Results 51 to 60 of about 156,383 (305)

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Haplotypes descriptors. [PDF]

, 2015
Total haplotypes (N° H) and unique haplotypes (N° UH) as a function of spawning intensity (A) Frequency. (B) Proportion of.
Jordi Viñas (190096), Nuria Sanz (497802), Ana Gordoa (460753)   +2 more
core   +1 more source

Harnessing γ-TMT Genetic Variations and Haplotypes for Vitamin E Diversity in the Korean Rice Collection

Antioxidants
Gamma-tocopherol methyltransferase (γ-TMT), a key gene in the vitamin E biosynthesis pathway, significantly influences the accumulation of tocochromanols, thereby determining rice nutritional quality.
Aueangporn Somsri, Sang-Ho Chu, Bhagwat Nawade, Chang-Yong Lee, Yong-Jin Park   +4 more
doaj   +1 more source

The mitochondrial DNA HVI and HVII sequences and haplogroup distribution in a population sample from Vietnam

Annals of Human Biology, 2022
Background Mitochondrial DNA (mtDNA) analysis has been used in forensics and requires well-established population databases for statistical interpretations. However, high-quality mtDNA data from Vietnamese population samples have been limited.
Nam Ngoc Nguyen, Trong Luc Hoang, Trang Hong Nguyen, Phuong Thi Le, Chi Hung Nguyen, Viet Vinh Tran, Hoang Ha Chu, Ha Hoang   +7 more
doaj   +1 more source

Immune Checkpoint Inhibitor–Related Myositis and Associated Triad Overlap Syndrome

Arthritis Care &Research, EarlyView.
Objective Immune checkpoint inhibitor (ICI) myositis is a rare but a highly morbid condition, particularly with the ICI myositis triad syndrome of myositis, myocarditis, and myasthenia gravis. We report the clinical characteristics of ICI myositis and all‐cause mortality in these patients.
Selene Rubino, Grant W. Cannon, Brian C. Sauer, Jorge Rojas, Gregory J. Stoddard, Gary A. Kunkel, Jessica A. Walsh, Bryant R. England, Joshua F. Baker, Tawnie J. Braaten   +9 more
wiley   +1 more source

Negotiating in a Foreign Land: Understanding the Curious Interactions Between Intracellular Mitochondria and Internalized Nanoparticles

Advanced Materials Interfaces, EarlyView.
Therapeutic nano‐drug delivery systems interact with cellular mitochondria in a multitude of ways. While the complexity of such interactions disrupts the mitochondrial electron transport chain and increases reactive oxygen species production, thereby contributing to nanoparticle toxicity, they also present unique theranostic opportunities in diseases ...
Sourav Bhattacharjee
wiley   +1 more source

Origin and Distribution of the VRN-A1 Exon 4 and Exon 7 Haplotypes in Domesticated Wheat Species

Agronomy, 2018
The high adaptive potential of modern wheat to a wide range of environmental conditions is determined by genetic changes during domestication. Genetic diversity in VRN1 genes is a key contributor to this adaptability.
Alexandr Muterko, Elena Salina
doaj   +1 more source

A Rare Allele of ST5 From Wild Rice Enhances Salt Tolerance in Rice

Advanced Science, EarlyView.
A novel salt‐tolerance gene ST5W, characterized by a unique 36‐bp promoter insertion, is found exclusively in a small subset of Oryza rufipogon and is absent in cultivated rice. Field trials confirm ST5W significantly enhances rice yield across diverse genetic backgrounds under saline conditions.
Meng Xing, Jingfen Huang, Qiaoling Yuan, Ziyi Yang, Yanyan Wang, Mingchao Zhao, Yamin Nie, Rui Xu, Hongge Qian, Wenxi Chen, Qiaoling Zhang, Qi Du, Leiyue Geng, Yapeng Li, Ziyi Chen, Shizhuang Wang, Like Lou, Haiyuan Peng, Chongke Zheng, Xianzhi Xie, Xiaoming Zheng, Lifang Zhang, Lianguang Shang, Jiaqiang Sun, Qian Qian, Qingwen Yang, Weihua Qiao   +26 more
wiley   +1 more source

Polymorphisms in the WNK1 gene are associated with blood pressure variation and urinary potassium excretion [PDF]

