Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 148 Records) |
Query Trace: SERPINA1[original query] |
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Disease Status at Diagnosis in Danish Children with ? 1 -antitrypsin Deficiency. Journal of pediatric gastroenterology and nutrition 2022 9 75 (5): 629-634. Winther Christina Louise, Nyrann Sofie, Nielsen Rasmus Gaardskaer, Duno Morten, Johansen Klaus Birkelund, Helt Thora Wesenberg, Brix Christensen Vibe |
Distribution of the Clinical Manifestations of Alpha 1 Antitrypsin Deficiency in Respiratory Outpatients from an Area of Northern Italy. Respiration; international review of thoracic diseases 2022 7 101 (9): 851-858. Aiello Marina, Marchi Laura, Ferrarotti Ilaria, Frizzelli Annalisa, Pisi Roberta, Calzetta Luigino, Manari Gaia, Pelà Giovanna, Russo Annalisa, Minerba Roberta, Aloe Rosalia, Ranzieri Silvia, Corradi Massimo, Chetta Alfre |
COVID-19 Survivor Patients Carrying the Rs35705950 Risk Allele in MUC5B Have Higher Plasma Levels of Mucin 5B. Current issues in molecular biology 2022 Jul 44 (8): 3283-3290. García-Carmona Salvador, Falfán-Valencia Ramcés, Verónica-Aguilar Abigail, Buendía-Roldán Ivette, Chávez-Galán Leslie, Hernández-Zenteno Rafael de Jesús, Martínez-Morales Alfonso, Fricke-Galindo Ingrid, Alanis-Ponce Jesús, Valencia-Pérez Rea Daniela, Gutiérrez-Pérez Ilse Adriana, Zaragoza-García Oscar, Nava-Quiroz Karol J, Camarena Angel, Mejía Mayra, Guzmán-Guzmán Iris Paola, Pérez-Rubio Glor |
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases. Journal of personalized medicine 2022 7 12 (7): . Sotnikova Evgeniia A, Kiseleva Anna V, Kutsenko Vladimir A, Zharikova Anastasia A, Ramensky Vasily E, Divashuk Mikhail G, Vyatkin Yuri V, Klimushina Marina V, Ershova Alexandra I, Revazyan Karina Z, Skirko Olga P, Zaicenoka Marija, Efimova Irina A, Pokrovskaya Maria S, Kopylova Oksana V, Glechan Anush M, Shalnova Svetlana A, Meshkov Alexey N, Drapkina Oxana |
Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE). Frontiers in allergy 2022 7 3 868185. Parsopoulou Faidra, Loules Gedeon, Zamanakou Maria, Csuka Dorottya, Szilagyi Agnes, Kompoti Maria, Porebski Grzegorz, Psarros Fotis, Magerl Markus, Valerieva Anna, Staevska Maria, Obtulowicz Krystyna, Maurer Marcus, Speletas Matthaios, Farkas Henriette, Germenis Anastasios |
A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.
