Search

Your search keyword '"Koscinski, Isabelle"' showing total 38 results
Start Over Author "Koscinski, Isabelle"
38 results on '"Koscinski, Isabelle"'

5. Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters

Author

Coudert, Alicia, primary, Cazin, Caroline, additional, Amiri-Yekta, Amir, additional, Ben Mustapha, Selima Fourati, additional, Zouari, Raoudha, additional, Bessonat, Julien, additional, Zoghmar, Abdelali, additional, Clergeau, Antoine, additional, Metzler-Guillemain, Catherine, additional, Triki, Chema, additional, Lejeune, Hervé, additional, Sermondade, Nathalie, additional, Pipiras, Eva, additional, Prisant, Nadia, additional, Cedrin, Isabelle, additional, Koscinski, Isabelle, additional, Keskes, Leila, additional, Lestrade, Florence, additional, Hesters, Laetitia, additional, Rives, Nathalie, additional, Dorphin, Béatrice, additional, Guichet, Agnes, additional, Patrat, Catherine, additional, Dulioust, Emmanuel, additional, Feraille, Aurélie, additional, Robert, François, additional, Brouillet, Sophie, additional, Morel, Frédéric, additional, Perrin, Aurore, additional, Rougier, Nathalie, additional, Bieth, Eric, additional, Sorlin, Arthur, additional, Siffroi, Jean-Pierre, additional, Ben Khelifa, Mariem, additional, Boiterelle, Florence, additional, Hennebicq, Sylvianne, additional, Satre, Veronique, additional, Arnoult, Christophe, additional, Coutton, Charles, additional, Barbotin, Anne-Laure, additional, Thierry-Mieg, Nicolas, additional, Kherraf, Zine-Eddine, additional, and Ray, Pierre F., additional

Published
2023
Full Text
View/download PDF

9. Parental occupational exposure to solvents and risk of developing testicular germ cell tumors among sons: a French nationwide case-control study (TESTIS study).

Author

Guth, Margot, Lefevre, Marie, Pilorget, Corinne, Coste, Astrid, Ahmadi, Shukrullah, Danjou, Aurélie, Dananché, Brigitte, Praud, Delphine, Koscinski, Isabelle, Papaxanthos, Aline, Blagosklonov, Oxana, Fauque, Patricia, Pérol, Olivia, Schüz, Joachim, Bujan, Louis, Olsson, Ann, Fervers, Béatrice, and Charbotel, Barbara

Abstract

The article presents the discussion on etiology of testicular germ cell tumors (TGCT) suspected to be related to prenatal environmental risk factors. Topics include examining the association between parental occupational exposure to solvents and TGCT risk among their offspring; and impact of the fetal environment is also supported by large geographical variation in incidence and the evolution of TGCT incidence among migrant populations.

Published
2023
Full Text
View/download PDF

11. Additional file 1 of Minimal residual disease detection by multicolor flow cytometry in cryopreserved ovarian tissue from leukemia patients

Author

Zver, Tristan, Frontczak, Sophie, Poirot, Catherine, Rives-Feraille, Aur��lie, Leroy-Martin, Brigitte, Koscinski, Isabelle, Arbez-Gindre, Francine, Garnache-Ottou, Francine, Roux, Christophe, and Amiot, Clotilde

Subjects
body regions, endocrine system diseases, hemic and lymphatic diseases, fungi
Abstract

Additional file 1: CED and DIE calculation, marker selection for MRD detection by MFC in ovarian tissue

Published
2022
Full Text
View/download PDF

12. Fertility discussions and concerns in childhood cancer survivors, a systematic review for updated practice.

Author

El Alaoui‐Lasmaili, Karima, Nguyen‐Thi, Phi Linh, Demogeot, Nadine, Lighezzolo‐Alnot, Joëlle, Gross, Marie José, Mansuy, Ludovic, Chastagner, Pascal, and Koscinski, Isabelle

Subjects
FERTILITY, CANCER survivors, CHILDHOOD cancer, MEDICAL personnel, HUMAN fertility
Abstract

