Results 71 to 80 of about 4,947 (206)

CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica

Molecular Genetics and Metabolism Reports, 2021
Steroid 21-hydroxylase deficiency accounts for 95% of congenital adrenal hyperplasia (CAH) cases. Newborn screening has allowed for early detection of the disease, and currently, molecular analysis can identify the genotypes of these patients. Phenotype-genotype correlation has been well described in previous studies.
Andrés Umaña-Calderón, María José Acuña-Navas, Danny Alvarado, Mildred Jiménez, Fred Cavallo-Aita   +4 more
openaire   +3 more sources

The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population

Frontiers in Endocrinology, 2023
ObjectiveCongenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by pathological variants in the CYP21A2 gene.
Katja K. Dumic, Zorana Grubic, Vesna Kusec, Duje Braovac, Kristina Gotovac, Maja Vinkovic, Maja Vucinic, Miroslav Dumic   +7 more
doaj   +1 more source

A 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 more
wiley   +1 more source

Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency: revision of literature and preconception genetic study of five couples [PDF]

, 2011
The deficiency of the enzyme 21-hydroxylase (21-HO) is responsible for about 90% to 95% of all cases of congenital adrenal hyperplasia (HCSR). This disorder is one of the most frequent hereditary illnesses of autosomal recessive trait. The illness can be
Baptista, C, Carrilho, F, Carvalheiro, M, Gonçalves, J, Paiva, S, Ruas, L, Silva, J, Vieira, A   +7 more
core  

Genotype-phenotype correlation in patients with 21-hydroxylase deficiency

Frontiers in Endocrinology, 2023
Introduction21-hydroxylase deficiency (21OHD) is the most common cause of congenital adrenal hyperplasia (CAH). However, patients with 21OHD manifest various phenotypes due to a wide-spectrum residual enzyme activity of different CYP21A2 mutations ...
Peng Tang, Jun Zhang, Song Peng, Yapeng Wang, Haoyang Li, Ze Wang, Yao Zhang, Yiqiang Huang, Jing Xu, Dianzheng Zhang, Qiuli Liu, Luofu Wang, Weihua Lan, Jun Jiang   +13 more
doaj   +1 more source

Society 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 more
wiley   +1 more source

DNA methylation profiling of the human major histocompatibility complex: A pilot study for the Human Epigenome Project [PDF]

, 2004
The Human Epigenome Project aims to identify, catalogue, and interpret genome-wide DNA methylation phenomena. Occurring naturally on cytosine bases at cytosine-guanine dinucleotides, DNA methylation is intimately involved in diverse biological processes ...
Andrews, TD, Beck, S, Berlin, K, Cox, AV, Fischer, J, Gut, IG, Hildmann, T, Howe, KL, Lewin, J, Novik, KL, Olek, A, Otto, T, Rakyan, VK, Tost, J   +13 more
core  

Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency [PDF]

, 2007
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by defects in one of several steroidogenic enzymes involved in the synthesis of cortisol from cholesterol in the adrenal glands.
Friães, A, Gonçalves, J, Moura, L
core   +1 more source

Spectrum of molecular alterations detected in the CYP21A2 gene associated with 21-hydroxylase deficiency [PDF]

, 2018
A maioria dos doentes com hiperplasia suprarrenal congénita (HSC) apresenta alterações moleculares no gene CYP21A2, o qual codifica a enzima 21-hidroxilase (21-OH).
Amaral, Daniela, Antunes, Diana, Berta, Ana, Cardoso, Helena, Cardoso, Rita, Carvalho, Inês, Dinis, Isabel, Gaspar, Isabel, Gomes, Susana, Gonçalves, João, Kay, Teresa, Limbert, Catarina, Lopes, Maria Lurdes, Mirante, Alice, Moldovan, Oana, Pereira, Carla, Pereira-Caetano, Iris, Pina, Rosa, Ramos, Fabiana, Ramos, Lina, Rebelo, Irene, Rodrigues, José Cidade, Sampaio, Lurdes   +22 more
core  

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