Results 91 to 100 of about 17,668 (251)

Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells. [PDF]

, 2016
Urea cycle disorders are incurable enzymopathies that affect nitrogen metabolism and typically lead to hyperammonemia. Arginase deficiency results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in ...
Angarita, Stephanie Ak, Byrne, James A, Cederbaum, Stephen D, Chang, Katherine M, Gilmore, W Blake, Hermann, Kip, Lam, Alex K, Lee, Patrick C, Lipshutz, Gerald S, Pyle, April D, Schoenberg, Benjamen E, Tang, Jonathan K, Truong, Brian, Vega-Crespo, Agustin, Wininger, Austin E   +14 more
core   +3 more sources

Trans‐QTL Alliance of HKT1 and PHL7 Modulate Salinity Stress Tolerance and Enhance Crop Yield Endurance

Plant Biotechnology Journal, EarlyView.
ABSTRACT Salinity stress can cause significant yield losses in crops because of its major impact on reproductive success. The complexity of salinity stress responses, particularly their tissue‐ and cell‐specific regulation, continues to challenge the translation of molecular insights into tangible crop yield improvements.
Jitendra K. Mohanty, Antima Yadav, Laxmi Narnoliya, Virevol Thakro, Deepanshi Rathore, Shailesh Tripathi, Senjuti Sinharoy, Pinky Agarwal, Swarup K. Parida   +8 more
wiley   +1 more source

Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals

Molecular Genetics and Metabolism Reports, 2017
Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments.
J. Pérez-López, L. Ceberio-Hualde, J.S. García-Morillo, J.M. Grau-Junyent, A. Hermida Ameijeiras, M. López-Rodríguez, J.C. Milisenda, M. Moltó Abad, M. Morales-Conejo, J.J. Nava Mateos   +9 more
doaj   +1 more source

The Diversity of the DNA‐Binding Landscape in the DREB/ERF Family: Focusing on Reproductive Processes in Fruit Trees With Highly Heterozygous Genome

Plant Biotechnology Journal, EarlyView.
ABSTRACT DREB/ERF transcription factors play pivotal roles in plant development; however, their structural characteristics, DNA‐binding preferences, and functional roles in highly heterozygous woody plants remain insufficiently understood. Using lychee (Litchi chinensis) as a model, we identified 95 DREB/ERF genes subdivided into ten phylogenetic ...
Fengqi Wu, Jiakun Zheng, Huimin Hu, Hongsen Liu, Yaxuan Xiao, Junting Feng, Yanwei Hao, Chengjie Chen, Rui Xia, Zaohai Zeng   +9 more
wiley   +1 more source

Natural Variation in TaFAD8‐D Promoter Enhances Thermotolerance in Wheat Through Fatty Acid and Lipid Remodelling

Plant Biotechnology Journal, EarlyView.
ABSTRACT Heat stress (HS) has become an increasing threat to wheat productivity under global warming. However, the genetic loci for thermotolerance and the underlying molecular mechanisms remain largely unknown. In this study, genetic mapping identified a thermotolerance locus, QMpe.cau‐2D, encoding fatty acid desaturase 8 (FAD8), with the transposable
Hongjian Yu, Tianyu Lan, Weiwei Mao, Yongfa Wang, Xiaoyu Zhang, Mengsi Ma, Shuo Chen, Guang Chen, Qiang Li, Zhaorong Hu, Mingming Xin, Yingyin Yao, Weilong Guo, Zhongfu Ni, Qixin Sun, Huiru Peng   +15 more
wiley   +1 more source

A multiplexed LC-MS/MS assay for comprehensive screening of amino acid metabolism disorders

Talanta Open
Advancements in liquid chromatography-tandem mass spectrometry (LC-MS/MS) are redefining the landscape of clinical diagnostics, particularly in the context of newborn screening for inborn errors of metabolism.
Jisha Chandran, Madan Gopal Ramarajan, Vykuntaraju Kammasandra Nanjundagowda, Aruna Gowdra, Jayesh Warade, Anikha Bellad, Kannan Rangiah   +6 more
doaj   +1 more source

Progeny, December 2003, Vol. 19, no. 4 [PDF]

, 2003
This newsletter from The Department of Public Health about perinatal health care and ...

core  

Genetic Determinants and Breeding Strategies for Rice Cooking and Eating Quality: A Comprehensive Review

Plant Biotechnology Journal, EarlyView.
ABSTRACT Rice cooking and eating quality (CEQ), a core agronomic trait tied to consumer preference and market value, is regulated by endosperm starch, protein, and lipid metabolism; this review synthesizes advances in its molecular mechanisms, focusing on genetic determinants and regulatory networks of storage substances.
Guangming Lou, Pei Fu, Haozhou Gao, Minqi Li, Huan Shi, Rongjia Liu, Yanhua Li, Hao Zhou, Duo Xia, Yuexing Wang, Guanjun Gao, Yuqing He   +11 more
wiley   +1 more source

Newborn Urinary Metabolic Signatures of Prematurity and Other Disorders: A Case Control Study [PDF]

, 2001
This work assesses the urinary metabolite signature of prematurity in newborns by nuclear magnetic resonance (NMR) spectroscopy, while establishing the role of possible confounders and signature specificity, through comparison to other disorders.
Sílvia O. Diaz, Joana Pinto, António S. Barros, Elisabete Morais, Daniela Duarte, Fátima Negrão, Cristina Pita, Maria do Céu Almeida, Isabel M. Carreira, Manfred Spraul, Ana M. Gil, Pinto J., Benjamini Y., Morelli L.   +13 more
core   +1 more source

Transcriptional Regulation of SWEET15_A01 by MYB44/bHLH3 Modulates Carbon Allocation in Cotton Ovule and Fibre to Affect Seed and Fibre Traits

Plant Biotechnology Journal, EarlyView.
ABSTRACT The allocation of carbon sources between cotton ovule and fibre significantly influences the yield and quality of seed and fibre. SWEET15 (Sugars Will Eventually be Exported Transporter 15) plays a key role in sucrose transport; however, the transcriptional regulation of SWEET15 in cotton remains unclear.
Yu Le, Meilin Chen, De Zhu, Zhiyong Xu, Chao Fu, Xinhui Xiong, Yuanxue Li, Ningyu Yang, Liuyang Hui, Xianlong Zhang, Zhongxu Lin   +10 more
wiley   +1 more source