Purpose: To provide ways to improve the clinical practice of fertility preservation (FP) for children, adolescents, and young adults (AYA) with cancer. Design A systematic research of online databases was undertaken in March 2020 following the PRISMA criteria, including Medline and Web of Science. Results: Fifty‐nine articles were included. Surveys, interviews, and focus groups were used to collect data from patients, parents, and health care providers (HCPs). Four themes worth exploring emerged: (a) what do patients and professionals think of and know about FP? (b) what makes the fertility discussion happen or not? (c) what, retrospectively, led to FP being pursued or not? and (d) how do patients and HCPs feel about fertility issues? Conclusion: A minority of AYAs preserve their fertility (banking assay for 45% of boys and 23% of girls). Yet fertility concerns have a significant impact on the quality of life of young cancer survivors. Although recommendations and guidelines regarding FP are available internationally, there are no specific guidelines as to how to conduct fertility counseling for children and adolescents. Some barriers are not removable, such as a poor prognosis of an obvious severe disease, time constraints for starting treatment, and cultural and religious beliefs. In response to aspects hindering patients and families to be receptive to any discussion at the time of diagnosis, psychological support could reduce the level of emotional distress and help restore a degree of open‐mindedness to open a window for discussion. Moreover, as the lack of knowledge of professionals about fertility is frequently pointed out as a limiting factor for fertility discussion, reinforcing professional training regarding FP could be proposed to promote fertility discussion and eventually referral for FP. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

13. Multiorgan and Vascular Tropism of SARS-CoV-2

Author

Hartard, Cédric, primary, Chaqroun, Ahlam, additional, Settembre, Nicla, additional, Gauchotte, Guillaume, additional, Lefevre, Benjamin, additional, Marchand, Elodie, additional, Mazeaud, Charles, additional, Nguyen, Duc Trung, additional, Martrille, Laurent, additional, Koscinski, Isabelle, additional, Malikov, Sergueï, additional, and Schvoerer, Evelyne, additional

Published
2022
Full Text
View/download PDF

15. Fertility preservation and sperm donation in transgender individuals: The current situation within the French CECOS network

Author

Eustache, Florence, primary, Drouineaud, Véronique, additional, Mendes, Nicolas, additional, Delépine, Béatrice, additional, Dupont, Charlotte, additional, Mirallié, Sophie, additional, Papaxanthos, Aline, additional, Metzler‐Guillemain, Catherine, additional, Rives‐Feraille, Aurélie, additional, Magnan, Fanny, additional, Grèze, Cécile, additional, Hennebicq, Sylviane, additional, Koscinski, Isabelle, additional, Drapier, Hortense, additional, Frapsauce, Cynthia, additional, Mayeur, Anne, additional, Carlotti, Marie‐Ange, additional, Mons, Joffrey, additional, Schmitt, Françoise, additional, May‐Panloup, Pascale, additional, Blagosklonov, Oxana, additional, Brugnon, Florence, additional, Mestres, Stéphanie, additional, Cabry, Rosalie, additional, Fauque, Patricia, additional, Loup‐Cabaniols, Vanessa, additional, Ravel, Célia, additional, Lévy, Rachel, additional, Patrat, Catherine, additional, Thibault, Emmanuelle, additional, Frydman, Nelly, additional, Bujan, Louis, additional, Morinière, Catherine, additional, Ducrocq, Bérengère, additional, and Rives, Nathalie, additional

Published
2021
Full Text
View/download PDF

16. Ovarian Telomerase and Female Fertility

Author

Toupance, Simon, primary, Fattet, Anne-Julie, additional, Thornton, Simon N., additional, Benetos, Athanase, additional, Guéant, Jean-Louis, additional, and Koscinski, Isabelle, additional

Published
2021
Full Text
View/download PDF

18. Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia

Author

Dam, Anika H.D.M., Koscinski, Isabelle, Kremer, Jan A.M., Montou, Celine, Jaeger, Anne-Sophie, Oudakker, Astrid R., Tournaye, Herman, Charlet, Nicolas, Lagier-Tourenne, Clotilde, Bokhoven, Hans van, and Viville, Stephane

Subjects
Spermatogenesis -- Research, Gene mutations -- Research, Genetic research, Biological sciences
Abstract

The article presents a study on the consanguineous family of three affected brothers in whom they had identified a homozygous mutation in the spermatogenesis-specific gene SPATA16. Results of which showed that identification of other partners like SPATA16 can elucidate acrosome formation.

