Results 191 to 200 of about 199,488 (284)
The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...Lotte Kleinendorst, Melanie N. S. Molegraaf, Dorothy K. Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst +4 morewiley +1 more sourceExploring biomarkers of neurodegenerative risk: associations of oxysterols, sex hormones, and reproductive characteristics in older women. [PDF]
J Lipid ResDunk MM, Delac L, Rapp SR, Driscoll I, Latorre-Leal M, Farland LV, Haring B, Harris HR, Jung SY, Manson JE, Ochs-Balcom HM, Shadyab AH, Weitlauf JC, Xu H, Westman E, Maioli S. +15 moreeuropepmc +1 more sourceRelationship between depression and sex steroid hormone among women with epilepsy [PDF]
Luqman Ogunjimi, Akinyinka Alabi, Ibironke Oyenuga, Jeremiah Ogunkunle, Emmanuel O. Kasumu, Oluwaseun Ogunsanya, Oluwatobiloba Oluseyije, Pelumi Ogunbayo, Omorojo Idume, Adeola Kasali, Sarah Adesi, Mariam Oyebowale, Damilola Ogungbemi, Aderonke Aderinola, Emmanuel S. Irokosu, Abdullahi Murtala, Bamidele Osalusi +16 moreopenalex +1 more sourceCytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison +9 morewiley +1 more sourceAre There Causal Associations Between Obsessive‐Compulsive Disorder and Cardiometabolic Phenotypes? A Genetic Correlation and Bi‐Directional Mendelian Randomization Study
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT
In epidemiological studies, obsessive‐compulsive disorder (OCD) is robustly associated with increased risk of cardiometabolic disorders, including cardiovascular diseases, type 2 diabetes, and obesity. However, the mechanisms behind these associations are unclear. We conducted genetic correlation analyses to explore shared genetic etiology and Robyn E. Wootton, James J. Crowley, Josep Pol‐Fuster, Anna Holmberg, Christian Rück, Obsessive‐Compulsive Disorder Working Group of the Psychiatric Genomics Consortium, Nora I. Strom, Zachary F. Gerring, Marco Galimberti, Dongmei Yu, Matthew W. Halvorsen, Abdel Abdellaoui, Cristina Rodriguez‐Fontenla, Julia M. Sealock, Tim Bigdeli, Jonathan R. I. Coleman, Behrang Mahjani, Jackson G. Thorp, Katharina Burton Bey, L. Christie, Jurjen J. Luykx, Gwyneth Zai, Silvia Alemany, Christine Andre, Kathleen D. Askland, Nerisa Banaj, Cristina Barlassina, Becker Nissen, Judith Bienvenu, O. Joseph, Donald Black, Michael H. Bloch, Julia Bäckmann, Sigrid Børte, Rosa Bosch, Michael Breen, Brian P. Brennan, Helena Brentani, Joseph D. Buxbaum, Jonas Bybjerg‐Grauholm, Enda M. Byrne, Judit Cabana‐Dominguez, Beatriz Camarena, Adrian Camarena, Carolina Cappi, Angel Carracedo, Miguel Casas, Maria Cristina Cavallini, Valentina Ciullo, Edwin H. Cook, Jesse Crosby, Bernadette A. Cullen, Elles J. De Schipper, Richard Delorme, Srdjan Djurovic, Jason A. Elias, Xavier Estivill, Martha J. Falkenstein, Bengt T. Fundin, Lauryn Garner, Chris German, Christina Gironda, Fernando S. Goes, Marco A. Grados, Jakob Grove, Wei Guo, Jan Haavik, Kristen Hagen, Kelly Harrington, Alexandra Havdahl, Kira D. Höffler, Ana G. Hounie, Donald Hucks, Christina Hultman, Magdalena Janecka, Eric Jenike, Elinor K. Karlsson, Kara Kelley, Julia Klawohn, Janice E. Krasnow, Kristi Krebs, Christoph Lange, Nuria Lanzagorta, Daniel Levey, Kerstin Lindblad‐Toh, Fabio Macciardi, Brion Maher, Brittany Mathes, Evonne McArthur, Nathaniel McGregor, Nicole C. McLaughlin, Sandra Meier, Euripedes C. Miguel, Maureen Mulhern, Paul S. Nestadt, Erika L. Nurmi, Kevin S. O’Connell, Lisa Osiecki, Olga Therese Ousdal, Teemu