Results 251 to 260 of about 817,746 (315)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

A Robust DNA Isolation Protocol from Filtered Commercial Olive Oil for PCR-Based Fingerprinting. [PDF]

Foods, 2019
Piarulli L, Savoia MA, Taranto F, D'Agostino N, Sardaro R, Girone S, Gadaleta S, Fucili V, De Giovanni C, Montemurro C, Pasqualone A, Fanelli V.   +11 more
europepmc   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
Markers of neutrophil activation are increased in plasma during ALS, and markers of NET formation associate with ALS survival. ABSTRACT Objectives Peripheral neutrophil levels in amyotrophic lateral sclerosis (ALS) inversely correlate with survival, suggesting a role for neutrophils in disease progression.
Lillia A. Baird, Haley McQuown, Jihyun Park, Samuel J. Teener, Ian F. Webber‐Davis, Andrew D. Carter, Dae‐Gyu Jang, Eva L. Feldman, Stephen A. Goutman, Benjamin J. Murdock   +9 more
wiley   +1 more source

Mucocutaneous Disease Activity and Damage Accrual in Systemic Lupus Erythematosus: Analyses From the Asia‐Pacific Lupus Collaboration Longitudinal Cohort Study

Arthritis Care &Research, EarlyView.
Objective This research article aims to describe the prevalence, associations, and health‐related quality of life (HRQoL) impact of mucocutaneous features of systemic lupus erythematosus (SLE). Methods Data from the Asia‐Pacific Lupus Collaboration cohort were analyzed (2013–2021).
Amanda M. Saracino, Yanjie Hao, Dylan Hansen, Yi‐Hsing Chen, Alberta Hoi, Vera Golder, Jiacai Cho, Aisha Lateef, Worawit Louthrenoo, Laniyati Hamijoyo, Shue Fen Luo, Yeong‐Jian Jan Wu, Sandra Navarra, Leonid Zamora, Chak Sing Lau, Shirley Chan, Zhanguo Li, Hai‐hong Yao, Sargunan Sockalingam, B. M. D. B. Basnayake, Yasuhiro Katsumata, Masayoshi Harigai, Zhuoli Zhang, Jun Kikuchi, Yuko Kaneko, Tsutomu Takeuchi, Madelynn Chan, Sang‐Cheol Bae, Fiona Goldblatt, Sean O'Neill, Geraldine Hassett, Kristine Ng, Nicola Tugnet, Mark Sapsford, Yih Jia Poh, Michael Tee, Cherica Tee, Naoaki Ohkubo, Yoshiya Tanaka, Rangi Kandane‐Rathnayake, Eric Morand, Shereen Oon, Mandana Nikpour   +42 more
wiley   +1 more source

Cumulative Social Disadvantage and Disease Activity in Juvenile Idiopathic Arthritis: A Childhood Arthritis and Rheumatology Research Alliance Registry Study