Published
2007

19. A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Author

Guéant, Jean-Louis, Chéry, Céline, Oussalah, Abderrahim, Nadaf, Javad, Coelho, David, Josse, Thomas, Flayac, Justine, Robert, Aurélie, Koscinski, Isabelle, Gastin, Isabelle, Filhine-Tresarrieu, Pierre, Pupavac, Mihaela, Brebner, Alison, Watkins, David, Pastinen, Tomi, Montpetit, Alexandre, Hariri, Fadi, Tregouët, David, Raby, Benjamin A, Chung, Wendy K., Morange, Pierre-Emmanuel, Froese, D. Sean, Baumgartner, Matthias R., Benoist, Jean-François, Ficicioglu, Can, Marchand, Virginie, Motorin, Yuri, Bonnemains, Chrystèle, Feillet, François, Majewski, Jacek, Rosenblatt, David S., GONNET, JULIE, ISITE - Isite LUE - - LUE2015 - ANR-15-IDEX-0004 - IDEX - VALID, Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), McGill University = Université McGill [Montréal, Canada], Institut de Cancérologie de Lorraine - Alexis Vautrin [Nancy] (UNICANCER/ICL), UNICANCER, Génétique épidémiologique et moléculaire des pathologies cardiovasculaires, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Harvard Medical School [Boston] (HMS), University of Missouri [Columbia] (Mizzou), University of Missouri System, Nutrition, obésité et risque thrombotique (NORT), Institut National de la Recherche Agronomique (INRA)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Aix Marseille Université (AMU), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), University hospital of Zurich [Zurich], Hôpital Robert Debré, Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), Perelman School of Medicine, University of Pennsylvania, Children’s Hospital of Philadelphia (CHOP ), Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Ingénierie, Biologie et Santé en Lorraine (IBSLor), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), IMPACT GEENAGE, ANR-15-IDEX-0004,LUE,Isite LUE(2015), McGill University, Institut de Cancérologie de Lorraine - Alexis Vautrin (ICL), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP], University of Missouri [Columbia], Aix Marseille Université (AMU)-Institut National de la Recherche Agronomique (INRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre recherche en CardioVasculaire et Nutrition (C2VN), University of Pennsylvania [Philadelphia], Université de Lorraine (UL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), ANR-15-IDEX-04-LUE,LUE,Lorraine Université d'Excellence(2016), and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

Subjects
MESH: Mutation, MESH: Metabolism, Inborn Errors, MESH: Pedigree, Science, MESH: Azacitidine, MESH: Peroxiredoxins, MESH: Carrier Proteins, MESH: Base Sequence, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Article, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], MESH: Epistasis, Genetic, lcsh:Science, MESH: Heterozygote, MESH: Humans, MESH: Alleles, nutritional and metabolic diseases, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, MESH: Male, MESH: Vitamin B 12, MESH: Enzyme Inhibitors, MESH: Fibroblasts, MESH: Family Health, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], lcsh:Q, MESH: Whole Genome Sequencing, MESH: Female
Abstract

