Search Results - "Valencia, C Alexander"

Biparental Inheritance of Mitochondrial DNA in Humans by Luo, Shiyu, Valencia, C. Alexander, Zhang, Jinglan, Lee, Ni-Chung, Slone, Jesse, Gui, Baoheng, Wang, Xinjian, Li, Zhuo, Dell, Sarah, Brown, Jenice, Chen, Stella Maris, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Fan, Pi-Chuan, Wong, Lee-Jun, Atwal, Paldeep S., Huang, Taosheng

“…Although there has been considerable debate about whether paternal mitochondrial DNA (mtDNA) transmission may coexist with maternal transmission of mtDNA, it…”
Get full text

Zebrafish abcb11b mutant reveals strategies to restore bile excretion impaired by bile salt export pump deficiency by Ellis, Jillian L., Bove, Kevin E., Schuetz, Erin G., Leino, Daniel, Valencia, C. Alexander, Schuetz, John D., Miethke, Alexander, Yin, Chunyue

“…Bile salt export pump (BSEP) adenosine triphosphate–binding cassette B11 (ABCB11) is a liver‐specific ABC transporter that mediates canalicular bile salt…”
Get full text

Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel by Valencia, C Alexander, Ankala, Arunkanth, Rhodenizer, Devin, Bhide, Shruti, Littlejohn, Martin Robert, Keong, Lisa Mari, Rutkowski, Anne, Sparks, Susan, Bonnemann, Carsten, Hegde, Madhuri

“…The congenital muscular dystrophies (CMDs) comprise a heterogeneous group of heritable muscle disorders with often difficult to interpret muscle pathology,…”
Get full text

Factor IX alteration p.Arg338Gln (FIX Shanghai) potentiates FIX clotting activity and causes thrombosis by Wu, Wenman, Xiao, Lin, Wu, Xi, Xie, Xiaoling, Li, Ping, Chen, Changming, Zheng, Zhaoyue, Ai, Jiangang, Valencia, C. Alexander, Dong, Birong, Ding, Qiulan, Dong, Biao, Wang, Xuefeng

Get full text

Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cells by Nayak, Ramesh C, Trump, Lisa R, Aronow, Bruce J, Myers, Kasiani, Mehta, Parinda, Kalfa, Theodosia, Wellendorf, Ashley M, Valencia, C Alexander, Paddison, Patrick J, Horwitz, Marshall S, Grimes, H Leighton, Lutzko, Carolyn, Cancelas, Jose A

“…Severe congenital neutropenia (SCN) is often associated with inherited heterozygous point mutations in ELANE, which encodes neutrophil elastase (NE). However,…”
Get full text

Identification of glucocorticoid receptor in Drosophila melanogaster by Bartolo, Gloria, Gonzalez, Leandra O, Alameh, Saleem, Valencia, C Alexander, Martchenko Shilman, Mikhail

“…Vertebrate glucocorticoid receptor (GR) is an evolutionary-conserved cortisol-regulated nuclear receptor that controls key metabolic and developmental…”
Get full text

Centenarians Alleviate Inflammaging by Changing the Ratio and Secretory Phenotypes of T Helper 17 and Regulatory T Cells by Zhou, Lixing, Ge, Meiling, Zhang, Yan, Wu, Xiaochu, Leng, Mi, Gan, Chunmei, Mou, Yi, Zhou, Jiao, Valencia, C Alexander, Hao, Qiukui, Zhu, Bin, Dong, Biao, Dong, Birong

“…The immune system of centenarians remains active and young to prevent cancer and infections. Aging is associated with inflammaging, a persistent low-grade…”
Get full text

REPLY TO LUTZ-BONENGEL ET AL: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments by Luo, Shiyu, Valencia, C. Alexander, Zhang, Jinglan, Lee, Ni-Chung, Slone, Jesse, Gui, Baoheng, Wang, Xinjian, Li, Zhuo, Dell, Sarah, Brown, Jenice, Chen, Stella Maris, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Fan, Pi-Chuan, Wong, Lee-Jun, Atwal, Paldeep S., Huang, Taosheng

Get full text

A vaccine based on the yeast-expressed receptor-binding domain (RBD) elicits broad immune responses against SARS-CoV-2 variants by Liu, Yu, Zhao, Danhua, Wang, Yichang, Chen, Zhian, Yang, Li, Li, Wenjuan, Gong, Yanqiu, Gan, Chunmei, Tang, Jieshi, Zhang, Tizhong, Tang, Dan, Dong, Xiuju, Yang, Qingzhe, Valencia, C. Alexander, Dai, Lunzhi, Qi, Shiqian, Dong, Biao, Chow, Hoi Yee, Li, Yuhua

“…Development of safe and efficient vaccines is still necessary to deal with the COVID-19 pandemic. Herein, we reported that yeast-expressed recombinant RBD…”
Get full text

Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis by Palermo, Joseph J, Lin, Tom K, Hornung, Lindsey, Valencia, C Alexander, Mathur, Abhinav, Jackson, Kimberly, Fei, Lin, Abu-El-Haija, Maisam

“…The aim of this study was to determine if comprehensive genetic testing was useful to identify genetic variants that discriminate chronic pancreatitis (CP)…”
Get full text

Enhanced sensitivity of neutralizing antibody detection for different AAV serotypes using HeLa cells with overexpressed AAVR by Zheng, Zhaoyue, Ye, Jingya, Leng, Mi, Gan, Chunmei, Tang, Na, Li, Wei, Valencia, C Alexander, Dong, Biao, Chow, Hoi Yee