Arthritis Care &Research, EarlyView.
Objective Social determinants of health (SDOH) contribute to juvenile idiopathic arthritis (JIA) disparities, but most studies have assessed SDOH independently rather than cumulatively across individual, family, and neighborhood levels. Using a socioecological framework, we investigated the relationship among cumulative social disadvantage ...
William Daniel Soulsby, John Boscardin, Andrea Knight, Daniel B. Horton, Karine Toupin‐April, Emily von Scheven, on behalf of the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry Investigators and for the CARRA Health Equity Work Group, R. Aamir, K. Abulaban, A. Adams, C. Aguiar Lapsia, H. Ahmed, S. Akoghlanian, A. AlBijadi, E. Allenspach, M. Alpizar, G. Amarilyo, M. Amoruso, S. Angeles‐Han, S. Ardoin, S. Armendariz, N. Aviran Dagan, I. Balboni, S. Balevic, S. Ballinger, S. Baluta, L. Barillas‐Arias, L. Barillas‐Arias, M. Basiaga, K. Baszis, M. Becker, A. Begezda, E. Beil, H. Bell‐Brunson, H. Benham, S. Benseler, L. Bermudez‐Santiago, W. Bernal, T. Bigley, C. Bingham, B. Binstadt, C. Black, B. Blackmon, M. Blakley, J. Bohnsack, A. Boneparth, H. Bradfield, J. Bridges, E. Brooks, M. Brothers, D. Brown, H. Brunner, L. Buckley, Mary Buckley, Meredith Buckley, H. Bukulmez, D. Bullock, A. Cancino, S. Canna, L. Cannon, S. Canny, V. Cartwright, E. Chalom, Johanna Chang, Joyce Chang, M. Chang, A. Chang‐Hoftman, A. Chen, P. Chiraseveenuprapund, K. Ciaglia, M. Cidon, D. Co, E. Cohen, R. Connor, K. Cook, A. Cooper, J. Cooper, K. Corbin, C. Correll, R. Cron, M. Curry, A. Dagci, A. Dalrymple, E. Datyner, T. Davis, D. De Ranieri, J. Dean, C. DeCoste, F. Dedeoglu, M. DeGuzman, N. Delnay, E. L. DeSantis, R. Devine, M. Dhalla, A. Dhanrajani, D. Dissanayake, B. Dizon, J. Drew, K. Driest, Q. Du, E. Duncan, K. Dunnock, D. Durkee, J. Dvergsten, A. Eberhard, K. Ede, B. Edelheit, C. Edens, M. Elder, Y. Elzaki, C. Failing, D. Fair, L. Favier, B. Feldman, J. Fennell, I. Ferguson, P. Ferguson, C. Figueroa, E. Flanagan, L. Fogel, E. Fox, M. Fox, L. Franklin, R. Fuhlbrigge, J. Fuller, T. Futch‐West, S. Gagne, M. Geiszler, D. Gerstbacher, M. Gilbert, A.C. Gironella, D. Glaser, I. Goh, S. Gorry, N. Goswami, B. Gottlieb, T. Graham, S. Grevich, T. Griffin, A. Grim, A. Grom, M. Guevara, L. Guzman, T. Hahn, O. Halyabar, E. Hammelev, T. Hammond, S. Haro, J. Harris, O. Harry, J. Hausmann, A. Hay, K. Hays, K. Hayward, L. Henderson, M. Henrickson, A. Hersh, L. Hiraki, M. Hiskey, P. Hobday, C. Hoffart, M. J. Holland, M. Hollander, S. Hong, D. Horton, J. Hsu, A. Huber, J. Huggins, J. Hui‐Yuen, M. Ibarra, A. Imlay, L. Imundo, C. Inman, A. Jackson, K. James, G. Janow, Y. Jiang, L. Johnson, N. Johnson, J. Jones, D. Kafisheh, K. Kaidar, S. Kasinathan, R. Kaur, E. Kessler, B. Kienzle, S. Kim, Y. Kimura, D. Kingsbury, M. Kitcharoensakkul, J. Klauss, K. Klein, M. Klein‐Gitelman, A. Knight, L. Kovalick, D. Krajewski, C. Kremer, T. LaFlam, B. Lang, S. Lapidus, B. Lapin, A. Lasky, E. Lawson, R. Laxer, A. Lee, Patricia Lee, Pui