To date, epimutations reported in man have been somatic and erased in germlines. Here, we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B12 metabolism that we name “epi-cblC”. The subjects are compound heterozygotes for a genetic mutation and for a promoter epimutation, detected in blood, fibroblasts, and sperm, at the MMACHC locus; 5-azacytidine restores the expression of MMACHC in fibroblasts. MMACHC is flanked by CCDC163P and PRDX1, which are in the opposite orientation. The epimutation is present in three generations and results from PRDX1 mutations that force antisense transcription of MMACHC thereby possibly generating a H3K36me3 mark. The silencing of PRDX1 transcription leads to partial hypomethylation of the epiallele and restores the expression of MMACHC. This example of epi-cblC demonstrates the need to search for compound epigenetic-genetic heterozygosity in patients with typical disease manifestation and genetic heterozygosity in disease-causing genes located in other gene trios., Inborn errors of vitamin B12 metabolism of the cblC class are caused by mutations in the MMACHC gene. Here, Guéant et al. report epi-cblC, a class of cblC in which patients are compound heterozygous for a genetic mutation and a secondary epimutation at the MMACHC locus.

Published
2018

20. Identification of a new recurrent Aurora kinase C mutation in both European and African men with macrozoospermia

Author

Ben Khelifa, Mariem, Coutton, Charles, Blum, Michael G.B., Abada, Farid, Harbuz, Radu, Zouari, Raoudha, Guichet, Agnès, May-Panloup, Pascale, Mitchell, Valérie, Rollet, Jacques, Triki, Chema, Merdassi, Ghaya, Vialard, François, Koscinski, Isabelle, Viville, Stéphane, Keskes, Leila, Soulie, Jean Pierre, Rives, Nathalie, Dorphin, Béatrice, Lestrade, Florence, Hesters, Laeticia, Poirot, Catherine, Benzacken, Brigitte, Jouk, Pierre-Simon, Satre, Véronique, Hennebicq, Sylviane, Arnoult, Christophe, Lunardi, Joël, and Ray, Pierre F.

Published
2012
Full Text
View/download PDF

21. Préservation de la fertilité dans le parcours transgenre: l'expérience de la Fédération française des centres d'étude et de conservation des oeufs et du sperme.

Author

Eustache, Florence, Ducrocq, Bérengère, Mendes, Nicolas, Dupont, Charlotte, Delépine, Béatrice, Mirallié, Sophie, Papaxanthos, Aline, Magnan, Fanny, Grèze, Cécile, Hennebicq, Sylviane, Koscinski, Isabelle, Drapier, Hortense, Frapsauce, Cynthia, Mayeur, Anne, Clarotti, Marie-Ange, Mons, Joffrey, Schmitt, Françoise, May-Panloup, Pascale, Blagosklonov, Oxana, and Brugnon, Florence

Subjects
TRANS women, TRANS men, TRANSGENDER people, FERTILITY preservation, HORMONE therapy
Abstract

Copyright of Médecine de la Reproduction is the property of John Libbey Eurotext Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2022
Full Text
View/download PDF

22. Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots

Author

ElInati, Elias, Kuentz, Paul, Redin, Claire, Jaber, Sara, Vanden Meerschaut, Frauke, Makarian, Joelle, Koscinski, Isabelle, Nasr-Esfahani, Mohammad H., Demirol, Aygul, Gurgan, Timur, Louanjli, Noureddine, Iqbal, Naeem, Bisharah, Mazen, Pigeon, Frédérique Carré, Gourabi, H., De Briel, Dominique, Brugnon, Florence, Gitlin, Susan A., Grillo, Jean-Marc, Ghaedi, Kamran, Deemeh, Mohammad R., Tanhaei, Somayeh, Modarres, Parastoo, Heindryckx, Björn, Benkhalifa, Moncef, Nikiforaki, Dimitra, Oehninger, Sergio C., De Sutter, Petra, Muller, Jean, and Viville, Stéphane

Published
2012
Full Text
View/download PDF

23. Reproduction Function in Male Patients With Bardet Biedl Syndrome

Author

Koscinski, Isabelle, primary, Mark, Manuel, additional, Messaddeq, Nadia, additional, Braun, Jean Jacques, additional, Celebi, Catherine, additional, Muller, Jean, additional, Zinetti-Bertschy, Anna, additional, Goetz, Nathalie, additional, Dollfus, Hélène, additional, and Rossignol, Sylvie, additional

