Results 21 to 30 of about 28,399 (219)
Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations
Frontiers in Molecular Biosciences, 2021 Background: The lifespan of Marfan Syndrome (MFS) patients is shortened, especially in patients without early diagnostics, preventive treatment, and elective surgery. Clinically, MFS diagnosis is mainly dependent on phenotypes, but for children, sporadic Songchang Chen, Songchang Chen, Songchang Chen, Songchang Chen, Hongjun Fei, Hongjun Fei, Junyun Zhang, Junyun Zhang, Yiyao Chen, Yiyao Chen, Hefeng Huang, Hefeng Huang, Hefeng Huang, Daru Lu, Chenming Xu, Chenming Xu, Chenming Xu +16 moredoaj +1 more sourceCombined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis
Frontiers in Medicine, 2022 BackgroundGenetic kidney disease is a major cause of morbidity and mortality in neonates and end-stage renal disease (ESRD) in children and adolescents. Genetic diagnosis provides key information for early identification of congenital kidney disease and ...Min Xiao, Hua Shi, Jia Rao, Yanping Xi, Shuo Zhang, Junping Wu, Saijuan Zhu, Jing Zhou, Hong Xu, Caixia Lei, Xiaoxi Sun, Xiaoxi Sun +11 moredoaj +1 more sourceGenetic association mapping via evolution-based clustering of haplotypes. [PDF]
, 2007 Multilocus analysis of single nucleotide polymorphism haplotypes is a promising approach to dissecting the genetic basis of complex diseases. We propose a coalescent-based model for association mapping that potentially increases the power to detect ...Ioanna Tachmazidou, Maria De Iorio, Claudio J. Verzilli, De Iorio, Maria, De Iorio, M, Claudio J Verzilli, Verzilli, Claudio J, Tachmazidou, I, Tachmazidou, Ioanna, Verzilli, CJ +9 morecore +1 more sourceAnalysis of Fcγ receptor haplotypes in rheumatoid arthritis: FCGR3A remains a major susceptibility gene at this locus, with an additional contribution from FCGR3B [PDF]
, 2005 The Fcγ receptors play important roles in the initiation and regulation of many immunological and inflammatory processes, and genetic variants (FCGR) have been associated with numerous autoimmune and infectious diseases. The data in rheumatoid arthritis (Barrett , Jennifer H., Griffiths, B., Old, R.W., Boylston, Arthur W., Frederique Ponchel, Morgan, Ann W., Ali, Manir, Subramanian, Deepak, Ponchel, Frederique, Ann W Morgan, Jim I Robinson, Elizabeth A Jones, R Deva Situnayake, Boylston, A.W., Arthur W Boylston, Keyte, V.H., Isaacs, John D., Alexander F Markham, Manir Ali, Morgan, A.W., Robinson, J.I., Emery, P., Griffiths, Bridget, Barrett, J.H., John D Isaacs, Subramanian, D., Old, R. W., Ponchel, F., Deepak Subramanian, Jones, E. A. (Elizabeth A.), Paul Emery, Markham, Alexander F, Keyte, Viki H., Ali, M., Markham, A.F., Deva Situnayake, R, Bridget Griffiths, Jones, E.A., Viki H Keyte, Situnayake, R.D., Robert W Old, Jennifer H Barrett, Isaacs, J.D., Robinson, Jim I., Emery, Paul +44 morecore +1 more sourceInference of haplotypic phase and missing genotypes in polyploid organisms and variable copy number genomic regions [PDF]
, 2008 Background: The power of haplotype-based methods for association studies, identification of regions under selection, and ancestral inference, is well-established for diploid organisms.Coin, LJM, White, J, Balding, DJ, Shu-Yi Su, Balding David J, Coin, Lachlan J. M., Su Shu-Yi, White, Jonathan, Balding, David J., Su, Shu-Yi, Jonathan White, Su, SY, Lachlan J.M. Coin, White Jonathan, Coin Lachlan JM, David J. Balding +15 morecore +1 more sourceGenome-wide association analysis of grain iron and zinc in rice grown under agroclimatic sites with contrasting soil iron status
Frontiers in Plant ScienceIntroductionIron (Fe) content in soil can influence rice cultivation, inciting responses ranging from deficiency to toxicity. Fe toxicity is a major constraint, particularly in areas where acidic soils predominate. Sonu, Amit Kumar, Vikram Jeet Singh, Prolay Kumar Bhowmick, Shekharappa Nandakumar, Sunaina Yadav, Subbaiyan Gopala Krishnan, Ranjith Kumar Ellur, Haritha Bollinedi, Ashok Kumar Singh, Kunnummal Kurungara Vinod +10 moredoaj +1 more sourceHaplotype-based PPARD rs2267668/rs2016520/rs1053049 analysis.
