Results 71 to 80 of about 58,203 (304)
Haplotypes exhibiting missing or deficit homozygosity.
, 2019 Table shows five loci exhibiting missing or deficit homozygosity on the Sscrofa11.1 genome build, four in the Landrace population (LA1-4), and one in the Duroc population (DU1).Martijn F. L. Derks (5348063), Eli Grindflek (4021472), Hanne Hamland (4507870), Beatrice F. Tan (6470621), Maren van Son (4021475), Barbara Harlizius (621706), Hendrik-Jan Megens (116285), Arne B. Gjuvsland (172936), Mirte Bosse (116283), Marcos S. Lopes (621705), Martien A. M. Groenen (116301) +10 morecore +1 more sourceRuns of homozygosity and testicular cancer risk [PDF]
, 2019 Background: Testicular germ cell tumour (TGCT) is highly heritable but > 50% of the genetic risk remains unexplained. Epidemiological observation of greater relative risk to brothers of men with TGCT compared to sons has long alluded to recessively ...West, C, Townsend, P. A., Loveday, C, Park, J. Y., Litchfield, K, Ingles, SA, Srihari, N. N., Beesley, S., Welch, R, Lu, Y. J., Albanes, D, Dunning, A. M., Cybulski, C., Neuhausen, SL, Bloomfield, D., Douglas, F., Stockdale, A, West, C., Huddart, R. A., Baybrooke, J, Douglas, F, Muir, K, Askill, C., Albanes, D., Benlloch, S, Brown, R, Kogevinas, M, Newcomb, LF, Broderick, P, Haiman, C. A., Al Olama, A. A., Appel, W, Benlloch, S., Lessel, D., Hamdy, FC, Stanford, JL, Batra, J., John, EM, Sud, A., Cannon-Albrigh, L., Donovan, JL, Hong, A, Sreenivasan, T, Madhavan, K, Mazhar, D., Winkler, M., Sarwar, N., Teixeira, M. R., Hennig, I, Brown, R., Money-Kryle, J., Stuart, N, Bertelli, G., Batra, J, Joffe, J., White, J, Faust, G., Mehra, R, Rogers, P, Schleutker, J, Faust, G, Lamont, A, De Ruyck, K, Tangen, CM, Maier, C., Menegaux, F., Dunning, AM, Chakraborti, P., Claessens, F., Pandha, H., Easton, DF, Rustin, G., Kim, J., Kaneva, R., Khaw, K-T, Howard, G., Hamilton, R. J., Clements, J, Usmani, N, Sorensen, KD, Orr, N., Sreenivasan, T., Hatton, M., Gilby, E., Gale, J., Stuart, N., Rosenstein, B. S., Giles, G. G., Highley, M, Holroyd, A, Kibel, AS, Holroyd, A., Dudakia, D, Cybulski, C, Wiklund, F., Lessel, D, Schumacher, F. R., Barber, J., Howard, G, Gronberg, H, Cannon-Albrigh, L, Huddart, RA, Madhavan, K., Wolk, A, Rathmell, A, Mucci, L., Eeles, R., Stevens, VL, Hrounda, D, Neal, DE, Dominguez, MG, Kogevinas, M., Razack, A, Cole, D., Levy, M, Money-Kryle, J, Park, JY, Pathak, S, Hamid, A, Hamilton, RJ, Travis, R. C., Leahy, M, Wolk, A., Peto, J, Henderson, B. E., Srihari, NN, Brock, C, Henderson, BE, Koutros, S, Baybrooke, J., Chowdhury, S., Penney, K. L., Mucci, L, Woby, S, Razack, A., Stanford, J. L., Easton, D. F., Kote-Jarai, Z., Gale, J, Donovan, J. L., Butt, M., Mehra, R., Claessens, F, Giles, GG, Kaneva, R, Seckl, M, Haiman, CA, Maehle, L, Teixeira, MR, Al Olama, AA, Simmonds, P, Neal, D. E., Savage, P., Cancel-Tassin, G, Houlston, RS, McAteer, J, Broderick, P., Nordestgaard, BG, Pashayan, N, Schumacher, FR, Woby, S., Brenner, H., Wiklund, F, Rathmell, A., Menegaux, F, Hennig, I., Roobol, MJ, Hong, A., Brock, C., Dudakia, D., Khaw, K. T., Hatton, M, Clements, J., Kibel, A. S., Turnbull, C., Humber, C., Vega, A, Eeles, R, Schleutker, J., Sorensen, K. D., Muir, K., Gapster, S., Berndt, S. I., Rogers, P., Bertelli, G, Barber, J, Orr, N, Lamont, A., Cancel-Tassin, G., Stockdale, A., John, E. M., Humber, C, Appel, W., Usmani, N., Stevens, V. L., Conti, D. V., Neuhausen, S. L., Travis, RC, Kelly, K., Newcomb, L. F., Mazhar, D, Koutros, S., Bloomfield, D, Clark, P, Chanock, S, Maier, C, Hamdy, F. C., Askill, C, Chanock, S., Gronberg, H., Sarwar, N, Beesley, S, Kote-Jarai, Z, Brenner, H, Reid, A., Conti, DV, Ruyck, K., Winkler, M, Hrounda, D., Tangen, C. M., Rustin, G, Litchfield, K., Chowdhury, S, Lu, Y-J, Clark, P., Gapster, S, Sud, A, Ingles, S. A., Pathak, S., Thibodeau, SN, Kim, J, Roobol, M. J., Maehle, L., Pandha, H, Peto, J., Highley, M., Savage, P, Welch, R., Berndt, SI, Hamid, A., Gago Dominguez, Manuela, Reid, A, Rosenstein, BS, Loveday, C., Thibodeau, S. N., Townsend, PA, Levy, M., Butt, M, Turnbull, C, Pashayan, N., Cole, D, White, J., McAteer, J., Nordestgaard, B. G., Penney, KL, Houlston, R. S., Seckl, M., Chakraborti, P, Joffe, J, Vega Gliemmo, Ana, Leahy, M., Gilby, E, Kelly, K, Simmonds, P. +263 morecore +5 more sourcesAutoMap is a high performance homozygosity mapping tool using next-generation sequencing data
