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679 results on '"Rajpert‐De Meyts, E."'

5. Diverse monogenic subforms of human spermatogenic failure

Author

Nagirnaja, L, Lopes, AM, Charng, W-L, Miller, B, Stakaitis, R, Golubickaite, I, Stendahl, A, Luan, T, Friedrich, C, Mahyari, E, Fadial, E, Kasak, L, Vigh-Conrad, K, Oud, MS, Xavier, MJ, Cheers, SR, James, ER, Guo, J, Jenkins, TG, Riera-Escamilla, A, Barros, A, Carvalho, F, Fernandes, S, Goncalves, J, Gurnett, CA, Jorgensen, N, Jezek, D, Jungheim, ES, Kliesch, S, McLachlan, R, Omurtag, KR, Pilatz, A, Sandlow, J, Smith, J, Eisenberg, ML, Hotaling, JM, Jarvi, KA, Punab, M, Rajpert-De Meyts, E, Carrell, DT, Krausz, C, Laan, M, O'Bryan, MK, Schlegel, PN, Tuettelmann, F, Veltman, JA, Almstrup, K, Aston, K, Conrad, DF, Nagirnaja, L, Lopes, AM, Charng, W-L, Miller, B, Stakaitis, R, Golubickaite, I, Stendahl, A, Luan, T, Friedrich, C, Mahyari, E, Fadial, E, Kasak, L, Vigh-Conrad, K, Oud, MS, Xavier, MJ, Cheers, SR, James, ER, Guo, J, Jenkins, TG, Riera-Escamilla, A, Barros, A, Carvalho, F, Fernandes, S, Goncalves, J, Gurnett, CA, Jorgensen, N, Jezek, D, Jungheim, ES, Kliesch, S, McLachlan, R, Omurtag, KR, Pilatz, A, Sandlow, J, Smith, J, Eisenberg, ML, Hotaling, JM, Jarvi, KA, Punab, M, Rajpert-De Meyts, E, Carrell, DT, Krausz, C, Laan, M, O'Bryan, MK, Schlegel, PN, Tuettelmann, F, Veltman, JA, Almstrup, K, Aston, K, and Conrad, DF

Abstract

Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically incurable. Defining the genetic basis of NOA has proven challenging, and the most advanced classification of NOA subforms is not based on genetics, but simple description of testis histology. In this study, we exome-sequenced over 1000 clinically diagnosed NOA cases and identified a plausible recessive Mendelian cause in 20%. We find further support for 21 genes in a 2-stage burden test with 2072 cases and 11,587 fertile controls. The disrupted genes are primarily on the autosomes, enriched for undescribed human "knockouts", and, for the most part, have yet to be linked to a Mendelian trait. Integration with single-cell RNA sequencing data shows that azoospermia genes can be grouped into molecular subforms with synchronized expression patterns, and analogs of these subforms exist in mice. This analysis framework identifies groups of genes with known roles in spermatogenesis but also reveals unrecognized subforms, such as a set of genes expressed across mitotic divisions of differentiating spermatogonia. Our findings highlight NOA as an understudied Mendelian disorder and provide a conceptual structure for organizing the complex genetics of male infertility, which may provide a rational basis for disease classification.

Published
2022

14. Variant PNLDC1, Defective piRNA Processing, and Azoospermia

Author

Nagirnaja, L., Mørup, N., Nielsen, J.E., Stakaitis, R., Golubickaite, I., Oud, M.S., Winge, S.B., Carvalho, F., Aston, K.I., Khani, F., Heijden, G.W. van der, Marques, C.J., Skakkebaek, N.E., Rajpert-De Meyts, E., Schlegel, P.N., Jørgensen, N., Veltman, J.A., Lopes, A.M., Conrad, D.F., Almstrup, K., Nagirnaja, L., Mørup, N., Nielsen, J.E., Stakaitis, R., Golubickaite, I., Oud, M.S., Winge, S.B., Carvalho, F., Aston, K.I., Khani, F., Heijden, G.W. van der, Marques, C.J., Skakkebaek, N.E., Rajpert-De Meyts, E., Schlegel, P.N., Jørgensen, N., Veltman, J.A., Lopes, A.M., Conrad, D.F., and Almstrup, K.