Published
2020
Full Text
View/download PDF

25. The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population

Author

Dieterich, Klaus, Zouari, Raoudha, Harbuz, Radu, Vialard, François, Martinez, Delphine, Bellayou, Hanane, Prisant, Nadia, Zoghmar, Abdelali, Guichaoua, Marie Roberte, Koscinski, Isabelle, Kharouf, Mahmoud, Noruzinia, Mehrdad, Nadifi, Sellama, Sefiani, Abdelaziz, Lornage, Jacqueline, Zahi, Mohamed, Viville, Stéphane, Sèle, Bernard, Jouk, Pierre-Simon, Jacob, Marie-Christine, Escalier, Denise, Nikas, Yorgos, Hennebicq, Sylviane, Lunardi, Joël, and Ray, Pierre F.

Published
2009

27. Reproduction Function in Male Patients With Bardet Biedl Syndrome.

Author

Isabelle, Koscinski, Manuel, Mark, Nadia, Messaddeq, Jean-Jacques, Braun, Catherine, Celebi, Jean, Muller, Anna, Zinetti-Bertschy, Nathalie, Goetz, Hélène, Dollfus, Sylvie, Rossignol, Koscinski, Isabelle, Mark, Manuel, Messaddeq, Nadia, Braun, Jean-Jacques, Celebi, Catherine, Muller, Jean, Zinetti-Bertschy, Anna, Goetz, Nathalie, Dollfus, Hélène, and Rossignol, Sylvie

Subjects
CILIA & ciliary motion, SEMEN, POLYCYSTIC kidney disease, REPRODUCTION, MALE reproductive organs, RESEARCH, LAURENCE-Moon-Biedl syndrome, RESEARCH methodology, SEMEN analysis, EVALUATION research, MEDICAL cooperation, COMPARATIVE studies, MENTAL health surveys, MALE reproductive organ diseases, SPERMATOZOA, DISEASE complications
Abstract

Purpose: Bardet-Biedl syndrome (BBS) is a ciliopathy with a wide spectrum of symptoms due to primary cilia dysfunction, including genitourinary developmental anomalies as well as impaired reproduction, particularly in males. Primary cilia are known to be required at the following steps of reproduction function: (i) genitourinary organogenesis, (ii) in fetal firing of hypothalamo-pituitary axe, (iii) sperm flagellum structure, and (iv) first zygotic mitosis conducted by proximal sperm centriole. BBS phenotype is not fully understood.Methods: This study explored all steps of reproduction in 11 French male patients with identified BBS mutations.Results: BBS patients frequently presented with genitourinary malformations, such as cryptorchidism (5/11), short scrotum (5/8), and micropenis (5/8), but unexpectedly, with normal testis size (7/8). Ultrasonography highlighted epididymal cysts or agenesis of one seminal vesicle in some cases. Sexual hormones levels were normal in all patients except one. Sperm numeration was normal in 8 out of the 10 obtained samples. Five to 45% of sperm presented a progressive motility. Electron microscopy analysis of spermatozoa did not reveal any homogeneous abnormality. Moreover, a psychological approach pointed to a decreased self-confidence linked to blindness and obesity explaining why so few BBS patients express a child wish.Conclusions: Primary cilia dysfunction in BBS impacts the embryology of the male genital tract, especially epididymis, penis, and scrotum through an insufficient fetal androgen production. However, in adults, sperm structure does not seem to be impacted. These results should be confirmed in a greater BBS patient cohort, focusing on fertility. [ABSTRACT FROM AUTHOR]