“…A cell-based transduction inhibition assay (TI) is widely used in clinical trials to detect neutralizing antibody (NAb) titers against recombinant…”
Get full text

Prevalence of abnormal glucose metabolism in pediatric acute, acute recurrent and chronic pancreatitis by Abu-El-Haija, Maisam, Hornung, Lindsey, Denson, Lee A, Husami, Ammar, Lin, Tom K, Matlock, Kristal, Nathan, Jaimie D, Palermo, Joseph J, Thompson, Tyler, Valencia, C Alexander, Wang, Xinjian, Woo, Jessica, Zhang, Keijan, Elder, Deborah

“…Type 3C Diabetes, or diseases of the exocrine pancreas has been reported to occur in approximately 30% of adult patient with pancreatitis. The incidence of…”
Get full text

Tribody: Robust Self-Assembled Trimeric Targeting Ligands with High Stability and Significantly Improved Target-Binding Strength by Kim, Dongwook, Kim, Sang Kyun, Alexander Valencia, C, Liu, Rihe

“…The C-terminal coiled-coil region of mouse and human cartilage matrix protein (CMP) self-assembles into a parallel trimeric complex. Here, we report a general…”
Get full text

Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism by Valencia, C Alexander, Wang, Xinjian, Wang, Jin, Peters, Anna, Simmons, Julia R, Moran, Molly C, Mathur, Abhinav, Husami, Ammar, Qian, Yaping, Sheridan, Rachel, Bove, Kevin E, Witte, David, Huang, Taosheng, Miethke, Alexander G

“…The etiology of acute liver failure (ALF) remains elusive in almost half of affected children. We hypothesized that inherited mitochondrial and fatty acid…”
Get full text

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience by Valencia, C Alexander, Husami, Ammar, Holle, Jennifer, Johnson, Judith A, Qian, Yaping, Mathur, Abhinav, Wei, Chao, Indugula, Subba Rao, Zou, Fanggeng, Meng, Haiying, Wang, Lijun, Li, Xia, Fisher, Rachel, Tan, Tony, Hogart Begtrup, Amber, Collins, Kathleen, Wusik, Katie A, Neilson, Derek, Burrow, Thomas, Schorry, Elizabeth, Hopkin, Robert, Keddache, Mehdi, Harley, John Barker, Kaufman, Kenneth M, Zhang, Kejian

“…There are limited reports of the use of whole exome sequencing (WES) as a clinical diagnostic tool. Moreover, there are no reports addressing the cost burden…”
Get full text

Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules by Leslie, Nancy, MD, Wang, Xinjian, PhD, Peng, Yanyan, MS, Valencia, C. Alexander, PhD, Khuchua, Zaza, PhD, Hata, Jessica, MD, Witte, David, MD, Huang, Taosheng, MD, PhD, Bove, Kevin E., MD

“…Summary Complex I deficiency causes Leigh syndrome, fatal infant lactic acidosis, and neonatal cardiomyopathy. Mutations in more than 100 nuclear DNA and…”
Get full text

Development of an Adeno-Associated Virus-Vectored SARS-CoV-2 Vaccine and Its Immunogenicity in Mice by Qin, Xi, Li, Shanhu, Li, Xiang, Pei, Dening, Liu, Yu, Ding, Youxue, Liu, Lan, Bi, Hua, Shi, Xinchang, Guo, Ying, Fang, Enyue, Huang, Fang, Yu, Lei, Zhu, Liuqiang, An, Yifang, Valencia, C Alexander, Li, Yuhua, Dong, Biao, Zhou, Yong

“…Owing to the outbreak of the novel coronavirus (SARS-CoV-2) worldwide at the end of 2019, the development of a SARS-CoV-2 vaccine became an urgent need. In…”
Get full text

Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte–Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn’s Disease by Denson, Lee A, Jurickova, Ingrid, Karns, Rebekah, Shaw, Kelly A, Cutler, David J, Okou, David, Valencia, C Alexander, Dodd, Anne, Mondal, Kajari, Aronow, Bruce J, Haberman, Yael, Linn, Aaron, Price, Adam, Bezold, Ramona, Lake, Kathleen, Jackson, Kimberly, Walters, Thomas D, Griffiths, Anne, Baldassano, Robert N, Noe, Joshua D, Hyams, Jeffrey S, Crandall, Wallace V, Kirschner, Barbara S, Heyman, Melvin B, Snapper, Scott, Guthery, Stephen L, Dubinsky, Marla C, Leleiko, Neal S, Otley, Anthony R, Xavier, Ramnik J, Stevens, Christine, Daly, Mark J, Zwick, Michael E, Kugathasan, Subra

“…Abstract Background Granulocyte–macrophage colony-stimulating factor auto-antibodies (GMAbs) suppress neutrophil-extrinsic GM-CSF signaling and increase risk…”
Get full text

Transfer of microRNAs by extracellular membrane microvesicles: a nascent crosstalk model in tumor pathogenesis, especially tumor cell-microenvironment interactions by Zhang, Li, Valencia, C Alexander, Dong, Biao, Chen, Meng, Guan, Pu-Jun, Pan, Ling

“…Anticancer treatments aiming at killing malignant cells have been applied for decades but have been unsuccessful at curing the disease. The modern concept of…”
Get full text

Scanning the Human Proteome for Calmodulin-Binding Proteins by Shen, Xinchun, Valencia, C. Alexander, Szostak, Jack, Dong, Biao, Liu, Rihe, Brown, Patrick O.

“…The calcium ion ( Ca2+) is a ubiquitous second messenger that is crucial for the regulation of a wide variety of cellular processes. The diverse transient…”
Get full text