, 2018 Haplotype-based PPARD rs2267668/rs2016520/rs1053049 analysis.Ewelina Lulińska-Kuklik (5698574), Zbigniew Jastrzębski (5698568), Marta Niewczas (5698583), Waldemar Moska (5698577), Agnieszka Maciejewska-Skrendo (5698586), Pawel Cieszczyk (142373), Krzysztof Ficek (5698580), Agata Leońska-Duniec (5698565), Aleksandra Jażdżewska (5698571) +8 morecore +1 more sourceAssociation between Vitamin D Receptor Gene Polymorphisms and Periodontal Bacteria: A Clinical Pilot Study
Biomolecules, 2022 Background: Periodontitis is an inflammatory disease caused by microorganisms involving the supporting tissues of the teeth. Gene variants may influence both the composition of the biofilm in the oral cavity and the host response.Concetta Cafiero, Cristina Grippaudo, Marco Dell’Aquila, Pasquale Cimmino, Antonio D’Addona, Paolo De Angelis, Maria Pia Ottaiano, Domenico Costagliola, Giulio Benincasa, Alessandra Micera, Luigi Santacroce, Raffaele Palmirotta +11 moredoaj +1 more sourceHaplotype-specific reactivity of the X2F6 mAb.
, 2016 (A) Microminipig PBMCs of each haplotype were stained with X2F6 or PT85A followed by anti-mouse IgG-FITC and analyzed by FCM. Lymphoid gate was used for the analysis. Solid lines represent the X2F6-stained patterns.Jerzy K. Kulski (3229236), Shino Ohshima (3229245), Asuka Miyamoto (3229239), Masafumi Tanaka (784557), Hidetoshi Inoko (3038), Hitoshi Kitagawa (3229251), Noriaki Hirayama (518010), Noriaki Imaeda (3229254), Yoshie Kametani (381802), Atsuko Shigenari (3229257), Tatsuya Matsubara (3229233), Asako Ando (3229242), Masaki Takasu (3229248), Hiroshi Kamiguchi (720529), Ryuji Suzuki (1641), Takashi Shiina (18405) +15 morecore +1 more sourceThe systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis [PDF]
, 2013 Systemic sclerosis (SSc) is a fibrotic autoimmune disease in which the genetic component plays an important role. One of the strongest SSc association signals outside the human leukocyte antigen (HLA) region corresponds to interferon (IFN) regulatory ...Schuerwegh, A. J., Alexander Kreuter (592), Herrick Ariane, Martín J., Carmona, F.D., Jacob M van Laar, Madelon C Vonk, Voskuyl AE, Denton C, Mónica Fernández-Castro, Martin Jose-Ezequiel, Hunzelmann Nicolas, Airó Paolo, Ariane Herrick (214049), Claudio Lunardi (12868), Paul Shiels (276244), Witte, T. de, Camps, M. T., Voskuyl Alexandre E., Distler, J.H., Riemekasten, Gabriela, H W Distler, Egurbide, María Victoria, Mónica Fernández-Castro (276238), Radstake TR, Camps, M.T., Egurbide, M. V., Simeón, C.P., Carreira, Patricia E., Airó, P., Kreuter, Alexander, Camps María Teresa, Airó, Paolo, Scorza, Raffaella, Martín, Javier, the Spanish Scleroderma Group, Nicolas Hunzelmann, Beltrán Emma, Madelon C. Vonk (213950), Torsten Witte, Javier Martín (2584444), Sáez-Comet, Luis, van Laar, J.M., María Teresa Camps, Callejas, J.L., Carmen Fonseca (214061), Airó P, Martin, J.E., Madhok, Rajan, Fernández Castro M, Kreuter, A., Herrick A, Carmen P. Simeón (5650816), Riemekasten Gabriela, Beltrán E, Radstake, T. R., Shiels, Paul G., Alexandre