Lee, T. Lee, E. Leisinger, L. Lentini, M. Lerman, Y. Levinsky, D. Levy, S. Li, S. Lieberman, L. Lim, E. Limenis, C. Lin, N. Ling, G. Lionetti, R. Livny, M. Lo, A. Long, M. Lopez‐Peña, D. Lovell, S. Lvovich, A. Lytch, M. Ma, A. Machado, J. MacMahon, J. Madison, M. Mannion, C. Manos, L. Mansfield, B. Marston, K. Marzan, T. Mason, S. Matossian, L. McAllister, K. McBrearty, D. McCurdy, K. McDaniels, J. McDonald, L. McIntosh, E. Meidan, E. Mellins, Z. Mian, P. Miettunen, M. Miller, D. Milojevic, R. Mitacek, R. Modica, S. Mohan, K. Moore, T. Moore, L. Moorthy, J. Moreno, E. Morgan, A. Moyer, B. Murante, A. Murphy, E. Muscal, O. Mwizerwa, A. Najafi, K. Nanda, L. Nassi, S. Nativ, M. Natter, J. Neely, L. Newhall, A. Nuyen, P. Nigrovic, J. Nocton, B. Nolan, A. Nowakowski, K. Nowicki, R. Oakes, E. Oberle, S. Ogbonnaya‐Whittesley, E. Ogbu, M. Oliver, R. Olveda, K. Onel, A. Orandi, J. Padam, N. Pan, J. Pandya, S. Panupattanapong, A. Pappo Toledano, J. Patel, P. Patel, A. Patrick, S. Patrizi, S. Paul, J. Perfetto, M. Perron, M. Peskin, C. Pinotti, L. Ponder, R. Pooni, S. Prahalad, M. Quinlan‐Waters, J. Rafko, H. Rahimi, S. Ramsey, R. Randell, L. Ray, Ann Reed, Annelle Reed, H. Reid, D. Reiff, I. Reyhan, B. Richard, M. Riebschleger, E. Rife, M. Riskalla, A. Robinson, L. Robinson, L. Rodgers, M. Rodriquez, D. Rogers, T. Ronis, A. Rosado, M. Rosenkranz, N. Rosenwasser, H. Rothermel, D. Rothman, E. Rothschild, K. Rouster ‐ Stevens, T. Rubinstein, N. Ruth, S. Sabbagh, R. Sadun, L. Santiago, V. Saper, A. Sarkissian, L. Scalzi, J. Schahn, K. Schikler, A. Schlefman, B. Schlichting, H. Schmeling, E. Schmitt, G. Schulert, C. Schutt, C. Seper, B. Shaham, R. Sheets, A. Shehab, S. Shenoi, M. Sherman, J. Shirley, M. Shishov, N. Singer, V. Sivaraman, E. Sloan, C. Smith, J. Smith, E. Smitherman, J. Soep, M. B. Son, C. Spencer, L. Spiegel, J. Spitznagle, H. Srinivasalu, H. Stapp, A. Stephens, Y. Sterba Rakovchik, S. Stern, B. Stevens, R. Stevenson, C. Stingl, M. Stoll, E. Stringer, S. Sule, J. Sullivan, R. Sundel, M. Sutter, C. Swaffar, N. Swayne, T. Symington, G. Syverson, A.M. Szymanski, S. Taber, R. Tal, A. Tambralli, A. Taneja, T. Tanner, S. Tarvin, A. Taxter, M. Tesher, T. Thakurdeen, A. Theisen, G. Thieroff, B. Thomas, L. Thomas, N. Thomas, L. Timmerman, T. Ting, C. Todd, D. Toib, K. Torok, H. Tory, M. Toth, E. Treemarcki, S. Tse, T. Tse, C. Tsin, J. Twachtman‐Bassett, M. Twilt, T. Valcarcel, R. Valdovinos, A. Vallee, H. Van Mater, S. Vandenbergen, C. Varghese, N. Vasquez, P. Vega‐Fernandez, J. Verbsky, R. Verstegen, E. von Scheven, S. Vora, L. Wagner‐Weiner, D. Wahezi, S. Wakefield, B. Walker, S. Wallgren, H. Walters, M. Waterfield, J. Weiss, P. Weiss, E. Wershba, V. Westheuser, K. Widrick, C. Williams, S. Wong, S. Wooldridge, L. Woolnough, T. Wright, E. Wu, A. Yalcindag, R. Yeung, K. Yomogida, A. Zeft, Y. J. Zhang, Y. D. Zhao, Z. Zheng, A. Zhu, C. Zic   +448 more
wiley   +1 more source

Clinical, Histologic, and Serological Predictors of Renal Function Loss in Lupus Nephritis

Arthritis Care &Research, EarlyView.
Objective Kidney survival is the ultimate goal in lupus nephritis (LN) management, but long‐term predictors remain inadequately studied, requiring long‐term follow‐up. This study aimed to identify baseline and early longitudinal predictors of kidney survival in the Accelerating Medicines Partnership LN longitudinal cohort.
Shangzhu Zhang, Laurence Magder, Daniel Goldman, Judith A. James, Joel M. Guthridge, Carla Guthridge, Peter Izmirly, Jill P. Buyon, H. Michael Belmont, Richard A. Furie, Noa Schwartz, Chaim Putterman, Jennifer L. Barnas, Jennifer H. Anolik, Sarah French, Maria Dall'Era, Avi Z. Rosenberg, Jeffrey Hodgin, Dawit S. Demeke, the Accelerating Medicines Partnership Rheumatoid Arthritis and Systemic Lupus Erythematosus (RA/SLE) Network, Michelle Petri, Andrea Fava   +21 more
wiley   +1 more source