Nature Communications, 2021 Homozygosity mapping is a useful tool for identifying candidate mutations in recessive conditions, however application to next generation sequencing data has been sub-optimal.Mathieu Quinodoz, Virginie G. Peter, Nicola Bedoni, Béryl Royer Bertrand, Katarina Cisarova, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Mehran Piran, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Ana Berta Sousa, Luisa Coutinho Santos, Andrea Superti-Furga, Carlo Rivolta +15 moredoaj +1 more sourceLarge‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation
FEBS Open Bio, EarlyView.Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco +11 morewiley +1 more sourceLinkage analysis and homozygosity mapping.
, 2015 (A) A family comprising six animals and one very distantly related case were available for the initial mapping of the disease locus. We performed parametric linkage analysis for a recessive trait in the family and homozygosity analysis across the three ...Anu K. Lappalainen (153956), Tarja S. Jokinen (211814), Kaisa Kyöstilä (158442), Eija H. Seppälä (158448), Michaela Drögemüller (220341), Karin H. Jäderlund (279370), Anna Oevermann (197449), Peter Wohlsein (410437), Wolfgang Baumgärtner (148965), Cecilia Rohdin (279378), Doreen Becker (247005), Pernilla Syrjä (158460), Gayathri Chandrasekar (251818), Juha Kere (11900), Elisabeth Dietschi (211839), Vidhya Jagannathan (13914), Cord Drögemüller (132266), Johann Lang (392351), Kerstin Hahn (289723), Hannes Lohi (102236), Diana Henke (171566), Tosso Leeb (81674), Frank Steffen (211837) +22 morecore +1 more sourceRuns of Homozygosity
, 2020 Realized inbreeding coefficients calculated from 3,954 SNPs using the RZooRoH model in three North American populations of sable antelope. Each bar represents an individual, displaying overall individual inbreeding coefficients (y-axis) and the ...Rebecca Gooley (8365797)core +1 more sourceImprovement of methods of creating hybrids of cabbage
Овощи России, 2019 Relevance One of the basic directions of the cabbage crop breeding is the creation of F1 hybrids with a complex of economically valuable traits. This process is difficult and time-consuming as to get pure lines must be within 6-12 years hold inbreeding ...Anna I. Mineykina, Lyudmila L. Bondareva, Darya V. Shumilina, Elena A. Domblides, Alexey V. Soldatenko +4 moredoaj +1 more sourcePrognostic value of HLA-I homozygosity in patients with non-small cell lung cancer treated with single agent immunotherapy
Journal for ImmunoTherapy of Cancer, 2020 Background We aimed to assess the impact of genomic human leukocyte antigen (HLA)-I/II homozygosity on the survival benefit of patients with unresectable locally advanced, metastatic non-small lung cancer treated by single-agent programmed cell death ...Mark Watson, Michael Millward, Samantha Bowyer, Afaf Abed, Leslie Calapre, Johnny Lo, Suzana Correia, Abha Chopra, Muhammad Adnan Khattak, Elin Solomonovna Gray +9 moredoaj +1 more sourceHomozygosity in piebald trait. [PDF]
Journal of Medical Genetics, 1987 A severely affected child born to consanguineous parents is interpreted as being a homozygote for the dominantly inherited piebald trait. The striking phenotypic difference between the parents and the child implies intermediate inheritance of this condition, and the family also illustrates that consanguinity should not always be taken to indicate ...M A, Hultén, M M, Honeyman, A J, Mayne, M J, Tarlow +3 moreopenaire +2 more sources