Nature genetics 2022 Jun 54 (6): 761-771. Vujkovic Marijana, Ramdas Shweta, Lorenz Kim M, Guo Xiuqing, Darlay Rebecca, Cordell Heather J, He Jing, Gindin Yevgeniy, Chung Chuhan, Myers Robert P, Schneider Carolin V, Park Joseph, Lee Kyung Min, Serper Marina, Carr Rotonya M, Kaplan David E, Haas Mary E, MacLean Matthew T, Witschey Walter R, Zhu Xiang, Tcheandjieu Catherine, Kember Rachel L, Kranzler Henry R, Verma Anurag, Giri Ayush, Klarin Derek M, Sun Yan V, Huang Jie, Huffman Jennifer E, Creasy Kate Townsend, Hand Nicholas J, Liu Ching-Ti, Long Michelle T, Yao Jie, Budoff Matthew, Tan Jingyi, Li Xiaohui, Lin Henry J, Chen Yii-Der Ida, Taylor Kent D, Chang Ruey-Kang, Krauss Ronald M, Vilarinho Silvia, Brancale Joseph, Nielsen Jonas B, Locke Adam E, Jones Marcus B, Verweij Niek, Baras Aris, Reddy K Rajender, Neuschwander-Tetri Brent A, Schwimmer Jeffrey B, Sanyal Arun J, Chalasani Naga, Ryan Kathleen A, Mitchell Braxton D, Gill Dipender, Wells Andrew D, Manduchi Elisabetta, Saiman Yedidya, Mahmud Nadim, Miller Donald R, Reaven Peter D, Phillips Lawrence S, Muralidhar Sumitra, DuVall Scott L, Lee Jennifer S, Assimes Themistocles L, Pyarajan Saiju, Cho Kelly, Edwards Todd L, Damrauer Scott M, Wilson Peter W, Gaziano J Michael, O'Donnell Christopher J, Khera Amit V, Grant Struan F A, Brown Christopher D, Tsao Philip S, Saleheen Danish, Lotta Luca A, Bastarache Lisa, Anstee Quentin M, Daly Ann K, Meigs James B, Rotter Jerome I, Lynch Julie A, , , , , Rader Daniel J, Voight Benjamin F, Chang Kyong- |
Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis. Respiratory research 2022 Jun 23 (1): 152. Lopez-Campos José Luis, Osaba Lourdes, Czischke Karen, Jardim José R, Fernandez Acquier Mariano, Ali Abraham, Günen Hakan, Rapun Noelia, Drobnic Estrella, Miravitlles Ma |
Hepatic decompensation is accelerated in patients with cirrhosis and alpha-1 antitrypsin Pi?MZ genotype. JHEP reports : innovation in hepatology 2022 Jun 4 (6): 100483. Chen Vincent L, Burkholder Daniel A, Moran Isabel J, DiBattista Jacob V, Miller Matthew J, Chen Yanhua, Du Xiaomeng, Oliveri Antonino, Cushing Kelly C, Lok Anna S, Speliotes Elizabeth |
Association of Single Nucleotide Polymorphism rs17580 with Smoking and Pulmonary Tuberculosis. Journal of healthcare engineering 2022 4 2022 6984403. Li Tao, Han Shun |
Understanding the complex genetic architecture connecting rheumatoid arthritis, osteoporosis and inflammation: discovering causal pathways. Human molecular genetics 2022 3 31 (16): 2810-2819. Kasher Melody, Williams Frances M K, Freidin Maxim B, Malkin Ida, Cherny Stacey S, , Livshits Grego |
Frequency of alleles and genotypes associated with alpha-1 antitrypsin deficiency in clinical and general populations: Revelations about underdiagnosis. Pulmonology 2022 3 . Hernández-Pérez J M, Ramos-Díaz R, Vaquerizo-Pollino C, Pérez J |
