Results 51 to 60 of about 2,980 (198)
Predicting Residual 21‐Hydroxylase Enzymatic Activity in Pediatric and Adult Congenital Adrenal Hyperplasia Patients: Towards Individualized Therapy
CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 11, Page 1869-1881, November 2025.ABSTRACT
Congenital adrenal hyperplasia (CAH) is a genetic disorder characterized by impaired cortisol production and consequent elevated adrenocorticotropic hormone (ACTH): CAH patients often require lifelong hydrocortisone therapy. Disease severity reflects residual 21‐hydroxylase enzyme activity, crucial for cortisol synthesis.Davide Bindellini, Robin Michelet, Yersultan Mirasbekov, Qizong Lao, Charles Sukin, Wilhelm Huisinga, Deborah P. Merke, Charlotte Kloft +7 morewiley +1 more sourceA Transcriptome‐Wide Association Study Identifies Candidate Susceptibility Loci and Genes for Lung Cancer Risk
Cancer Medicine, Volume 14, Issue 20, October 2025.A transcriptome‐wide association study identified 40 genes associated with the risk of lung cancer, leveraging gene expression and genotype data from the Genotype‐Tissue Expression (GTEx) project and summary statistics of a genome‐wide association study on lung cancer.Tianying Zhao, Jiajun Shi, Yaohua Yang, Dan Zhou, Jie Ping, Shuai Xu, Lili Xu, Jie Wu, Xiao‐Ou Shu, Ran Tao, Bingshan Li, Wei Zheng, Jirong Long, Qiuyin Cai +13 morewiley +1 more sourceSociety for Endocrinology Clinical Practice Guideline for the Evaluation of Androgen Excess in Women
Clinical Endocrinology, Volume 103, Issue 4, Page 540-566, October 2025.ABSTRACT Context
Androgen excess is common in women and refers to clinical or biochemical evidence of elevated androgenic steroids such as testosterone. It is associated with underlying polycystic ovary syndrome in the majority of cases. However severe androgen excess is less common and may indicate the presence of underlying adrenal or ovarian ...Yasir S. Elhassan, James M. Hawley, Leanne Cussen, Ali Abbara, Sophie A. Clarke, Punith Kempegowda, Rima K. Dhillon‐Smith, Puja Thadani, Maureen Busby, Lucy Owusu‐Darkwah, Rachel Marrington, W. Colin Duncan, Robert K. Semple, Richard Quinton, Michael W. O'Reilly +14 morewiley +1 more sourceGenetic Loci Associated With Periodontitis: The FinnGen Study Based on National Health Registers
Journal of Clinical Periodontology, Volume 52, Issue 9, Page 1263-1275, September 2025.ABSTRACT Aim
To perform a genome‐wide association study (GWAS) for periodontitis in the FinnGen cohort, as genetic factors contribute to periodontitis. Materials and Methods
We included nearly 250,000 Finnish individuals who had visited a dentist in the public healthcare sector for a clinical oral examination. We designed three periodontitis phenotypes Aino Salminen, Kati Hyvärinen, Jarmo Ritari, Ana Caetano, Oleg Kambur, Päivi Mäntylä, Mustafa Yilmaz, Juha Sinisalo, FinnGen, Aarno Palotie, Mark Daly, Bridget Riley‐Gills, Howard Jacob, Dirk Paul, Slavé Petrovski, Heiko Runz, Sally John, George Okafo, Robert Plenge, Joseph Maranville, Mark McCarthy, Margaret