Results 281 to 290 of about 1,051,148 (367)

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Genome-wide association study of direct oral anticoagulants and their relation to bleeding. [PDF]

Eur J Clin Pharmacol
Attelind S, Eriksson N, Wadelius M, Hallberg P.   +3 more
europepmc   +1 more source

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang, Kang‐Yang Jih, Cheng‐Tsung Hsiao, Fu‐Pang Chang, Justus Chunyu Chen, Yi‐Chu Liao, Yih‐Ru Wu, Yi‐Chung Lee   +7 more
wiley   +1 more source

Psychiatric genome-wide association study enrichment shows promise for future psychopharmaceutical discoveries. [PDF]

Commun Med (Lond)
Hatoum AS, Gorelik AJ, Blaydon L, Huggett SB, Chi T, Baranger DAA, Miller AP, Johnson EC, Agrawal A, Bogdan R.   +9 more
europepmc   +1 more source

Hyperoxia Induced Alteration of Chromatin Structure in Human Bone Marrow Derived Primary Mesenchymal Stromal Cells

Advanced Biology, EarlyView.
Chromatin, which organizes DNA, changes its structure to adapt to stress like high oxygen levels (hyperoxia), which can damage cells. Researchers developed a technique to observe these changes and found variability in how different parts of chromatin remodel.
Lauren Monroe, Samantha Kaonis, Natalie Calahan, Neda Kabi, Soham Ghosh   +4 more
wiley   +1 more source

Genome-wide association study reveals significant loci and candidate genes for fruit branch length in upland cotton. [PDF]

Plant Genome
Chang H, Ji H, Liu R, Feng J, Wang J, Zhao S, Li W, Qiu Z, Elsheery NI, Yu S, Li L, Feng Z.   +11 more
europepmc   +1 more source

Genome-wide association study of post-traumatic stress disorder reexperiencing symptoms in >165,000 US veterans

Nature Neuroscience, 2019
J. Gelernter, Ning Sun, R. Polimanti, R. Pietrzak, D. Levey, J. Bryois, Q. Lu, Yiming Hu, Boyang Li, K. Radhakrishnan, M. Aslan, K. Cheung, Yuli Li, N. Rajeevan, F. Sayward, K. Harrington, Quan Chen, Kelly Cho, S. Pyarajan, P. Sullivan, Rachel M Quaden, Yunling Shi, Haley Hunter-Zinck, J. Gaziano, J. Concato, Hongyu Zhao, M. Stein, Department of Veterans Affairs Cooperative Studies Program an Program   +27 more
semanticscholar   +1 more source

Activation of NF‐κB Signaling by Optogenetic Clustering of IKKα and β

Advanced Biology, EarlyView.
This study presents an optogenetic approach for graded clustering of eGFP‐fused proteins using an eGFP‐specific nanobody and engineered Cryptochrome 2 variants. The method enables potent, reversible activation of NF‐κB signaling via endogenous pathways, as confirmed by RNA sequencing. This versatile system provides a spatially and temporally controlled
Alexandra Anna Maria Fischer, Markus Michael Kramer, Miguel Baños, Merlin Moritz Grimm, Manfred Fliegauf, Bodo Grimbacher, Gerald Radziwill, Sven Rahmann, Wilfried Weber   +8 more
wiley   +1 more source

Genome-Wide Association Study to Identify Soybean Lodging Resistance Loci and Candidate Genes. [PDF]

Int J Mol Sci
Liang Z, Qi N, Li R, Gao R, Huang J, Zhao W, Zhang H, Wang H, Ao X, Yao X, Xie F.   +10 more
europepmc   +1 more source

Retrotransposon Expression Is Upregulated in Adulthood and Suppressed during Regeneration of the Limb in the Axolotl (Ambystoma mexicanum)

Advanced Biology, EarlyView.
The axolotl's remarkable regenerative abilities decline with age, the causes may include the numerous repetitive elements within its genome. This study uncovers how Ty3 retrotransposons and coexpression networks involving muscle and immune pathways respond to aging and regeneration, suggesting that transposons respond to physiological shifts and may ...
Samuel Ruiz‐Pérez, Nicolás Alcaraz, Karla Torres‐Arciga, José Antonio Ocampo‐Cervantes, Alejandra Cervera, Clementina Castro‐Hernández, Cynthia Gabriela Sámano‐Salazar, Ernesto Soto‐Reyes, Rodrigo González‐Barrios   +8 more
wiley   +1 more source