Results 201 to 210 of about 35,482 (247)

Mechanical sensitization of sensory afferents after passive transfer of fibromyalgia IgG

The Journal of Physiology, EarlyView.
Abstract figure legend In addition to widespread pain and fatigue, people with fibromyalgia (FM) experience sensory abnormalities and report lingering, painful sensations after touch or mechanical probing of the skin. Administration of IgG purified from FM patients to mice transfers symptoms and signs of FM.
Mathilde R. Israel, Nisha Vastani, Clive Gentry, Andreas Goebel, Stuart Bevan, David A. Andersson   +5 more
wiley   +1 more source

Experimental models of cerebral small vessel disease: Physiological constraints, translational challenges and future directions

The Journal of Physiology, EarlyView.
Abstract figure legend Overview of cerebral small vessel disease (cSVD) pathophysiology and current modelling challenges. Left: clinical burden and key unresolved research questions. Right: neurovascular unit (NVU) architecture highlighting sites of cSVD pathology across arterioles, capillaries and venules, including interactions between endothelial ...
Sophie Beaumont, Tanya Singh, Luana Campos Soares, Mootaz M. Salman   +3 more
wiley   +1 more source

Translating cardiovascular ion channel and Ca2+ signalling mechanisms into therapeutic insights

The Journal of Physiology, EarlyView.
Abstract figure legend This white paper integrates mechanistic discoveries across ion channel biology, Ca2+ signalling and multiscale cardiovascular physiology to highlight new opportunities for accelerating research and guiding next‐generation therapies. Printed with permission from ®Anita Impagliazzo Medical Illustration. [Correction added on 2 March
Silvia Marchianò, Miguel Martín‐Aragón Baudel, Charlotte E. R. Smith, Gonzalo Hernandez Hernandez, Donald M. Bers, Patrick M. Boyle, Dobromir Dobrev, Shanna Hamilton, Osama F. Harraz, Na Li, Thomas A. Longden, William E. Louch, Madeline Nieves‐Cintron, Matthew A. Nystoriak, Walter Lee Murfee, Przemysław B. Radwański, Swapnil K. Sonkusare, Manuel F. Navedo, Eleonora Grandi   +18 more
wiley   +1 more source

Pathomechanism of Fever‐Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC—Observations In Vitro and In Vivo

Liver International, Volume 46, Issue 8, August 2026.
ABSTRACT Background and Aims Pathogenic variants in neuroblastoma amplified sequence (NBAS) gene causes infantile liver failure type 2 (IFLS2; MIM 616483), characterised by recurrent episodes of liver failure triggered by febrile infections. The underlying pathophysiological mechanisms remain incompletely understood. With this work we try to shed light
Tian Sun, Nicole Hammann, Lina Leghlam, Bianca Peters, Cigdem Arikan, Sarah M. Bedoyan, Qian Chen, Tal Dattner, Felix Distelmaier, Alexander Fichtner, Sven F. Garbade, Nedim Hadžić, Robert Hegarty, Andrea Hellwig, Marianne Hørby Jørgensen, Carolin Jentsch, Sabine Jung‐Klawitter, Martin Laass, Elke Lainka, Hannah Münch, Halise Neslihan Önenli Mungan, Moritz Niesert, Stephanie Oehrl, Begona Polo, Knut Schäkel, James E. Squires, Stefan Kölker, Georg F. Hoffmann, Christian Staufner, Dominic Lenz   +29 more
wiley   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 5, Page 338-348, July 2026.
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn, Amanda R. Merner, Page M. Trotter, Kaitlynn P. Craig, Abigail C. Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M. Ayton, Takahiro Soda, Eric A. Storch, Gabriel Lázaro‐Muñoz, Stacey Pereira   +11 more
wiley   +1 more source

Relationship Between Central Sensitization and Genetic Polymorphisms—A Case–Control Study in Fibromyalgia

European Journal of Pain, Volume 30, Issue 6, July 2026.
ABSTRACT Background Fibromyalgia is a syndrome characterised by widespread chronic pain, which is believed to be mediated by a state of central sensitisation (CS). Based on the hypothesis that CS itself could have genetic determinants, our aim was to further explore this pathway.
Nicolas Macian, Christian Dualé, Marine Delay, Vincent Leray, Bruno Pereira, Yoan Renaud, Yvonne Gloor, Jules Desmeules, Gisèle Pickering   +8 more
wiley   +1 more source

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Utilization of preimplantation genetic testing for monogenic disorders

Fertility and Sterility, 2020
To determine the rate of utilization, factors influencing the decision-making process, and patient satisfaction with preimplantation genetic diagnosis for monogenic disorders (PGT-M).Survey study.Academic center.Genetically at-risk patients seen for PGT-M consultation between January 2010 and 2018.Electronic survey including demographics, genetic ...
Iris Lee, Snigdha Alur-Gupta, Robert Gallop   +2 more
exaly   +3 more sources