Published
2020
Full Text
View/download PDF

28. Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Author

Guéant, Jean-Louis, primary, Chéry, Céline, additional, Oussalah, Abderrahim, additional, Nadaf, Javad, additional, Coelho, David, additional, Josse, Thomas, additional, Flayac, Justine, additional, Robert, Aurélie, additional, Koscinski, Isabelle, additional, Gastin, Isabelle, additional, Filhine-Tresarrieu, Pierre, additional, Pupavac, Mihaela, additional, Brebner, Alison, additional, Watkins, David, additional, Pastinen, Tomi, additional, Montpetit, Alexandre, additional, Hariri, Fadi, additional, Tregouët, David, additional, Raby, Benjamin A, additional, Chung, Wendy K., additional, Morange, Pierre-Emmanuel, additional, Froese, D. Sean, additional, Baumgartner, Matthias R., additional, Benoist, Jean-François, additional, Ficicioglu, Can, additional, Marchand, Virginie, additional, Motorin, Yuri, additional, Bonnemains, Chrystèle, additional, Feillet, François, additional, Majewski, Jacek, additional, and Rosenblatt, David S., additional

Published
2018
Full Text
View/download PDF

30. Improving preimplantation genetic diagnosis for Fragile X syndrome: two new powerful single-round multiplex indirect and direct tests

Author

Kieffer, Emmanuelle, primary, Nicod, Jean-Christophe, additional, Gardes, Nathalie, additional, Kastner, Claire, additional, Becker, Nicolas, additional, Celebi, Catherine, additional, Pirrello, Olivier, additional, Rongières, Catherine, additional, Koscinski, Isabelle, additional, Gosset, Philippe, additional, and Moutou, Céline, additional

Published
2015
Full Text
View/download PDF

31. Sperm cryopreservation in adolescents and young adults with cancer: results of the French national sperm banking network (CECOS)

Author

Daudin, Myriam, primary, Rives, Nathalie, additional, Walschaerts, Marie, additional, Drouineaud, Véronique, additional, Szerman, Ethel, additional, Koscinski, Isabelle, additional, Eustache, Florence, additional, Saïas-Magnan, Jacqueline, additional, Papaxanthos-Roche, Aline, additional, Cabry-Goubet, Rosalie, additional, Brugnon, Florence, additional, Le Lannou, Dominique, additional, Barthélémy, Claire, additional, Rigot, Jean-Marc, additional, Fréour, Thomas, additional, Berthaut, Isabelle, additional, Giscard d'Estaing, Sandrine, additional, Touati, Françoise, additional, Mélin-Blocquaux, Marie-Claude, additional, Blagosklonov, Oxana, additional, Thomas, Claire, additional, Benhamed, Mohamed, additional, Schmitt, Françoise, additional, Kunstmann, Jean-Marie, additional, Thonneau, Patrick, additional, and Bujan, Louis, additional

Published
2015
Full Text
View/download PDF

32. DPY19L2 Deletion as a Major Cause of Globozoospermia

Author

Koscinski, Isabelle, primary, ElInati, Elias, additional, Fossard, Camille, additional, Redin, Claire, additional, Muller, Jean, additional, Velez de la Calle, Juan, additional, Schmitt, Françoise, additional, Ben Khelifa, Mariem, additional, Ray, Pierre F., additional, Kilani, Zaid, additional, Barratt, Christopher L.R., additional, and Viville, Stéphane, additional

Published
2011
Full Text
View/download PDF

33. A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation

Author

Harbuz, Radu, primary, Zouari, Raoudha, additional, Pierre, Virginie, additional, Ben Khelifa, Mariem, additional, Kharouf, Mahmoud, additional, Coutton, Charles, additional, Merdassi, Ghaya, additional, Abada, Farid, additional, Escoffier, Jessica, additional, Nikas, Yorgos, additional, Vialard, François, additional, Koscinski, Isabelle, additional, Triki, Chema, additional, Sermondade, Nathalie, additional, Schweitzer, Thérèse, additional, Zhioua, Amel, additional, Zhioua, Fethi, additional, Latrous, Habib, additional, Halouani, Lazhar, additional, Ouafi, Marrakchi, additional, Makni, Mounir, additional, Jouk, Pierre-Simon, additional, Sèle, Bernard, additional, Hennebicq, Sylviane, additional, Satre, Véronique, additional, Viville, Stéphane, additional, Arnoult, Christophe, additional, Lunardi, Joël, additional, and Ray, Pierre F., additional