Palviainen, Nancy L. Pedersen, Fabrizio Piras, Federica Piras, Sriramya Potluri, Raquel Rabionet, Alfredo Ramirez, Scott Rauch, Abraham Reichenberg, Mark A. Riddle, Stephan Ripke, Maria C. Rosário, Aline S. Sampaio, Miriam A. Schiele, Anne Heidi Skogholt, Laura G. Sloofman, Jan Smit, Soler Artigas, María Thomas, F. Laurent, Eric Tifft, Homero Vallada, Nathanial van Kirk, Jeremy VeenstraVanderWeele, Nienke N. Vulink, Christopher P. Walker, Ying Wang, Jens R. Wendland, Bendik S. Winsvold, Yin Yao, Hang Zhou, Arpana Agrawal, Pino Alonso, Götz Berberich, Kathleen K. Bucholz, Cynthia M. Bulik, Danielle Cath, Damiaan Denys, Valsamma Eapen, Howard Edenberg, Peter Falkai, Thomas V. Fernandez, Abby J. Fyer, J. M. Gaziano, Dan A. Geller, Hans J. Grabe, Benjamin D. Greenberg, Gregory L. Hanna, Ian B. Hickie, David M. Hougaard, Norbert Kathmann, James Kennedy, Dongbing Lai, Mikael Landén, Stéphanie Le Hellard, Marion Leboyer, Christine Lochner, James T. McCracken, Sarah E. Medland, Preben B. Mortensen, Benjamin M. Neale, Humberto Nicolini, Merete Nordentoft, Michele Pato, Carlos Pato, David L. Pauls, John Piacentini, Christopher Pittenger, Danielle Posthuma, Josep Antoni, Steven A. Rasmussen, Margaret A. Richter, David R. Rosenberg, Stephan Ruhrmann, Jack F. Samuels, Sven Sandin, Paul Sandor, Gianfranco Spalletta, Dan J. Stein, S. Evelyn Stewart, Eric A. Storch, Barbara E. Stranger, Maurizio Turiel, Thomas Werge, Ole A. Andreassen, Anders D. Børglum, Susanne Walitza, Kristian Hveem, Bjarne K. Hansen, Christian Rück, Nicholas G. Martin, Lili Milani, Ole Mors, Ted Reichborn‐Kjennerud, Marta Ribasés, Gerd Kvale, Katharina Domschke, Edna Grünblatt, Michael Wagner, John‐Anker Zwart, Gerome Breen, Gerald Nestadt, Jaakko Kaprio, Paul D. Arnold, Dorothy E. Grice, James A. Knowles, Helga Ask, Karin J. Verweij, Lea K. Davis, Dirk J. Smit, James J. Crowley, Jeremiah M. Scharf, Murray B. Stein, Joel Gelernter, Carol A. Mathews, Eske M. Derks, Manuel Mattheisen, David Mataix‐Cols, Lorena Fernández de la Cruz +217 morewiley +1 more sourceEffects of Lead Exposure on 1573 Male Workers' Sex Hormones in China. [PDF]
ToxicsWang P, Wu Z, Li J, Li Y, Wang X, Ma M, Wei W, Wang Y, Liu Y, Sun Y, Tao L, Yang Y, Zhou Z, Ren J, Cao J, Zhang G. +15 moreeuropepmc +1 more sourceMultimorbidity and animal models
Animal Models and Experimental Medicine, EarlyView.Multimorbidity, defined as the coexistence of ≥2 chronic conditions, is associated with aging, genetics, and environmental factors. Animal models in multimorbidity research span three tiers: simple organisms for initial screening → rodents for mechanistic analysis → large mammals for clinical prediction.Xinpei Wang, Yakun Ren, Xingjiu Yang, Mengyuan Li, Junxiu Liu, Xiaoyan Du, Wen Wang, Ran Gao +7 morewiley +1 more sourceDevelopment of an in situ small intestinal injection technique for targeted macromolecule delivery and in vivo functional studies in mice
Animal Models and Experimental Medicine, EarlyView.This study developed a minimally invasive, in situ small intestinal injection technique for mice, enabling targeted delivery of bioactive molecules while bypassing gastric degradation. Validation using functional assays and single‐cell RNA sequencing reveals high‐mobility group box 1–mediated epithelial responses, offering a translational tool for gut ...Yawen Lai, Xintao Zhang, Tingting Luo, Wenhan Chen, Chenyu Ma, Haihua Luo, Jinghua Liu, Jia Xu +7 morewiley +1 more source
