Results 231 to 240 of about 584,709 (292)

Transcriptome-Wide Identification of Neuropeptides and Neuropeptide Receptors in the Twenty-Eight-Spotted Ladybird <i>Henosepilachna vigintioctopunctata</i>. [PDF]

Insects
Lei Q, Wang Z, Yao S, Lin A, Zhang Y, Sun C, Liu X, Du M, Liu X, An S.   +9 more
europepmc   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

GPR75: Advances, Challenges in Deorphanization, and Potential as a Novel Drug Target for Disease Treatment. [PDF]

Int J Mol Sci
Han J, Li J, Yao S, Wei Z, Jiang H, Xu T, Zeng J, Xu L, Han Y.   +8 more
europepmc   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Downstream Signaling of Muscarinic M₄ Receptors Is Regulated by Receptor Density and Cellular Environment. [PDF]

Pharmacol Res Perspect
Merz M, Playle C, Palchaudhuri M, Hucke O, Gross U, Ursu D.   +5 more
europepmc   +1 more source

Plasma microRNA Signature as Predictive Marker of Clinical Response to Therapy During Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite the availability of effective therapies for Multiple Sclerosis (MS), the unpredictable nature of disease progression and the variability in individual treatment outcomes call for reliable biomarkers. This pilot study aims to investigate the potential of plasma circulating microRNAs (miRNAs) as predictive biomarkers for ...
Fortunata Carbone, Alessandra Colamatteo, Teresa Micillo, Gianmarco Abbadessa, Silvia Garavelli, Clorinda Fusco, Claudia Russo, Francesco Perna, Federica Garziano, Claudia La Rocca, Maria Mottola, Giorgia Teresa Maniscalco, Simona Bonavita, Antonio Luca Spiezia, Alessia Castiello, Roberta Lanzillo, Vincenzo Brescia Morra, Claudio Procaccini, Paola de Candia, Giuseppe Matarese   +19 more
wiley   +1 more source

Renal G protein-coupled estrogen receptor 1 regulates the epithelial sodium channel promoting natriuresis to a greater extent in females. [PDF]

Am J Physiol Renal Physiol
Nasci VL, Bopassa JC, Mironova E, Rhoads M, Singh R, Buehler DP, Pollock DM, Pochynyuk OM, Stockand JD, Gohar EY.   +9 more
europepmc   +1 more source

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa de Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann   +47 more
wiley   +1 more source

Structural insights into ligand recognition and G protein preferences across histamine receptors. [PDF]

Commun Biol
Matsuzaki Y, Sano FK, Oshima HS, Akasaka H, Kobayashi K, Tanaka T, Itoh Y, Shihoya W, Kise Y, Kusakizako T, Inoue A, Nureki O.   +11 more
europepmc   +1 more source

Performance of Composite Endpoints Defining Progression Independent of Relapse Activity in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The characteristics and utility of composite progression independent of relapse activity (cPIRA; worsening on the Expanded Disability Status Scale [EDSS], or 9‐Hole Peg Test, or Timed 25‐Foot Walk Test) were evaluated as an endpoint in relapsing multiple sclerosis (RMS) trials using the ENSEMBLE (NCT03085810) and pooled OPERA I/II ...
Ludwig Kappos, Sean Yiu, Jason Reucassel, Jiwon Oh, Cristina Granziera, Joep Killestein, Robert A. Bermel, Claude Berge, Agne Kazlauskaite, Hans‐Martin Schneble, Frank Dahlke, Bruce A. C. Cree   +11 more
wiley   +1 more source