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Items: 1 to 20 of 500

1.
A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia
Yiming Lin, Zhenzhu Zheng, Wenjia Sun, Qingliu Fu
BMC Med Genet. 2018; 19: 5. Published online 2018 Jan 5. doi: 10.1186/s12881-017-0517-1
PMCID:
PMC5755286
AbstractArticlePDF–1.3M
2.
Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia
Sarah L. Nickerson, Shanti Balasubramaniam, Philippa A. Dryland, Jennifer M. Love, Maina P. Kava, Donald R. Love, Debra O. Prosser
J Pediatr Genet. 2016 Sep; 5(3): 174–180. Published online 2016 Jun 15. doi: 10.1055/s-0036-1584358
PMCID:
PMC4999328
AbstractArticlePDF–411K
3.
Musculoskeletal manifestations of neonatal nonketotic hyperglycinemia
Norman Ramirez, John M. Flynn, Francisco Casalduc, Stephanie Rodriguez, Alberto S. Cornier, Simón Carlo
J Child Orthop. 2012 Jul; 6(3): 199–203. Published online 2012 May 25. doi: 10.1007/s11832-012-0407-1
PMCID:
PMC3400000
AbstractArticlePDF–231K
4.
Perioperative care of a child with non-ketotic hyperglycinemia
Joy Allee, Joseph D. Tobias
Saudi J Anaesth. 2010 Sep-Dec; 4(3): 197–201. doi: 10.4103/1658-354X.71578
PMCID:
PMC2980668
AbstractArticlePDF–466K
5.
大豆异黄酮通过抑制 Wnt/Ca2+信号通路减轻大鼠脑缺血再灌注引起的钙超载
李 丽, 汪 梦哲, 刘 赛赛, 张 小楠, 陈 洁, 陶 伟婷, 李 晒, 秦 志文, 陶 泉坊, 刘 奕, 黄 丽, 赵 士弟
Nan Fang Yi Ke Da Xue Xue Bao. 2024 Jun 20; 44(6): 1048–1058. Chinese. doi: 10.12122/j.issn.1673-4254.2024.06.05
PMCID:
PMC11237289
AbstractArticlePDF–6.8M
6.
Microbiome-derived bacterial lipids regulate gene expression of proinflammatory pathway inhibitors in systemic monocytes
Saki Mihori, Frank Nichols, Anthony Provatas, Alyssa Matz, Beiyan Zhou, Christopher N. Blesso, Hunter Panier, Lauren Daddi, Yanjiao Zhou, Robert B. Clark
Front Immunol. 2024; 15: 1415565. Published online 2024 Jun 26. doi: 10.3389/fimmu.2024.1415565
PMCID:
PMC11233717
AbstractArticlePDF–1.7M
7.
Preclinical safety assessment of modified gamma globin lentiviral vector-mediated autologous hematopoietic stem cell gene therapy for hemoglobinopathies
Mohammad Shadid, Archana Shrestha, Punam Malik
PLoS One. 2024; 19(7): e0306719. Published online 2024 Jul 8. doi: 10.1371/journal.pone.0306719
PMCID:
PMC11230569
AbstractArticlePDF–1.8M
8.
tRNA epitranscriptomic alterations associated with opioid-induced reward-seeking and long-term opioid withdrawal in male mice
Jennifer Blaze, Caleb J. Browne, Rita Futamura, Behnam Javidfar, Venetia Zachariou, Eric J. Nestler, Schahram Akbarian
Neuropsychopharmacology. 2024 Jul; 49(8): 1276–1284. Published online 2024 Feb 8. doi: 10.1038/s41386-024-01813-6
PMCID:
PMC11224224
AbstractArticlePDF–1.6M
9.
Elucidating the Role of Human ALAS2 C-terminal Mutations Resulting in Loss of Function and Disease
Jessica L. Taylor, Pedro H. Ayres-Galhardo, Breann L. Brown
Biochemistry. 2024 Jul 2; 63(13): 1636–1646. Published online 2024 Jun 18. doi: 10.1021/acs.biochem.4c00066
PMCID:
PMC11223264
AbstractArticlePDF–2.5M
10.
Comprehensive analysis of key host gene-microbe networks in the cecum tissues of the obese rabbits induced by a high-fat diet
Yanhong Li, Xiaolan Qi, Qinrong Wang, Yan He, Zhupeng Li, Xi Cen, Limin Wei
Front Cell Infect Microbiol. 2024; 14: 1407051. Published online 2024 Jun 14. doi: 10.3389/fcimb.2024.1407051
PMCID:
PMC11211605
AbstractArticlePDF–4.8M
11.
A comprehensive analysis of the WRKY family in soybean and functional analysis of GmWRKY164-GmGSL7c in resistance to soybean mosaic virus
Zhihua Zhao, Rongna Wang, Weihua Su, Tianjie Sun, Mengnan Qi, Xueyan Zhang, Fengju Wei, Zhouliang Yu, Fuming Xiao, Long Yan, Chunyan Yang, Jie Zhang, Dongmei Wang
BMC Genomics. 2024; 25: 620. Published online 2024 Jun 19. doi: 10.1186/s12864-024-10523-8
PMCID:
PMC11188170
AbstractArticlePDF–3.7M
12.
Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology
Oleg A. Shchelochkov, Cristan A. Farmer, Colby Chlebowski, Dee Adedipe, Susan Ferry, Irini Manoli, Alexandra Pass, Samantha McCoy, Carol Van Ryzin, Jennifer Sloan, Audrey Thurm, Charles P. Venditti
Mol Psychiatry. 2024; 29(4): 974–981. Published online 2024 Jan 11. doi: 10.1038/s41380-023-02385-5
PMCID:
PMC11176071
AbstractArticlePDF–1.0M
13.
Microbiome Taxonomic and Functional Differences in C3H/HeJ Mice Fed a Long-Term High-Fat Diet with Beef Protein ± Ammonium Hydroxide Supplementation
Emily C. Garrison, Amanda M. V. Brown, McKinlee M. Salazar, Benjamin Barr, Naima Moustaid-Moussa, Lauren S. Gollahon
Nutrients. 2024 Jun; 16(11): 1613. Published online 2024 May 25. doi: 10.3390/nu16111613
PMCID:
PMC11174526
AbstractArticlePDF–4.3M
14.
富含半胱氨酸和甘氨酸蛋白2在神经母细胞瘤恶性进展中的功能和机制
张 瑶, 郭 金鑫, 战 世佳, 洪 恩宇, 杨 慧, 贾 安娜, 常 艳, 郭 永丽, 张 璇
Beijing Da Xue Xue Bao Yi Xue Ban. 2024 Jun 18; 56(3): 495–504. Chinese. Published online 2024 Mar 12. doi: 10.19723/j.issn.1671-167X.2024.03.017
PMCID:
PMC11167550
AbstractArticlePDF–4.7M
15.
β‐Catenin mutations and nuclear accumulation during progression of rat stomach adenocarcinomas
Tetsuya Tsukamoto, Masami Yamamoto, Naotaka Ogasawara, Toshikazu Ushijima, Tomoko Nomoto, Hirofumi Fujita, Taijiro Matsushima, Koji Nozaki, Xueyuan Cao, Masae Tatematsu
Cancer Sci. 2003 Dec; 94(12): 1046–1051. Published online 2005 Aug 19. doi: 10.1111/j.1349-7006.2003.tb01399.x
PMCID:
PMC11160191
AbstractArticlePDF–3.1M
16.
Mycoplasma glycine cleavage system key subunit GcvH is an apoptosis inhibitor targeting host endoplasmic reticulum
Qiao Pan, Yujuan Zhang, Tong Liu, Qingyuan Xu, Qi Wu, Jiuqing Xin
PLoS Pathog. 2024 May; 20(5): e1012266. Published online 2024 May 24. doi: 10.1371/journal.ppat.1012266
PMCID:
PMC11156438
AbstractArticle
17.
L-serine deficiency: on the properties of the Asn133Ser variant of human phosphoserine phosphatase
Loredano Pollegioni, Barbara Campanini, Jean-Marc Good, Zoraide Motta, Giulia Murtas, Valeria Buoli Comani, Despina-Christina Pavlidou, Noëlle Mercier, Laureane Mittaz-Crettol, Silvia Sacchi, Francesco Marchesani
Sci Rep. 2024; 14: 12463. Published online 2024 May 30. doi: 10.1038/s41598-024-63164-y
PMCID:
PMC11139964
AbstractArticlePDF–3.1M
18.
A MYB‐related transcription factor regulates effector gene expression in an oomycete pathogen
Hui Qian, Long Lin, Zhichao Zhang, Xinyi Gu, Danyu Shen, Zhiyuan Yin, Wenwu Ye, Daolong Dou, Yuanchao Wang
Mol Plant Pathol. 2024 Jun; 25(6): e13468. Published online 2024 May 29. doi: 10.1111/mpp.13468
PMCID:
PMC11134190
AbstractArticlePDF–23M
19.
The soybean plasma membrane GmDR1 protein conferring broad-spectrum disease and pest resistance regulates several receptor kinases and NLR proteins
Micheline N. Ngaki, Subodh K. Srivastava, Wang Feifei, Madan K. Bhattacharyya
Sci Rep. 2024; 14: 12253. Published online 2024 May 28. doi: 10.1038/s41598-024-62332-4
PMCID:
PMC11133457
AbstractArticlePDF–1.4M
20.
Blood metabolites and chronic kidney disease: a Mendelian randomization study
Yawei Hou, Zhenwei Xiao, Yushuo Zhu, Yameng Li, Qinglin Liu, Zhenguo Wang
BMC Med Genomics. 2024; 17: 147. Published online 2024 May 28. doi: 10.1186/s12920-024-01918-3
PMCID:
PMC11131213
AbstractArticlePDF–2.3M

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