Published
2011
Full Text
View/download PDF

35. Improving preimplantation genetic diagnosis for Fragile X syndrome: two new powerful single-round multiplex indirect and direct tests

Author

Kieffer, Emmanuelle, Nicod, Jean-Christophe, Gardes, Nathalie, Kastner, Claire, Becker, Nicolas, Celebi, Catherine, Pirrello, Olivier, Rongières, Catherine, Koscinski, Isabelle, Gosset, Philippe, and Moutou, Céline

Abstract

Fragile X syndrome (FraX) is caused by the expansion of an unstable CGG repeat located in the Fragile X mental retardation 1 gene (FMR1) gene. Preimplantation genetic diagnosis (PGD) can be proposed to couples at risk of transmitting the disease, that is, when the female carries a premutation or a full mutation. We describe two new single-cell, single-round multiplex PCR for indirect and direct diagnosis of FraX on biopsied embryos. These tests include five unpublished, highly heterozygous simple sequence repeats, and the co-amplification of non-expanded CGG repeats for the direct test. Heterozygosity of the new markers ranged from 69 to 81%. The mean rate of non-informative marker included in the tests was low (26% and 23% for the new indirect and direct tests, respectively). This strategy allows offering a PGD for FraX to 96% of couples requesting it in our centre. A conclusive genotype was obtained in all cells with a rate of cells presenting an allele dropout ranging from 17% for the indirect test to 26% for the direct test. The new indirect test was applied for eight PGD cycles: 32 embryos were analysed, 9 were transferred and 3 healthy babies were born. By multiplexing these highly informative markers, robustness of the diagnosis is improved and the loss of potentially healthy embryos (because they are non-diagnosed or misdiagnosed) is limited. This may increase the chances of success of couples requesting a PGD for FraX, in particular, when premature ovarian insufficiency in premutated women leads to a reduced number of embryos available for analysis.

Published
2016
Full Text
View/download PDF

36. The acrosome: comparative morphology and development, contribution of a human familial globozoospermia case report

Author

Koscinski, Isabelle, Jaeger, Anne, Moutou, C?line, and Viville, St?phane

Abstract

Sperm acrosome is known to play a role in the fertilization of the majority of animal species studied. As a general rule, the acrosome appeared as soon as the fertilization occurred out of aquaeous phase. The biochemical content of acrosome as well as its release mode could suggest it is a simple lysosome. But this would by pass its important morphogenic role in spermiogenesis. Its development is strongly linked to the development of the microtubules manchette system.?Molecular data of animal mutagenesis contribute to the understanding of acrosome biogenesis mechanisms. ?Globozoospermia is a rare but severe human teratozoospermia, characterized by ejaculates entirely consisting of round-headed spermatozoa that lack an acrosome. It originates from a disturbed acrosome biogenesis. Recently, the genetic study of a familial globozoospermia led to highlight a homozygote mutation of the gene SPATA16, linked to the globozoospermic phenotype. This study contributes to the understanding of the mechanisms implied in human acrosome formation. L'acrosome spermatique est connu pour son r?le dans la f?condation dans la grande majorit? des esp?ces animales ?tudi?es. On peut estimer l'apparition de l'acrosome, contemporaine de l'av?nement d'une f?condation hors du milieu aquatique. La composition chimique de l'acrosome ainsi que son mode d'excr?tion pourraient le faire consid?rer comme un simple lysosome. Cela serait nier son important r?le morphog?nique dans la spermiogen?se. En effet, son d?veloppement est ?troitement li? ? celui de la manchette et de son syst?me microtubulaire. Gr?ce aux r?centes donn?es de mutagen?se animale, la biogen?se de l'acrosome d?voile pas ? pas ses m?canismes. La globozoospermie, t?ratozoospermie humaine rare mais cause d'infertilit? s?v?re, est caract?ris?e par des t?tes spermatiques globuleuses, d?pourvues d'acrosome. Elle est l'illustration d'un d?faut de biogen?se acrosomiale. R?cemment, l'?tude g?n?tique d'une famille pr?sentant des fr?res globozoospermiques et des fr?res fertiles a permis la mise en ?vidence d'une mutation du g?ne SPATA16 responsable ? l'?tat homozygote du ph?notype de globozoospermie. Cette ?tude ajoute une prot?ine ? la liste de celles impliqu?es dans la formation de l'acrosome humain.

