Results 131 to 140 of about 374,945 (254)

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Inferring cancer type-specific patterns of metastatic spread using Metient. [PDF]

Nat Methods
Koyyalagunta D, Ganesh K, Morris Q.
europepmc   +1 more source

White Matter and Perivascular Imaging Changes in Alzheimer's Disease and Cerebral Amyloid Angiopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peak‐width of skeletonized mean diffusivity (PSMD) and diffusion tensor imaging–analysis along the perivascular space (DTI‐ALPS), reflecting white matter integrity and glymphatic function, are altered in Alzheimer's disease (AD).
Debina Laishram, Guangwei Du, Sangam Kanekar, Nandakumar Nagaraja   +3 more
wiley   +1 more source

Host-transposon mutualism supports regeneration in planarians. [PDF]

Dev Cell
Lee HL, Poulet A, Allikka Parambil S, van Wolfswinkel JC.   +3 more
europepmc   +1 more source

Vps13-like proteins provide phosphatidylethanolamine for GPI anchor synthesis in the ER. [PDF]

J Cell Biol, 2022
Toulmay A, Whittle FB, Yang J, Bai X, Diarra J, Banerjee S, Levine TP, Golden A, Prinz WA.   +8 more
europepmc   +1 more source

Octagonal prime graceful labeling

Ratio Mathematica
Let G be a graph with p vertices and q edges. Define a bijection f : V (G) → {1, 8, ..., p(3p - 2)} by f(vi) = i(3i - 2) for every i from 1 to p and define a 1 - 1 mapping fopgl ∗ : E(G) → set of natural number N such that f∗(uv) = |f(u) - f(v)| for all edges (uv) ∈ E(G).The induced function f is said to be octagonal prime graceful labeling if the gcin
openaire   +2 more sources

Employment Trajectories of Patients With Systemic Lupus Erythematosus and Factors Driving Transitions Between States

Arthritis Care &Research, EarlyView.
Objective Systemic lupus erythematosus (SLE) significantly impacts employment capacity. This study aimed to investigate the impact of burden of disease activity, damage, and treatment on employment outcomes and transitions in patients with SLE. Methods Using data from a single center, we analyzed employment transitions, adjusted mean disease activity ...
Javier Mencia‐Ledo, Zahi Touma, Laura Whittall Garcia, Dafna D. Gladman, Behdin Nowrouzi‐Kia   +4 more
wiley   +1 more source

Correlation Analyses Reveal a Limited Role of Transcription in Genome-Wide Differential MicroRNA Expression in Mammals. [PDF]

Front Genet, 2018
Zhang X, Hu S, Su J, Xie Z, Li W, Zeng Y.   +5 more
europepmc   +1 more source

Spot It! and balanced block designs: keys to better debate architecture for a plethora of candidates in presidential primaries? [PDF]

J Appl Stat, 2023
Potthoff RF.
europepmc   +1 more source