Results 181 to 190 of about 3,638,393 (283)

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Black Sea picocyanobacteria exploit ancestral traits for energy and chlorophyll production in dark anoxia. [PDF]

ISME Commun
Bartosiewicz M, Cabello-Yeves PJ, Eckert EM, Di Cesare A, Puxty RJ, Przytulska A, Osterholz H, Meibom A, Escrig S, Dzhembekova N, Zopfi J, Lehmann MF, Callieri C.   +12 more
europepmc   +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

Trait modeling to predict benthic functions and vulnerabilities across black sea seascapes. [PDF]

Sci Rep
Chevalier S, Beauchard O, Vandenbulcke L, Teaca A, Begun T, Todorova V, Soetaert K, Grégoire M.   +7 more
europepmc   +1 more source

Associations of Rheumatoid Arthritis Disease Activity With Frailty Over Five Years of Follow‐up

Arthritis Care &Research, EarlyView.
Objective To evaluate whether rheumatoid arthritis (RA) disease activity is associated with frailty both in cross‐section and longitudinally. Methods Participants within the Veterans Affairs Rheumatoid Arthritis (VARA) registry enrolled from 2003 to 2022 were included.
Courtney N. Loecker, Yangyuna Yang, Punyasha Roul, Aaron Baraff, Myra S. Schmaderer, Lani Zimmerman, Kaleb Michaud, Namrata Singh, Grant W. Cannon, Gary Kunkel, Ted R. Mikuls, Ariela R. Orkaby, Joshua F. Baker, Bryant R. England, Katherine D. Wysham   +14 more
wiley   +1 more source

Genetic characterization and meta-analysis of the population of the Northern Black Sea region in the 1st millennium CE based on ancient DNA data. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Aituganova ED, Kon'kov AS, Andreeva TV, Rozhdestvenskikh EV, Manakhov AD, Rogaev EI.   +5 more
europepmc   +1 more source

Real‐World Longitudinal Data on the Impact of Hydroxychloroquine Blood Level Monitoring on Lupus Outcomes: Results of a Prospective Longitudinal Cohort Study

Arthritis Care &Research, EarlyView.
Objective Hydroxychloroquine (HCQ) is a cornerstone therapy in systemic lupus erythematosus (SLE), but the weight‐based dosing does not account for clinical factors that can introduce individual variability in drug metabolism and clearance. We leveraged longitudinal data from a prospective SLE cohort to identify clinical factors that predict ...
Jay J. Patel, Fauzia Hollangel, Caroline Packee, Amita Kapoor, Brad Rovin, Nathalie Costedoat‐Chalumeau, Shivani Garg   +6 more
wiley   +1 more source

Real-World Diagnostic and Therapeutic Insights in Transthyretin Cardiac Amyloidosis: Experience from the Black Sea Region of Türkiye. [PDF]

Balkan Med J
Dereli S, Şeker OO, Bahadır N.
europepmc   +1 more source

The Association of Physical Function With Psychosocial Patient‐Reported Outcomes in People With Systemic Lupus Erythematosus

Arthritis Care &Research, EarlyView.
Objective To evaluate how modifiable psychosocial factors and fatigue relate to physical functioning in patients with systemic lupus erythematosus (SLE). Methods In this cross‐sectional study of two demographically distinct cohorts (Approaches to Positive, Patient‐Centered Experiences of Aging with Lupus [APPEAL] and California Lupus Epidemiology Study
Mrinalini Dey, Jessica Fitzpatrick, Maria Dall'Era, Charmayne Dunlop‐Thomas, Courtney Hoge, S. Sam Lim, Patricia P. Katz, Jinoos Yazdany, Laura C. Plantinga   +8 more
wiley   +1 more source

Multi-year evaluation of silage yield, quality, and stability of maize (Zea mays L.) genotypes in the central Black Sea region of Türkiye. [PDF]

Sci Rep
Özata E, Yıldırım GH, Alaca B.
europepmc   +1 more source