A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome. Nature communications 2022 3 13 (1): 1598. Skuladottir Astros Th, Bjornsdottir Gyda, Ferkingstad Egil, Einarsson Gudmundur, Stefansdottir Lilja, Nawaz Muhammad Sulaman, Oddsson Asmundur, Olafsdottir Thorunn A, Saevarsdottir Saedis, Walters G Bragi, Magnusson Sigurdur H, Bjornsdottir Anna, Sveinsson Olafur A, Vikingsson Arnor, Hansen Thomas Folkmann, Jacobsen Rikke Louise, Erikstrup Christian, Schwinn Michael, Brunak Søren, Banasik Karina, Ostrowski Sisse Rye, Troelsen Anders, Henkel Cecilie, Pedersen Ole Birger, , Jonsdottir Ingileif, Gudbjartsson Daniel F, Sulem Patrick, Thorgeirsson Thorgeir E, Stefansson Hreinn, Stefansson Ka |
The Role of Single-Nucleotide Polymorphisms in Cholangiocarcinoma: A Systematic Review. Cancers 2022 12 14 (23): . Wang Guanwu, Heij Lara Rosaline, Liu Dong, Dahl Edgar, Lang Sven Arke, Ulmer Tom Florian, Luedde Tom, Neumann Ulf Peter, Bednarsch J |
Frequency of alpha-1 antitrypsin deficiency and unexpected results in COPD patients in Turkey; rare variants are common. Turkish journal of medical sciences 2022 11 52 (5): 1478-1485. Çörtük Mustafa, Demirkol Bar??, Arslan Melih Akay, ?lhan Umut, Kalkan Yunus Emre, Turan Demet, Gül ?ule, Ç?narka Halit, Baydili Kür?ad Nuri, Çetinkaya Erdo? |
Influence of SERPINA1 Gene Polymorphisms on Anemia and Chronic Obstructive Pulmonary Disease. Journal of the renin-angiotensin-aldosterone system : JRAAS 2022 11 2022 2238320. Sangeetha Thangavelu, Nargis Begum Tajuddin, Balamuralikrishnan Balasubramanian, Arun Meyyazhagan, Rengasamy Kannan R R, Senthilkumar Natchiappan, Velayuthaprabhu Shanmugam, Saradhadevi Muthukrishnan, Sampathkumar Palanisamy, Vijaya Anand Arumug |
Meta-analysis confirmed genetic susceptibility conferred by multiple risk variants from CTLA4 and SERPINA1 in granulomatosis with polyangiitis. International journal of rheumatic diseases 2022 Jun . Banerjee Pratibha, Kumar Uma, Khetarpal Preeti, Senapati Sabyasac |
Plasma cortisol-linked gene networks in hepatic and adipose tissues implicate corticosteroid-binding globulin in modulating tissue glucocorticoid action and cardiovascular risk. Frontiers in endocrinology 2023 9 14 1186252. Sean Bankier, Lingfei Wang, Andrew Crawford, Ruth A Morgan, Arno Ruusalepp, Ruth Andrew, Johan L M Björkegren, Brian R Walker, Tom Micho |
Liver disease progression in patients with alpha-1 antitrypsin deficiency and protease inhibitor ZZ genotype with or without lung disease. Alimentary pharmacology & therapeutics 2023 9 . Tiffany Wu, May Hagiwara, Esteban Gnass, Hannah Barman, David Sasson, William Treem, Kaili Ren, Ed G Marins, Chitra Karki, Harmeet Mal |
Population genetic testing and SERPINA1 sequencing identifies unidentified alpha-1 antitrypsin deficiency alleles and gene-environment interaction with hepatitis C infection. PloS one 2023 8 18 (8): e0286469. Bryce A Schuler, Lisa Bastarache, Janey Wang, Jing He, Sara L Van Driest, Joshua C Den |
