Results 91 to 100 of about 21,998 (244)

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source

Women with epilepsy: Evidence‐based counseling across the lifespan

Epilepsia, EarlyView.
Abstract Women with epilepsy (WWE) encounter distinct and evolving challenges across the lifespan that require clinical management extending beyond seizure control alone. Although awareness of sex‐specific aspects of epilepsy has increased, important gaps remain in their integration into routine care.
Barbara Tettenborn, Georgia Ramantani, Dominique Flügel, Verena Gaus, Susanne Schubert‐Bast, Elisabeth Sellitto, Jennifer Bausch, Bettina Schmitz   +7 more
wiley   +1 more source

Autoimmune premature ovarian failure

Menopause Review, 2017
Premature ovarian failure (POF), also termed as primary ovarian insufficiency (POI), is a highly heterogenous condition affecting 0.5-3.0% of women in childbearing age.
Beata Komorowska
doaj   +1 more source

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies. [PDF]

, 2018
© The Author(s) 2018. Published by Oxford University Press. All rights reserved. SOX8 is an HMG-box transcription factor closely related to SRY and SOX9.
Ahmed, Aleksandar Rajkovic, Andrew J Duncan, Anu Bashamboo, Barrionuevo, Bashamboo, Bashamboo, Bashamboo, Ben Khelifa, Bhagavath, Caburet, Capucine Hyon, Caroline de Malleray Pichard, Caroline Eozenou, Caroline Schluth-Bolard, Celia Ravel, Chaboissier, Christine Louis-Sylvestre, Cooper, Eduardo H Charreau, Erickson, Etienne Patin, Ewa Rajpert-De Meyts, Gonen, Guth, Harteveld, Hassan Rouba, Huang, Hughes, Inas Mazen, Jakubiczka, Jamsai, Jean-Pierre Siffroi, Joelle Bignon-Topalovic, John C Achermann, Ken McElreavey, Kristian Almstrup, Lavery, Lee, Leila Fusee, Liliana Dain, Lin, Liu, Lourenço, Luca Persani, Marie-Charlotte Dumargne, Marie-France Portnoi, Matzuk, Miguel Reyes-Mugica, Neirijnck, Nelson, Ng, Nicol, O'Bryan, Origa, Pierre Validire, Péterfy, Raffaella Rossetti, Raja Brauner, Ralf Jauch, Ray, Salmon, Sandra Chantot-Bastaraud, Sandra Rojo, Schepers, Sekido, Selma F Witchel, Skakkebaek, Smyk, Sophie Christin-Maitre, Stolt, Stuart MacGowan, Suntharalingham, Sutton, Svetlana A Yatsenko, Violeta A Chiauzzi, W H Irwin McLean, Wang, Yatsenko, Yogesh Srivastava   +79 more
core   +9 more sources

Tumor Infiltrating Lymphocyte Therapy Combined With PD‐1/LAG‐3 Inhibition in Patients With Recurrent Platinum‐Resistant Ovarian Cancer

International Journal of Cancer, EarlyView.
The detection of tumor‐infiltrating lymphocytes (TILs) is a positive prognostic factor in ovarian cancer. Moreover, TILs are significantly boosted by immunotherapy, though ovarian cancer patients have seen limited benefit from immune therapies. This study investigated the safety and feasibility of TIL therapy combined with PD‐1 and LAG‐3 inhibitors in ...
Tine J. Monberg, Cathrine L. Lorentzen, Marie C. W. Westergaard, Trine Z. Iversen, Troels H. Borch, Marco Donia, Sigrid M. Mannering, Stine E. W. Banke, Özcan Met, Inge Marie Svane   +9 more
wiley   +1 more source

A ROLE OF OVARIAN AUTOIMMUNITY IN THE PATHPHYSIOLOGY OF PREMATURE OVARIAN INSUFFICIENCY [PDF]

, 2015
Premature ovarian failure (POF) is a term usually used to describe women younger than 40 years of age who present with amenorrhea. Diagnosis of POF is on the basis of follicle stimulating hormone level in the menopausal range associated with amenorrhea ...
Bakun, O.V., Okouronmhu, K.
core  

The mitochondrial DNA copy number and ovary‐related reproductive disorders: A bidirectional two‐sample Mendelian randomization study

International Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 112-120, April 2025.
Abstract Objective In the present study, a bidirectional two‐sample Mendelian randomization approach was utilized to explore potential causal relationships between mitochondrial DNA copy number (mtDNA‐CN) and ovary‐related reproductive disorders (ORRDs), including ovarian dysfunction, ovarian cyst, polycystic ovary syndrome (PCOS), premature ovarian ...
Ke Peng, Xiao Han, Congquan Wu, Qiaowen Lu, Shujun Gao   +4 more
wiley   +1 more source

The calcium-sensing receptor as a regulator of cellular fate in normal and pathological conditions [PDF]

, 2013
The calcium-sensing receptor (CaSR) belongs to the evolutionarily conserved family of plasma membrane G protein-coupled receptors (GPCRs). Early studies identified an essential role for the CaSR in systemic calcium homeostasis through its ability to ...
Benoit, Yves, D'Herde, Katharina, Diez Fraile, Araceli, Lammens, Tim   +3 more
core   +1 more source

Optimizing outcomes in intrauterine insemination: A narrative synthesis of two decades of clinical research (2000–2024)

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Intrauterine insemination (IUI) is a widely used first‐line fertility treatment, yet its success rates vary considerably. This review synthesizes evidence from peer‐reviewed studies published between 2000 and 2024, including randomized controlled trials, cohort and case–control studies, as well as systematic and narrative reviews identified ...
Kasuni Akalanka
wiley   +1 more source

The Effect of Caffeic Acid on the Morphometrical Changes of Ovarian Follicles in Premature Ovarian Insufficiency Model of Mice [PDF]

Journal of Ardabil University of Medical Sciences
Background: Premature ovarian insufficiency (POI) is the cessation of ovarian function in women under 40. One of the mechanisms involved in the induction of POI is oxidative stress.
Reza Javanshir, Hossein Kalarestaghy, Ramin Salimnejad   +2 more
doaj