Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits.
Scientific Reports
Deming, Yuetiva Y; Xia, Jian J; Cai, Yefei Y; Lord, Jenny J; Del-Aguila, Jorge L JL; Fernandez, Maria Victoria MV; Carrell, David D; Black, Kathleen K; Budde, John J; Ma, ShengMei S; Saef, Benjamin B; Howells, Bill B; Bertelsen, Sarah S; Bailey, Matthew M; Ridge, Perry G PG; , ; Holtzman, David D; Morris, John C JC; Bales, Kelly K; Pickering, Eve H EH; Lee, Jin-Moo JM; Heitsch, Laura L; Kauwe, John J; Goate, Alison A; Piccio, Laura L; Cruchaga, Carlos C
Conference Proceedings - 6th International Conference on Molecular Diagnostics and Biomarker Discovery (MDBD 2022): Building Resilience in Biomedical Research : Penang, Malaysia. 11-13 October 2022.
Genetic Aspects of Micronutrients Important for Inflammatory Bowel Disease.
Life (Basel, Switzerland)
Dragasevic, Sanja S; Stankovic, Biljana B; Kotur, Nikola N; Milutinovic, Aleksandra Sokic AS; Milovanovic, Tamara T; Stojkovic Lalosevic, Milica M; Stojanovic, Maja M; Pavlovic, Sonja S; Popovic, Dragan D
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: TF: 739C>T; L247L; rs1799852
Clinical relationship between anemia and atrial fibrillation recurrence after catheter ablation without genetic background.
International Journal Of Cardiology. Heart & Vasculature
Kim, Min M; Hong, Myunghee M; Kim, Jong-Youn JY; Kim, In-Soo IS; Yu, Hee Tae HT; Kim, Tae-Hoon TH; Uhm, Jae-Sun JS; Joung, Boyoung B; Lee, Moon-Hyoung MH; Pak, Hui-Nam HN
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.
Journal Of Medical Genetics
Codina-Sola, Marta M; Costa-Roger, Mar M; Pérez-García, Debora D; Flores, Raquel R; Palacios-Verdú, Maria Gabriela MG; Cusco, Ivon I; Pérez-Jurado, Luis Alberto LA
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
DES-Mutation: System for Exploring Links of Mutations and Diseases.
Scientific Reports
Kordopati, Vasiliki V; Salhi, Adil A; Razali, Rozaimi R; Radovanovic, Aleksandar A; Tifratene, Faroug F; Uludag, Mahmut M; Li, Yu Y; Bokhari, Ameerah A; AlSaieedi, Ahdab A; Bin Raies, Arwa A; Van Neste, Christophe C; Essack, Magbubah M; Bajic, Vladimir B VB
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.
Jimd Reports
Ng, Bobby G BG; Underhill, Hunter R HR; Palm, Lars L; Bengtson, Per P; Rozet, Jean-Michel JM; Gerber, Sylvie S; Munnich, Arnold A; Zanlonghi, Xavier X; Stevens, Cathy A CA; Kircher, Martin M; Nickerson, Deborah A DA; Buckingham, Kati J KJ; Josephson, Kevin D KD; Shendure, Jay J; Bamshad, Michael J MJ; , ; Freeze, Hudson H HH; Eklund, Erik A EA
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences.
Toxicological Research
Eom, Sang-Yong SY; Lim, Ji-Ae JA; Kim, Yong-Dae YD; Choi, Byung-Sun BS; Hwang, Myung Sil MS; Park, Jung-Duck JD; Kim, Heon H; Kwon, Ho-Jang HJ
Associations between Common Variants in Iron-Related Genes with Haematological Traits in Populations of African Ancestry.
Plos One
Gichohi-Wainaina, Wanjiku N WN; Tanaka, Toshiko T; Towers, G Wayne GW; Verhoef, Hans H; Veenemans, Jacobien J; Talsma, Elise F EF; Harryvan, Jan J; Boekschoten, Mark V MV; Feskens, Edith J EJ; Melse-Boonstra, Alida A
Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in Liver.
Molecular Biology And Evolution
Engelken, Johannes J; Espadas, Guadalupe G; Mancuso, Francesco M FM; Bonet, Nuria N; Scherr, Anna-Lena AL; Jímenez-Álvarez, Victoria V; Codina-Solà, Marta M; Medina-Stacey, Daniel D; Spataro, Nino N; Stoneking, Mark M; Calafell, Francesc F; Sabidó, Eduard E; Bosch, Elena E
Recurrent inactivating RASA2 mutations in melanoma.
Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.