Whole genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles. medRxiv : the preprint server for health sciences 2023 7 . Jennifer E Huffman, Jayna Nicolas, Julie Hahn, Adam S Heath, Laura M Raffield, Lisa R Yanek, Jennifer A Brody, Florian Thibord, Laura Almasy, Traci M Bartz, Lawrence F Bielak, Russell P Bowler, Germán D Carrasquilla, Daniel I Chasman, Ming-Huei Chen, David B Emmert, Mohsen Ghanbari, Jeffery Haessle, Jouke-Jan Hottenga, Marcus E Kleber, Ngoc-Quynh Le, Jiwon Lee, Joshua P Lewis, Ruifang Li-Gao, Jian'an Luan, Anni Malmberg, Massimo Mangino, Riccardo E Marioni, Angel Martinez-Perez, Nathan Pankratz, Ozren Polasek, Anne Richmond, Benjamin At Rodriguez, Jerome I Rotter, Maristella Steri, Pierre Suchon, Stella Trompet, Stefan Weiss, Marjan Zare, Paul Auer, Michael H Cho, Paraskevi Christofidou, Gail Davies, Eco de Geus, Jean-François Deleuze, Graciela E Delgado, Lynette Ekunwe, Nauder Faraday, Martin Gögele, Andreas Greinacher, Gao He, Tom Howard, Peter K Joshi, Tuomas O Kilpeläinen, Jari Lahti, Allan Linneberg, Silvia Naitza, Raymond Noordam, Ferran Paüls-Vergés, Stephen S Rich, Frits R Rosendaal, Igor Rudan, Kathleen A Ryan, Juan Carlos Souto, Frank Ja van Rooij, Heming Wang, Wei Zhao, Lewis C Becker, Andrew Beswick, Michael R Brown, Brian E Cade, Harry Campbell, Kelly Cho, James D Crapo, Joanne E Curran, Moniek Pm de Maat, Margaret Doyle, Paul Elliott, James S Floyd, Christian Fuchsberger, Niels Grarup, Xiuqing Guo, Sarah E Harris, Lifang Hou, Ivana Kolcic, Charles Kooperberg, Cristina Menni, Matthias Nauck, Jeffrey R O'Connell, Valeria Orrù, Bruce M Psaty, Katri Räikkönen, Jennifer A Smith, Jose Manuel Soria, David J Stott, Astrid van Hylckama Vlieg, Hugh Watkins, Gonneke Willemsen, Peter Wilson, Yoav Ben-Shlomo, John Blangero, Dorret Boomsma, Simon R Cox, Abbas Dehghan, Johan G Eriksson, Edoardo Fiorillo, Myriam Fornage, Torben Hansen, Caroline Hayward, M Arfan Ikram, J Wouter Jukema, Sharon Lr Kardia, Leslie A Lange, Winfried März, Rasika A Mathias, Braxton D Mitchell, Dennis O Mook-Kanamori, Pierre-Emmanuel Morange, Oluf Pedersen, Peter P Pramstaller, Susan Redline, Alexander Reiner, Paul M Ridker, Edwin K Silverman, Tim D Spector, Uwe Völker, Nick Wareham, James F Wilson, Jie Yao, , , David-Alexandre Trégouët, Andrew D Johnson, Alisa S Wolberg, Paul S de Vries, Maria Sabater-Lleal, Alanna C Morrison, Nicholas L Smi |
Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network. Human genomics 2023 6 17 (1): 48. José Luis Lopez-Campos, Noelia Rapun, Karen Czischke, José R Jardim, Mariano Fernandez Acquier, Abraham Ali Munive, Hakan Günen, Estrella Drobnic, Marc Miravitlles, Lourdes Osa |
Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea. Diagnostics (Basel, Switzerland) 2023 6 13 (12): . Hye Jung Park, Yong Jun Choi, Chul Hwan Park, Tae Hoon Kim, Sung Soo Lee, Duk Hwan Moon, Kyung-A Lee, Sang Eun Lee, Moo Suk Park, Song Yee Kim, Yoon Soo Chang, Seok Jeong Lee, Ji Ye Jung, Ji-Ho Lee, Su Hwan Lee, Taehee Kim, Sung-Ryeol Kim, Kangjoon Kim, Min Kwang By |
Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations. Pulmonology 2023 5 . Elena Martín-González, José M Hernández-Pérez, José A Pérez Pérez, Javier Pérez-García, Esther Herrera-Luis, Ruperto González-Pérez, Orelvis González-González, Elena Mederos-Luis, Inmaculada Sánchez-Machín, Paloma Poza-Guedes, Olaia Sardón, Paula Corcuera, María J Cruz, Francisco J González-Barcala, Carlos Martínez-Rivera, Joaquim Mullol, Xavier Muñoz, José M Olaguibel, Vicente Plaza, Santiago Quirce, Antonio Valero, Joaquín Sastre, Javier Korta-Murua, Victoria Del Pozo, Fabián Lorenzo-Díaz, Jesús Villar, María Pino-Yanes, Mario A González-Carrace |