, 2009
WNK1 - a serine/threonine kinase involved in electrolyte homeostasis and blood pressure (BP) control - is an excellent candidate gene for essential hypertension (EH). We and others have previously reported association between WNK1 and BP variation. Using
Kumari, Meena, Hoti, Mimoza, Samani, NJ, Peeter Juhanson, Elliott Paul, C. Ji (7611359), M. Marmot (7611368), Anna F Dominiczak, Juhanson, P, Marmot, Michael, Connell, JM, Philip Howard, Shaw Hawkins, Sue, Kumari Meena, P. B. Munroe (7602386), J. Chambers (3846385), Veldre, G, Farrall, Martin, Connell John M., Pasquale Strazzullo, John Chambers, Marmot Michael, Dobson, R, Kumari, M, Burke, Beverley, Samani Nilesh J., Brown, M. J. (Morris Jonathan), Morris Brown, Newhouse, Stephen; id_orcid, Elliott, Paul, Gudrun Veldre, Shaw-Hawkins, Sue, B. Burke (7611347), Strazzullo, P, Dobson, Richard; id_orcid, R. Collins (7159586), Iacone, Roberto, Cappuccio, Francesco P., Laan, Maris, Lathrop, G. Mark, Kooner, Jaspal, Munroe, Patricia B., Clarke, R, Beverley Burke, Brunner, Eric, P. Strazzullo (7611365), Farrall Martin, Viigimaa Margus, Brown, M, Lee, Kate, Hoti, M, Samani, Nilesh J., Francesco P Cappuccio, Newhouse Stephen, P. Howard (7611350), Richard Dobson, S. Newhouse (6642536), Juhanson Peeter, Elliott, P, Org, E, Nilesh J. Samani (7579793), Farrall, M, Burke Beverley, Lathrop G. Mark, Paul Elliott, Newhouse, S, Veldre, Gudrun, E. Org (7602644), Wallace Chris, Burke, B, Caulfield, Mark, Chambers, John, Marmot, Michael G., Martin Farrall, John M Connell, Onipinla Abiodun, Hoti Mimoza, M. Laan (7602659), Maris Laan, Dominiczak, AF, J. M. Connell (7602551), M. Viigimaa (7602620), Cappuccio Francesco P., Cappuccio, FP, Newhouse, Stephen, Onipinla, A, Kate Lee, Shaw-Hawkins Sue, Susana Eyheramendy, Iacone Roberto, Marmot, M, C. Wallace (7602467), Munroe, PB, Brown, Morris, Jaspal Kooner, Wallace, C, M. Farrall (6522599), Dominiczak Anna F., S. Eyheramendy (7611197), Roberto Iacone, Caulfield, M, Eric Brunner, Lee, K, Chris Wallace, Strazzullo Pasquale, Brunner Eric, M. Brown (3020991), G. M. Lathrop (7611353), Collins Rory, G Mark Lathrop, Juhanson, Peeter, Ji Chen, Meena Kumari, Howard Philip, Cappuccio, Francesco, Chambers, John, MD, Org, Elin, Caulfield Mark, K. Lee (1769563), E. Brunner (7611371), Lathrop, GM, S. Shaw-Hawkins (7602380), Org Elin, Chambers John, Iacone, R, Brunner, E, Margus Viigimaa, F. P. Cappuccio (7611356), Wallace, Chris, P. Elliott (1293702), Viigimaa, Margus, R. Dobson (6375266), A. F. Dominiczak (7602482), Chen Ji, Connell, John M., Connell, J. M. C., Sue Shaw-Hawkins, Dobson, Richard, Munroe Patricia B., Clarke, Robert, Eyheramendy, S, Rory Collins, Patricia B Munroe, Howard, P, M. Caulfield (7609097), Eyheramendy, Susana, Collins, Rory, Dobson Richard, Veldre Gudrun, Mimoza Hoti, Stephen Newhouse, Collins, R, M. Hoti (7611344), Laan Maris, Elin Org, Robert Clarke, Ji, C, Viigimaa, M, Shaw-Hawkins, S, Onipinla, Abiodun, Michael Marmot, Dominiczak, A. F., Mark Caulfield, R. Iacone (7611362), Abiodun Onipinla, G. Veldre (7602656), Clarke Robert, Eyheramendy Susana, A. Onipinla (7602377), M. Kumari (7602503), Kooner Jaspal, P. Juhanson (7602641), Nilesh J Samani, Dominiczak, Anna F., Lee Kate, Chambers, J, Strazzullo, Pasquale, Howard, Philip, Ji, Chen, Kooner, J, Brown Morris, J. Kooner (7609340), R. Clarke (7602407), Laan, M   +183 more
core   +1 more source

The dystrophinopathies in Costa Rica

Revista de Biología Tropical, 2004
A five-years long study aiming to describe the basic genetic epidemiology of the dystrophinopathies in Costa Rica recruited 31 patients with clinical symptoms of DMD/BMD at the National Children’s Hospital (HNN).
Jorge Azofeifa
doaj