G. Ehm, Kirsi Auro, Simonne Longerich, Anders Mälarstig, Katherine Klinger, Clement Chatelain, Matthias Gossel, Karol Estrada, Robert Graham, Dawn Waterworth, Chris O’Donnell, Nicole Renaud, Tomi P. Mäkelä, Jaakko Kaprio, Petri Virolainen, Antti Hakanen, Terhi Kilpi, Jukka Partanen, Anne Pitkäranta, Taneli Raivio, Jani Tikkanen, Raisa Serpi, Tarja Laitinen, Veli‐Matti Kosma, Jari Laukkanen, Marco Hautalahti, Outi Tuovila, Raimo Pakkanen, Jeffrey Waring, Fedik Rahimov, Ioanna Tachmazidou, Chia‐Yen Chen, Zhihao Ding, Marc Jung, Hanati Tuoken, Shameek Biswas, Rion Pendergrass, David Pulford, Neha Raghavan, Adriana Huertas‐Vazquez, Jae‐Hoon Sul, Anders Mälarstig, Xinli Hu, Åsa Hedman, Robert Graham, Manuel Rivas, Ma’en Obeidat, Jonathan Chung, Jonas Zierer, Mari Niemi, Samuli Ripatti, Johanna Schleutker, Mikko Arvas, Olli Carpén, Reetta Hinttala, Johannes Kettunen, Arto Mannermaa, Katriina Aalto‐Setälä, Mika Kähönen, Johanna Mäkelä, Reetta Kälviäinen, Valtteri Julkunen, Hilkka Soininen, Anne Remes, Mikko Hiltunen, Jukka Peltola, Minna Raivio, Pentti Tienari, Juha Rinne, Roosa Kallionpää, Juulia Partanen, Adam Ziemann, Nizar Smaoui, Anne Lehtonen, Susan Eaton, Sanni Lahdenperä, Edmond Teng, Fanli Xu, Laura Addis, John Eicher, Qingqin S. Li, Karen He, Ekaterina Khramtsova, Martti Färkkilä, Jukka Koskela, Sampsa Pikkarainen, Airi Jussila, Katri Kaukinen, Timo Blomster, Mikko Kiviniemi, Markku Voutilainen, Tim Lu, Natalie Bowers, Linda McCarthy, Amy Hart, Meijian Guan, Jason Miller, Kirsi Kalpala, Melissa Miller, Kari Eklund, Antti Palomäki, Pia Isomäki, Laura Pirilä, Oili Kaipiainen‐Seppänen, Johanna Huhtakangas, Nina Mars, Apinya Lertratanakul, Coralie Viollet, Marla Hochfeld, Jorge Esparza Gordillo, Fabiana Farias, Nan Bing, Margit Pelkonen, Paula Kauppi, Hannu Kankaanranta, Terttu Harju, Riitta Lahesmaa, Hubert Chen, Natalie Bowers, Joanna Betts, Rajashree Mishra, Majd Mouded, Debby Ngo, Teemu Niiranen, Felix Vaura, Veikko Salomaa, Kaj Metsärinne, Jenni Aittokallio, Jussi Hernesniemi, Daniel Gordin, Marja‐Riitta Taskinen, Tiinamaija Tuomi, Timo Hiltunen, Amanda Elliott, Mary Pat Reeve, Sanni Ruotsalainen, Audrey Chu, Dermot Reilly, Mike Mendelson, Jaakko Parkkinen, Tuomo Meretoja, Heikki Joensuu, Johanna Mattson, Eveliina Salminen, Annika Auranen, Peeter Karihtala, Päivi Auvinen, Klaus Elenius, Esa Pitkänen, Relja Popovic, Margarete Fabre, Jennifer Schutzman, Diptee Kulkarni, Alessandro Porello, Andrey Loboda, Heli Lehtonen, Stefan McDonough, Sauli Vuoti, Kai Kaarniranta, Joni A. Turunen, Terhi Ollila, Hannu Uusitalo, Juha Karjalainen, Mengzhen Liu, Stephanie Loomis, Erich Strauss, Hao Chen, Rion Pendergrass, Kaisa Tasanen, Laura Huilaja, Katariina Hannula‐Jouppi, Teea Salmi, Sirkku Peltonen, Leena Koulu, David Choy, Ying Wu, Tuula Salo, David Rice, Pekka Nieminen, Ulla Palotie, Maria Siponen, Liisa Suominen, Vuokko Anttonen, Kirsi Sipilä, Hannele Laivuori, Venla Kurra, Laura Kotaniemi‐Talonen, Oskari Heikinheimo, Ilkka Kalliala, Lauri Aaltonen, Varpu Jokimaa, Marja Vääräsmäki, Outi Uimari, Laure Morin‐Papunen, Maarit