Impact of Bronchiectasis on COPD Severity and Alpha-1 Antitrypsin Deficiency as a Risk Factor in Individuals with a Heavy Smoking History. Chronic obstructive pulmonary diseases (Miami, Fla.) 2023 5 . Manuel Izquierdo, Chad R Marion, Frank Genese, John D Newell, Wanda K O'Neal, Xingnan Li, Gregory A Hawkins, Igor Barjaktarevic, R Graham Barr, Stephanie Christenson, Christopher B Cooper, David Couper, Jeffrey Curtis, Meilan K Han, Nadia N Hansel, Richard E Kanner, Fernando J Martinez, Robert Paine, Vickram Tejwani, Prescott G Woodruff, Joe G Zein, Eric A Hoffman, Stephen P Peters, Deborah A Meyers, Eugene R Bleecker, Victor E Ortega, |
Stratified Genetic Analysis Reveals Sex Differences In MPO-ANCA-associated Vasculitis. Rheumatology (Oxford, England) 2023 4 . Ekman Diana, Sennblad Bengt, Knight Ann, Karlsson Åsa, Rantapää-Dahlqvist Solbritt, Berglin Ewa, Stegmayr Bernd, Baslund Bo, Palm Øyvind, Haukeland Hilde, Gunnarsson Iva, Bruchfeld Annette, Segelmark Mårten, Ohlsson Sophie, Mohammad Aladdin J, Svärd Anna, Pullerits Rille, Herlitz Hans, Söderbergh Annika, Omdal Roald, Jonsson Roland, Rönnblom Lars, Eriksson Per, Lindblad-Toh Kerstin, Dahlqvist Johan |
Comprehensive Clinical Diagnostic Pipelines Reveal New Variants in Alpha-1-Antitrypsin Deficiency. American journal of respiratory cell and molecular biology 0 . Ottaviani Stefania, Bartoli Giulia, Carroll Tomás P, Gangemi Fabrizio, Balderacchi Alice M, Barzon Valentina, Corino Alessandra, Piloni Davide, McElvaney Noel G, Corsico Angelo G, Irving James A, Fra Annamaria, Ferrarotti Ilar |
Prognostic risk analysis related to radioresistance genes in colorectal cancer. Frontiers in oncology 2023 2 12 1100481. Qin Haoren, Zhang Heng, Li Haipeng, Xu Qiong, Sun Wanjun, Zhang Shiwu, Zhang Xipeng, Zhu Siwei, Wang H |
Association of Alpha-1 Antitrypsin Pi*Z Allele Frequency and Progressive Liver Fibrosis in Two Chronic Hepatitis C Cohorts. Journal of clinical medicine 2023 1 12 (1): . Mücke Victoria Therese, Fischer Janett, Mücke Marcus Maximilian, Teumer Alexander, Koch Alexander, Vermehren Johannes, Fromme Malin, Zeuzem Stefan, Trautwein Christian, Sarrazin Christoph, Berg Thomas, Zhou Biaohuan, Hamesch Kar |
Characteristics of Patients With Alpha-1 Antitrypsin Deficiency From Rural Appalachia: A Retrospective Single-Center Study. Cureus 2024 4 16 (3): e56395. Sandhya Kolagatla, Dedeepya Gullapalli, Avinash Vangara, Regina Chan, Derek Jernigan, Nagabhishek Moka, Subramanya Shyam Gan |
Genetic predisposition to differentiated thyroid cancer among Polish population. Polish archives of internal medicine 2024 1 . Martyna Borowczyk, Mateusz Sypniewski, Joanna Szyda, Ma?gorzata Braszka, Katarzyna Ziemnicka, Marek Rucha?a, Michalina Oszywa, Zbigniew J Król, Paula Dobo |
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