text
Journal Article
Loading…
Loading…
Prevalence, Spectrum, and Functional Characterization of Melanocortin-4 Receptor Gene Mutations in a Representative Population-Based Sample and Obese Adults from Germany
Hinney, Anke, Bettecken, Thomas, Tarnow, Patrick, Brumm, Harald, Reichwald, Kathrin, Lichtner, Peter, Scherag, André, Nguyen, Thuy Trang, Schlumberger, Pia, Rief, Winfried, Vollmert, Caren, Illig, Thomas, Wichmann, H-Erich, Schäfer, Helmut, Platzer, Matthias, Biebermann, Heike, Meitinger, Thomas, Hebebrand, Johannes
Published in The journal of clinical endocrinology and metabolism (01.05.2006)
Published in The journal of clinical endocrinology and metabolism (01.05.2006)
Get full text
Journal Article
Loading…
Fine phenotypic and functional characterization of effector cluster of differentiation 8 positive T cells in human patients with primary biliary cirrhosis
Tsuda, Masanobu, Ambrosini, Yoko M., Zhang, Weici, Yang, Guo‐Xiang, Ando, Yugo, Rong, Guanghua, Tsuneyama, Koichi, Sumida, Kosuke, Shimoda, Shinji, Bowlus, Christopher L., Leung, Patrick S.C., He, Xiao‐Song, Coppel, Ross L., Ansari, Aftab A., Lian, Zhe‐Xiong, Eric Gershwin, M.
Published in Hepatology (Baltimore, Md.) (01.10.2011)
Published in Hepatology (Baltimore, Md.) (01.10.2011)
Get full text
Journal Article
Loading…
CYP2D6 genotyping analysis and functional characterization of novel allelic variants in a Ni-Vanuatu and Kenyan population by assessing dextromethorphan O-demethylation activity
Gutiérrez Rico, Evelyn Marie, Kikuchi, Aoi, Saito, Takahiro, Kumondai, Masaki, Hishinuma, Eiji, Kaneko, Akira, Chan, Chim Wai, Gitaka, Jesse, Nakayoshi, Tomoki, Oda, Akifumi, Saito, Sakae, Hirasawa, Noriyasu, Hiratsuka, Masahiro
Published in Drug metabolism and pharmacokinetics (01.02.2020)
Published in Drug metabolism and pharmacokinetics (01.02.2020)
Get full text
Journal Article
Loading…
Functional characterization of mismatch negativity to a visual stimulus
Maekawa, Toshihiko, Goto, Yoshinobu, Kinukawa, Naoko, Taniwaki, Takayuki, Kanba, Shigenobu, Tobimatsu, Shozo
Published in Clinical neurophysiology (01.10.2005)
Published in Clinical neurophysiology (01.10.2005)
Get full text
Journal Article
Loading…
Identification and functional characterization of HIV-associated neurocognitive disorders with large-scale Granger causality analysis on resting-state functional MRI
Chockanathan, Udaysankar, DSouza, Adora M, Abidin, Anas Z, Schifitto, Giovanni, Wismüller, Axel
Published in Proceedings of SPIE, the international society for optical engineering (01.02.2018)
Published in Proceedings of SPIE, the international society for optical engineering (01.02.2018)
Get full text
Journal Article
Loading…
Analysis and functional characterization of sequence variations in ligand binding domain of thyroid hormone receptors in autism spectrum disorder (ASD) patients
Kalikiri, Mahesh Kumar, Mamidala, Madhu Poornima, Rao, Ananth N, Rajesh, Vidya
Published in Autism research (01.12.2017)
Published in Autism research (01.12.2017)
Get more information
Journal Article
Loading…
Loading…
Insect Olfactory Proteins (From Gene Identification to Functional Characterization)
Year of Publication 2020
Get full text
eBook
Loading…
Loading…
Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia
Plengpanich, Wanee, Tongkobpetch, Siraprapa, Shotelersuk, Vorasuk, Le Goff, Wilfried, Khovidhunkit, Weerapan
Published in Clinica chimica acta (01.02.2013)
Published in Clinica chimica acta (01.02.2013)
Get full text
Journal Article
Loading…
Functional characterization of a common CYP4F11 genetic variant and identification of functionally defective CYP4F11 variants in erythromycin metabolism and 20-HETE synthesis
Yi, Myeongjin, Cho, Sun-Ah, Min, Jungki, Kim, Dong Hyun, Shin, Jae-Gook, Lee, Su-Jun
Published in Archives of biochemistry and biophysics (15.04.2017)
Published in Archives of biochemistry and biophysics (15.04.2017)
Get full text
Journal Article