Cell Reports
Fumagalli, Debora D; Gacquer, David D; Rothé, Françoise F; Lefort, Anne A; Libert, Frederick F; Brown, David D; Kheddoumi, Naima N; Shlien, Adam A; Konopka, Tomasz T; Salgado, Roberto R; Larsimont, Denis D; Polyak, Kornelia K; Willard-Gallo, Karen K; Desmedt, Christine C; Piccart, Martine M; Abramowicz, Marc M; Campbell, Peter J PJ; Sotiriou, Christos C; Detours, Vincent V
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
Nature Communications
Benyamin, Beben B; Esko, Tonu T; Ried, Janina S JS; Radhakrishnan, Aparna A; Vermeulen, Sita H SH; Traglia, Michela M; Gögele, Martin M; Anderson, Denise D; Broer, Linda L; Podmore, Clara C; Luan, Jian'an J; Kutalik, Zoltan Z; Sanna, Serena S; van der Meer, Peter P; Tanaka, Toshiko T; Wang, Fudi F; Westra, Harm-Jan HJ; Franke, Lude L; Mihailov, Evelin E; Milani, Lili L; Hälldin, Jonas J; Häldin, Jonas J; Winkelmann, Juliane J; Meitinger, Thomas T; Thiery, Joachim J; Peters, Annette A; Waldenberger, Melanie M; Rendon, Augusto A; Jolley, Jennifer J; Sambrook, Jennifer J; Kiemeney, Lambertus A LA; Sweep, Fred C FC; Sala, Cinzia F CF; Schwienbacher, Christine C; Pichler, Irene I; Hui, Jennie J; Demirkan, Ayse A; Isaacs, Aaron A; Amin, Najaf N; Steri, Maristella M; Waeber, Gérard G; Verweij, Niek N; Powell, Joseph E JE; Nyholt, Dale R DR; Heath, Andrew C AC; Madden, Pamela A F PA; Visscher, Peter M PM; Wright, Margaret J MJ; Montgomery, Grant W GW; Martin, Nicholas G NG; Hernandez, Dena D; Bandinelli, Stefania S; van der Harst, Pim P; Uda, Manuela M; Vollenweider, Peter P; Scott, Robert A RA; Langenberg, Claudia C; Wareham, Nicholas J NJ; , ; van Duijn, Cornelia C; Beilby, John J; Pramstaller, Peter P PP; Hicks, Andrew A AA; Ouwehand, Willem H WH; Oexle, Konrad K; Gieger, Christian C; Metspalu, Andres A; Camaschella, Clara C; Toniolo, Daniela D; Swinkels, Dorine W DW; Whitfield, John B JB
A highly recurrent RPS27 5'UTR mutation in melanoma.
Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Influence of diet, menstruation and genetic factors on iron status: a cross-sectional study in Spanish women of childbearing age.
International Journal Of Molecular Sciences
Blanco-Rojo, Ruth R; Toxqui, Laura L; López-Parra, Ana M AM; Baeza-Richer, Carlos C; Pérez-Granados, Ana M AM; Arroyo-Pardo, Eduardo E; Vaquero, M Pilar MP
Inter and intra ethnic variation of vitamin K epoxide reductase complex and cytochrome P450 4F2 genetic polymorphisms and their prevalence in South Indian population.
Toenail iron, genetic determinants of iron status, and the risk of glioma.
Cancer Causes & Control : Ccc
Anic, Gabriella M GM; Madden, Melissa H MH; Thompson, Reid C RC; Nabors, L Burton LB; Olson, Jeffrey J JJ; Larocca, Renato V RV; Browning, James E JE; Brockman, John D JD; Forsyth, Peter A PA; Egan, Kathleen M KM
Polymorphisms in iron homeostasis genes and urinary cadmium concentrations among nonsmoking women in Argentina and Bangladesh.
Environmental Health Perspectives
Rentschler, Gerda G; Kippler, Maria M; Axmon, Anna A; Raqib, Rubhana R; Ekström, Eva-Charlotte EC; Skerfving, Staffan S; Vahter, Marie M; Broberg, Karin K
Brain structure in healthy adults is related to serum transferrin and the H63D polymorphism in the HFE gene.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Jahanshad, Neda N; Kohannim, Omid O; Hibar, Derrek P DP; Stein, Jason L JL; McMahon, Katie L KL; de Zubicaray, Greig I GI; Medland, Sarah E SE; Montgomery, Grant W GW; Whitfield, John B JB; Martin, Nicholas G NG; Wright, Margaret J MJ; Toga, Arthur W AW; Thompson, Paul M PM
Four variants in transferrin and HFE genes as potential markers of iron deficiency anaemia risk: an association study in menstruating women.
Nutrition & Metabolism
Blanco-Rojo, Ruth R; Baeza-Richer, Carlos C; López-Parra, Ana M AM; Pérez-Granados, Ana M AM; Brichs, Anna A; Bertoncini, Stefania S; Buil, Alfonso A; Arroyo-Pardo, Eduardo E; Soria, Jose M JM; Vaquero, M Pilar MP
Heritability of serum iron measures in the hemochromatosis and iron overload screening (HEIRS) family study.
American Journal Of Hematology
McLaren, Christine E CE; Barton, James C JC; Eckfeldt, John H JH; McLaren, Gordon D GD; Acton, Ronald T RT; Adams, Paul C PC; Henkin, Leora F LF; Gordeuk, Victor R VR; Vulpe, Chris D CD; Harris, Emily L EL; Harrison, Barbara W BW; Reiss, Jacob A JA; Snively, Beverly M BM
A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.
British Journal Of Haematology
Constantine, Clare C CC; Anderson, Greg J GJ; Vulpe, Chris D CD; McLaren, Christine E CE; Bahlo, Melanie M; Yeap, Heng Lin HL; Gertig, Dorota M DM; Osborne, Nicholas J NJ; Bertalli, Nadine A NA; Beckman, Kenneth B KB; Chen, Victoria V; Matak, Pavel P; McKie, Andrew T AT; Delatycki, Martin B MB; Olynyk, John K JK; English, Dallas R DR; Southey, Melissa C MC; Giles, Graham G GG; Hopper, John L JL; Allen, Katrina J KJ; Gurrin, Lyle C LC
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
American Journal Of Human Genetics
Benyamin, Beben B; McRae, Allan F AF; Zhu, Gu G; Gordon, Scott S; Henders, Anjali K AK; Palotie, Aarno A; Peltonen, Leena L; Martin, Nicholas G NG; Montgomery, Grant W GW; Whitfield, John B JB; Visscher, Peter M PM
A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
Bmc Genetics
Harris, Sarah E SE; Fox, Helen H; Wright, Alan F AF; Hayward, Caroline C; Starr, John M JM; Whalley, Lawrence J LJ; Deary, Ian J IJ