Results 81 to 90 of about 4,073 (218)

Genetic 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 more
wiley   +1 more source

Molecular analysis of the CYP21A2 gene in dried blood spot samples.

Medicina, 2020
Fil: Dratler, Gustavo. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P.
Marino, Silvia, Perez Garrido, Natalia, Ramírez, Pablo, Pujana, Matías, Dratler, Gustavo, Belgorosky, Alicia, Marino, Roxana   +6 more
openaire   +3 more sources

Analysis of the CYP21A2 gene pathogenic variants in CAH patients from Surgut using next-generation sequencing (NGS)

Egyptian Journal of Medical Human Genetics
Background 21-hydroxylase deficiency is present in 90–95% of cases of congenital adrenal hyperplasia (CAH). Eleven major pathogenic variants account for 93% of all identified variants in the CYP21A2 gene in various clinical forms of the disease.
Natalia Osinovskaya, Elena Vashukova, Olga Tarasenko, Maria Danilova, Olga Glavnova, Iskender Sultanov, Maxim Donnikov, Yulia Nasykhova, Andrey Glotov   +8 more
doaj   +1 more source

Comprehensive Plasma Metabolome for Identification of Novel Biomarkers of Acute Myocardial Infarction

MedComm, Volume 6, Issue 8, August 2025.
This study detected 1498 metabolites using untargeted metabolomics in discovery and validation sets. Multivariate analysis revealed differences between healthy controls, AMI, and UA groups, identifying AMI‐specific metabolites. Enrichment analysis explored their biological significance. Machine learning techniques like random forest and neural networks
Jun Liu, Yi Yu, Qiqi Lu, Shan‐Qiang Zhang, Ji‐Cheng Li   +4 more
wiley   +1 more source

Growth Patterns in the First Three Years of Life in Children with Classical Congenital Adrenal Hyperplasia Diagnosed by Newborn Screening and Treated with Low Doses of Hydrocortisone [PDF]

, 2011
Background: Linear growth is the best clinical parameter for monitoring metabolic control in classical congenital adrenal hyperplasia (CAH). Objective: To analyze growth patterns in children with CAH diagnosed by newborn screening and treated with ...
Bonfig, W., Schmidt, H., Schwarz, H. P.
core   +1 more source

Unravelling Osteoporosis: Key Genes and Potential Therapies

Journal of Cellular and Molecular Medicine, Volume 29, Issue 15, August 2025.
ABSTRACT Osteoporosis is a metabolic bone disease characterised by decreased bone mass and increased fracture risk, especially in aging women. Current treatments have limitations and side effects, prompting the need for novel therapeutic targets. Using Mendelian randomisation (MR) on the basis of GWAS data from the FinnGen consortium, we identified ...
Huichao Fu, Yunjiao Wu, Hongfei Lv, Li‐an Qiu, Weifeng Hu, Hongyun Wu, Junda Qian, Xiongjie Liang, Xiaoyan Wang, Gongping Xu   +9 more
wiley   +1 more source

Congenital adrenal hyperplasia: Diagnostic advances [PDF]

, 2018
Summary: Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex.
Biason-Lauber, Anna, Torresani, T.
core   +1 more source

Genomic technologies and the diagnosis of 46, XY differences of sex development

Andrology, Volume 13, Issue 5, Page 1025-1043, July 2025.
Abstract Differences/disorders of sex development can be caused by disruptions to the molecular and cellular mechanisms that control development and sex determination of the reproductive organs with 1:100 live births affected. Multiple genes are associated with 46, XY differences/disorders of sex development that can cause varying clinical phenotypes ...
Firman Idris, Andrew H. Sinclair, Katie L. Ayers   +2 more
wiley   +1 more source

Common CYP21A2 Gene Mutations in South Indian Congenital Adrenal Hyperplasia Patients

International Journal of Human Genetics, 2017
About 90 percent of Congenital Adrenal Hyperplasia (CAH) patients exhibit defects in the CYP21A2 gene that results in steroid 21-hydroxylase deficiency (21-OHD).
R. Nageshwari, M. Dhivakar, K. Balakrishnan, Sivan Arul Selvan, V. Kumaravel   +4 more
openaire   +1 more source

The gut‐microbiota‐brain axis: Focus on gut steroids

Journal of Neuroendocrinology, Volume 37, Issue 7, July 2025.
Abstract There are over 1000 varieties of steroids that have been reported in nature, including the endogenous sex steroid hormones (i.e., progesterone, testosterone, and 17β‐estradiol) and corticosteroids which are mainly synthesized by gonads and adrenals, respectively.
Silvia Diviccaro, Silvia Giatti, Lucia Cioffi, Gabriela Chrostek, Roberto Cosimo Melcangi   +4 more
wiley   +1 more source