Abstract

Item does not contain fulltext, BACKGROUND: P-element-induced wimpy testis (PIWI)-interacting RNAs (piRNAs) are short (21 to 35 nucleotides in length) and noncoding and are found almost exclusively in germ cells, where they regulate aberrant expression of transposable elements and postmeiotic gene expression. Critical to the processing of piRNAs is the protein poly(A)-specific RNase-like domain containing 1 (PNLDC1), which trims their 3' ends and, when disrupted in mice, causes azoospermia and male infertility. METHODS: We performed exome sequencing on DNA samples from 924 men who had received a diagnosis of nonobstructive azoospermia. Testicular-biopsy samples were analyzed by means of histologic and immunohistochemical tests, in situ hybridization, reverse-transcriptase-quantitative-polymerase-chain-reaction assay, and small-RNA sequencing. RESULTS: Four unrelated men of Middle Eastern descent who had nonobstructive azoospermia were found to carry mutations in PNLDC1: the first patient had a biallelic stop-gain mutation, p.R452Ter (rs200629089; minor allele frequency, 0.00004); the second, a novel biallelic missense variant, p.P84S; the third, two compound heterozygous mutations consisting of p.M259T (rs141903829; minor allele frequency, 0.0007) and p.L35PfsTer3 (rs754159168; minor allele frequency, 0.00004); and the fourth, a novel biallelic canonical splice acceptor site variant, c.607-2A→T. Testicular histologic findings consistently showed error-prone meiosis and spermatogenic arrest with round spermatids of type Sa as the most advanced population of germ cells. Gene and protein expression of PNLDC1, as well as the piRNA-processing proteins PIWIL1, PIWIL4, MYBL1, and TDRKH, were greatly diminished in cells of the testes. Furthermore, the length distribution of piRNAs and the number of pachytene piRNAs was significantly altered in men carrying PNLDC1 mutations. CONCLUSIONS: Our results suggest a direct mechanistic effect of faulty piRNA processing on meiosis and spermatogenesis in men, ultima

Published
2021

22. Maintaining success, reducing treatment burden, focusing on survivorship: highlights from the third European consensus conference on diagnosis and treatment of germ-cell cancer

Author

Beyer, J., Albers, P., Altena, R., Aparicio, J., Bokemeyer, C., Busch, J., Cathomas, R., Cavallin-Stahl, E., Clarke, N. W., Claen, J., Cohn-Cedermark, G., Dahl, A. A., Daugaard, G., De Giorgi, U., De Santis, M., De Wit, M., De Wit, R., Dieckmann, K. P., Fenner, M., Fizazi, K., Flechon, A., Fossa, S. D., Germá Lluch, J. R., Gietema, J. A., Gillessen, S., Giwercman, A., Hartmann, J. T., Heidenreich, A., Hentrich, M., Honecker, F., Horwich, A., Huddart, R. A., Kliesch, S., Kollmannsberger, C., Krege, S., Laguna, M. P., Looijenga, L. H. J., Lorch, A., Lotz, J. P., Mayer, F., Necchi, A., Nicolai, N., Nuver, J., Oechsle, K., Oldenburg, J., Oosterhuis, J. W., Powles, T., Rajpert-De Meyts, E., Rick, O., Rosti, G., Salvioni, R., Schrader, M., Schweyer, S., Sedlmayer, F., Sohaib, A., Souchon, R., Tandstad, T., Winter, C., and Wittekind, C.

Published
2013
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35. European Academy of Andrology (EAA) guidelines on investigation, treatment and monitoring of functional hypogonadism in males

Author

Corona, Giovanni, primary, Goulis, Dimitrios G., additional, Huhtaniemi, Ilpo, additional, Zitzmann, Michael, additional, Toppari, Jorma, additional, Forti, Gianni, additional, Vanderschueren, Dirk, additional, Wu, Frederick C., additional, Corona, G., additional, Goulis, D.G., additional, Forti, G., additional, Behre, H.M., additional, Punab, M., additional, Toppari, J., additional, Krausz, C., additional, Rajpert‐De Meyts, E, additional, Tüttelmann, F, additional, Isidori, A.M., additional, Ruiz‐Castane, E, additional, Jezek, D, additional, Kopa, Z, additional, and Simoni, M., additional

Published
2020
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42. Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independentof Y-chromosomal background

Author

Krausz, C., Giachini, C., Xue, Y., O'Bryan, M.K., Gromoll, J., Rajpert-de Meyts, E., Oliva, R., Aknin-Seifer, I., Erdei, E., Jorgensen, N., Simoni, M., Ballesca, J.L., Levy, R., Balercia, G., Piomboni, P., Nieschlag, E., Forti, G., McLachlan, R., and Tyler-Smith, C.

Subjects
Chromosome deletion -- Demographic aspects, Chromosome deletion -- Research, Genetic variation -- Demographic aspects, Genetic variation -- Research, Y chromosome -- Abnormalities, Health
Published
2009

49. Nordic consensus on treatment of undescended testes

Author

Martin Ritzén, E., Bergh, A, Bjerknes, R, Christiansen, P, Cortes, D, Haugen, S E, Jörgensen, N, Kollin, C, Lindahl, S, Läckgren, G, Main, K M, Nordenskjöld, A, Rajpert-De Meyts, E, Söder, O, Taskinen, S, Thorsson, A, Thorup, J, Toppari, J, and Virtanen, H

Published
2007

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