Results 91 to 100 of about 3,299,410 (331)

Analysis of the regulation of undecaprenyl diphosphate dephosphorylation in Escherichia coli

FEBS Open Bio, EarlyView.
BacA, PgpB, and YbjG phosphatases are involved in undecaprenyl phosphate (C55P) synthesis in Escherichia coli. We analyzed the lipid contents and the gene expression in the gene‐disruption strains. Undecaprenyl diphosphate (C55PP) level increased in the bacA, ybjG double‐disruption strain, but C55P levels were similar in all strains.
Tomotaka Jitsukawa, Yasushi Shigeri, Shingo Fujisaki   +2 more
wiley   +1 more source

Mutation frequencies in endometrial cancer patients of different ethnicities and tumor grades: An analytical study

Saudi Journal of Medicine and Medical Sciences, 2019
Background: Endometrial carcinoma is a predominant health problem for women worldwide. However, there is a lack of data on genetic mutation frequencies in endometrial cancer patients of different ethnicities and tumor grades.
Mohammad A Althubiti
doaj   +1 more source

Tracking white matter degeneration in asymptomatic and symptomatic MAPT mutation carriers

Neurobiology of Aging, 2019
Our aim was to investigate the patterns and trajectories of white matter (WM) diffusion abnormalities in microtubule-associated protein tau (MAPT) mutations carriers. We studied 22 MAPT mutation carriers (12 asymptomatic, 10 symptomatic) and 20 noncarriers from 8 families, who underwent diffusion tensor imaging (DTI) and a subset (10 asymptomatic, 6 ...
Chen, Qin, Boeve, Bradley F, Schwarz, Christopher G, Reid, Robert, Tosakulwong, Nirubol, Lesnick, Timothy G, Bove, Jessica, Brannelly, Patrick, Brushaber, Danielle, Coppola, Giovanni, Dheel, Christina, Dickerson, Bradford C, Dickinson, Susan, Faber, Kelley, Fields, Julie, Fong, Jamie, Foroud, Tatiana, Forsberg, Leah, Gavrilova, Ralitza H, Gearhart, Debra, Ghoshal, Nupur, Goldman, Jill, Graff-Radford, Jonathan, Graff-Radford, Neill R, Grossman, Murray, Haley, Dana, Heuer, Hilary W, Hsiung, Ging-Yuek R, Huey, Edward, Irwin, David J, Jack, Clifford R, Jones, David T, Jones, Lynne, Karydas, Anna M, Knopman, David S, Kornak, John, Kramer, Joel, Kremers, Walter, Kukull, Walter A, Lapid, Maria, Lucente, Diane, Lungu, Codrin, Mackenzie, Ian RA, Manoochehri, Masood, McGinnis, Scott, Miller, Bruce L, Pearlman, Rodney, Petrucelli, Leonard, Potter, Madeline, Rademakers, Rosa, Ramos, Eliana M, Rankin, Katherine P, Rascovsky, Katya, Sengdy, Pheth, Shaw, Leslie, Syrjanen, Jeremy, Tatton, Nadine, Taylor, Joanne, Toga, Arthur W, Trojanowski, John, Weintraub, Sandra, Wong, Bonnie, Boxer, Adam L, Rosen, Howie, Wszolek, Zbigniew, Kantarci, Kejal, Consortium, LEFFTDS   +66 more
openaire   +6 more sources

Phenotypic plasticity in a novel set of EGFR tyrosine kinase inhibitor‐adapted non‐small cell lung cancer cell lines

FEBS Open Bio, EarlyView.
Phenotypic plasticity in a newly established set of EGFR inhibitor‐adapted NSCLC cell lines during adaptation and in established cell lines. Here, we introduce novel sublines of the EGFR‐mutant non‐small cell lung cancer (NSCLC) cell lines HCC827 and HCC4006 adapted to the EGFR kinase inhibitors gefitinib (HCC827rGEFI2μm, HCC4006rGEFI1μm), erlotinib ...
Tharsagini V. Nanthaprakash, Campbell W. Gourlay, Ina Oehme, Michelle D. Garrett, Jindrich Cinatl Jr, Mark N. Wass, Martin Michaelis   +6 more
wiley   +1 more source

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

Journal of musculoskeletal & neuronal interactions, 2007
Familial tumoral calcinosis is characterized by ectopic calcifications and hyperphosphatemia due to inactivating mutations in FGF23 or UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3).
S. Ichikawa, E. Imel, M. Kreiter, X. Yu, D. Mackenzie, A. H. Sorenson, R. Goetz, M. Mohammadi, K. White, M. Econs   +9 more
semanticscholar   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu, Wentao Chen, Yahong Wu, Zhen Guo, Jun Chen, Chen Tian, Pan Wang, Shaopeng Zeng, Bin Xu, Jing Duan, Shilong Han, Xiao Xiong, Jing Zhang   +12 more
wiley   +1 more source

Risks of Lynch syndrome cancers for MSH6 mutation carriers.

Journal of the National Cancer Institute, 2010
BACKGROUND Germline mutations in MSH6 account for 10%-20% of Lynch syndrome colorectal cancers caused by hereditary DNA mismatch repair gene mutations.
L. Baglietto, N. Lindor, J. Dowty, Darren M White, A. Wagner, E. G. Gómez Garcia, A. Vriends, Nicola Cartwright, R. Barnetson, S. Farrington, A. Tenesa, H. Hampel, D. Buchanan, S. Arnold, Joanne P Young, M. Walsh, J. Jass, F. Macrae, Y. Antill, I. Winship, G. Giles, J. Goldblatt, S. Parry, G. Suthers, B. Leggett, Malinda L. Butz, M. Aronson, J. Poynter, J. Baron, L. Le Marchand, R. Haile, S. Gallinger, J. Hopper, J. Potter, A. de la Chapelle, H. Vasen, M. Dunlop, S. Thibodeau, M. Jenkins   +38 more
semanticscholar   +1 more source

Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden, Charles Carron, Donatienne Van Weehaeghe, Joke De Vocht, Fouke Ombelet, Pegah Masrori, Caro De Weerdt, Rebecca E. James, Lauren T. Evans, Frederick A. Schroeder, Jacob M. Hooker, Michel Koole, Janice E. Kranz, Tonya M. Gilbert, Philip Van Damme, Koen Van Laere   +15 more
wiley   +1 more source