Niinimäki, Terhi Piltonen, Katja Kivinen, Elisabeth Widen, Taru Tukiainen, Niko Välimäki, Eija Laakkonen, Jaakko Tyrmi, Heidi Silven, Eeva Sliz, Riikka Arffman, Susanna Savukoski, Triin Laisk, Natalia Pujol, Janet Kumar, Iiris Hovatta, Erkki Isometsä, Hanna Ollila, Jaana Suvisaari, Antti Mäkitie, Argyro Bizaki‐Vallaskangas, Sanna Toppila‐Salmi, Tytti Willberg, Elmo Saarentaus, Antti Aarnisalo, Elisa Rahikkala, Kristiina Aittomäki, Fredrik Åberg, Mitja Kurki, Juha Mehtonen, Priit Palta, Shabbeer Hassan, Pietro Della Briotta Parolo, Wei Zhou, Mutaamba Maasha, Susanna Lemmelä, Aoxing Liu, Arto Lehisto, Andrea Ganna, Vincent Llorens, Henrike Heyne, Joel Rämö, Rodos Rodosthenous, Satu Strausz, Tuula Palotie, Kimmo Palin, Javier Garcia‐Tabuenca, Harri Siirtola, Tuomo Kiiskinen, Jiwoo Lee, Kristin Tsuo, Kati Kristiansson, Kati Hyvärinen, Jarmo Ritari, Katri Pylkäs, Minna Karjalainen, Tuomo Mantere, Eeva Kangasniemi, Sami Heikkinen, Nina Pitkänen, Samuel Lessard, Lila Kallio, Tiina Wahlfors, Eero Punkka, Sanna Siltanen, Teijo Kuopio, Anu Jalanko, Huei‐Yi Shen, Risto Kajanne, Mervi Aavikko, Helen Cooper, Denise Öller, Rasko Leinonen, Henna Palin, Malla‐Maria Linna, Masahiro Kanai, Zhili Zheng, L. Elisa Lahtela, Mari Kaunisto, Elina Kilpeläinen, Timo P. Sipilä, Oluwaseun Alexander Dada, Awaisa Ghazal, Anastasia Kytölä, Rigbe Weldatsadik, Anu Loukola, Päivi Laiho, Tuuli Sistonen, Essi Kaiharju, Markku Laukkanen, Elina Järvensivu, Sini Lähteenmäki, Lotta Männikkö, Regis Wong, Auli Toivola, Minna Brunfeldt, Hannele Mattsson, Sami Koskelainen, Tero Hiekkalinna, Teemu Paajanen, Shuang Luo, Shanmukha Sampath Padmanabhuni, Marianna Niemi, Mika Helminen, Tiina Luukkaala, Iida Vähätalo, Jyrki Tammerluoto, Sarah Smith, Tom Southerington, Petri Lehto, Markus Perola, Aki Havulinna, Luigi Nibali, Ulvi Kahraman Gürsoy, Pirkko J. Pussinen +329 morewiley +1 more sourceCYP21A2 gene mutationsin the women with recurrent miscarriage
Journal of obstetrics and women's diseases, 2012 Miscarriage is one of the major problems of modern reproduction. Total frequency of micarrieges is estimated as 15–27 % of total pregnancies. Recurrent Miscarriage (RM) (three or more spontaneous abortions) is responsible for almost 20 % of total miscarrieges. The population frequency of RM fluctuates from 2 % to 5 %.Natalya Sergeevna Osinovskaya, Iskender Yuryevich Sultanov, Tatyana Eduardovna Ivaschenko, Vladislav Sergeevich Baranov +3 moreopenaire +2 more sourcesRapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS Short title: CYP21A2 genotyping using MALDI-TOF MS
, 2023 Abstract Background Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) based on hormonal testing is successfully implemented in many countries. However, this method cannot detect non-classic CAH and has high false positive rates. Methods This study aimed to develop a novel MALDI-TOF MS assay that can identify common variants and Xiaoshan Yin, Yiming Lin, Ting Zhang, Haixia Miao, Lingwei Hu, Zhenzhen Hu, Dou Zhou, Benqing Wu, Xinwen Huang +8 moreopenaire +1 more source