E. Voskuyl (213961), Carreira, P.E., Vonk, M.C., Lorenzo Beretta, Carreira PE, Hunzelmann N, Kreuter A, Patricia E. Carreira (276236), Beltrán, Emma, Carmona F. David, Rajan Madhok, Worthington J, Gabriela Riemekasten, Scorza R, Vonk MC, Simeón Carmen P., Witte, Torsten, Camps, María Teresa, Carmona FD, Herrick, A., Schuerwegh AJ, Paolo Airó, Distler, Jörg H W, Radstake Timothy R. D. J., Distler, J.H.W., Alexandre E Voskuyl, et al., José Luis Callejas (276237), Schuerwegh, Annemie J, Jane Worthington, Laar, Jacob M. van, Madhok R, Callejas, José Luis, Martín, J. E., Jacob M. van Laar (177818), Vonk Madelon C., Javier Martín, Beretta, Lorenzo, Emma Beltrá, Timothy R. D. J. Radstake (168224), Shiels Paul, Jörg H. W. Distler (3196062), Madhok Rajan, Callejas JL, Beltrán, E., Martin, Jose Ezequiel, Schuerwegh, A.J., Witte Torsten, Distler, J.H. W., Raffaella Scorza, Voskuyl, Alexandre E., Carmen P Simeón, Carmona, F David, Spanish Scleroderma, Claudio Lunardi, Rajan Madhok (23535), Group ", Voskuyl, A.E., Worthington, Jane, Egurbide, M.V., Jörg H W Distler, Saez-Comet, L., Callejas-Rubio, José Luis, Voskuyl, Alexandre E, van Laar JM, Simeón, Carmen P., Gabriela Riemekasten (276243), Denton, Christopher, Schuerwegh Annemie J., Camps MT, Paolo Airó (5650819), Witte T, Carmona, Francisco David, Denton, C., Lunardi, C., Fernández-Castro Mónica, Simeón, Carmen P, Riemekasten G, Luis Sáez-Comet (276239), Fonseca Carmen, Fernández-Castro, M., Herrick, Ariane, Timothy R D J Radstake, Scorza, R., Madhok, R., Denton Christopher, Fonseca, Carmen, Beretta L, Christopher Denton, Luis Sá Ez-Comet, Worthington, J., José Luis Callejas, Beretta, L., Annemie J Schuerwegh, Kreuter Alexander, Simeón CP, Nicolas Hunzelmann (213980), Lunardi Claudio, Jane Worthington (23502), Torsten Witte (32240), Emma Beltrán (276240), Lunardi, Claudio, Shiels, P., Carreira Patricia E., Fonseca C, Sáez Comet L, Shiels, Paul, Martín, J., Carmen Fonseca, F. David Carmona (276235), Riemekasten, G., Witte, T., Luis Sáez-Comet, Radstake, Timothy R. D. J., Jö Rg, van Laar, Jacob M., Egurbide María Victoria, Distler, Jörg H. W., Fernández-Castro, Monica, Radstake, T.R.D.J., van Laar Jacob M., Ariane Herrick, Emma Beltrán, Christopher Denton (276245), Alexander Kreuter, Martín Javier, Mó Nica Ferná Ndez-Castro, Shiels P, Vonk, Madelon C, Carreira, Patricia E, Fonseca, C., Paul Shiels, Callejas José Luis, Carmen P Simeó N, Martin JE, Lorenzo Beretta (214056), Egurbide MV, Distler Jörg H. W., Raffaella Scorza (214013), Vonk, Madelon C., María Victoria Egurbide, Hunzelmann, Nicolas, Carmona, F. David, Schuerwegh, Annemie J., Jose-Ezequiel Martin, Beretta Lorenzo, Distler, J. H., Patricia E Carreira, María Teresa Camps (276241), Scorza Raffaella, Annemie J. Schuerwegh (213966), Sáez-Comet Luis, F David Carmona, María Victoria Egurbide (276242), Laar, J.M. van, Hunzelmann, N., Worthington Jane, Martin, Jose-Ezequiel, van Laar, Jacob M, Spanish Scleroderma Group, Jose-Ezequiel Martin (213926), Distler JH, Radstake, Timothy R D J +219 morecore +1 more source