Published
2008

37. [AFU and SALF recommendations for the evaluation of male infertility].

Author

Huyghe E, Boitrelle F, Methorst C, Mieusset R, Ray PF, Akakpo W, Koscinski I, Chalas C, Rives N, Plotton I, Robin G, El Osta R, Hennebicq S, Eustache F, Marcelli F, and Lejeune H

Subjects
Humans, Male, Infertility, Male diagnosis
Abstract

Background: The aim of these Association Française d'Urologie (AFU) and Société d'Andrologie de Langue Française (SALF) common recommendations are to provide practice guidelines for the French Urological and Andrological community regarding the evaluation of infertile men., Material and Methods: Literature search in PubMed using the keywords "male infertility", "diagnosis", "management" and "evaluation" limited to clinical articles in English and French prior to 1/01/2020. To inform the level of evidence, the HAS grading system (2013) was applied., Results: Concerning the evaluation of infertile men, the AFU and the SALF recommend : (1) a systematic interview exploring the family history, the fertility history of the man outside the couple, the patient's personal history that may have an impact on his fertility, lifestyle habits, treatments, symptoms and possible sexual difficulties of the couple; (2) a general physical examination to assess signs of hypogonadism and secondary sexual characters; (3) a scrotal physical examination performed by an urologist or andrologist to assess (i) the testes for volume and consistency, (ii) vas deferens and epididymes for total or partial absence or nodules, and (iii) presence of varicoceles; (4) Performing two semen analyses, according to World Health Organization guidelines, if the first one has at least one abnormaly; (5) a scrotal ultrasound as part of routine investigation, that can be completed with an endorectal pelvic ultrasound according to the clinic; (6) an endocrine evaluation with at least a Testosterone and FSH serum determination; (7) Karyotype analysis in infertile men with a sperm concentration ≤10 10 6 /mL; (8) assessment of Yq microdeletions in infertile men with a sperm concentration ≤1 10 6 /mL; (9) Cystic fibrosis transmembrane conductance regulator gene evaluation in case of suspicion for bilateral or unilateral congenital agenesis of vas deferens and seminal vesicles. The interest of tests analyzing DNA fragmentation (TUNEL, SCSA) is still under investigation., Conclusion: These guidelines can be applied in routine clinical practice in all infertile men., (Copyright © 2020 Elsevier Masson SAS. All rights reserved.)

Published
2021
Full Text
View/download PDF

38. APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.

Author

Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouët D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, and Rosenblatt DS

Subjects
Alleles, Azacitidine pharmacology, Base Sequence, Enzyme Inhibitors pharmacology, Family Health, Female, Fibroblasts drug effects, Fibroblasts metabolism, Heterozygote, Humans, Male, Metabolism, Inborn Errors metabolism, Oxidoreductases, Pedigree, Whole Genome Sequencing, Carrier Proteins genetics, Epistasis, Genetic, Metabolism, Inborn Errors genetics, Mutation, Peroxiredoxins genetics, Vitamin B 12 metabolism
Abstract

To date, epimutations reported in man have been somatic and erased in germlines. Here, we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B 12 metabolism that we name "epi-cblC". The subjects are compound heterozygotes for a genetic mutation and for a promoter epimutation, detected in blood, fibroblasts, and sperm, at the MMACHC locus; 5-azacytidine restores the expression of MMACHC in fibroblasts. MMACHC is flanked by CCDC163P and PRDX1, which are in the opposite orientation. The epimutation is present in three generations and results from PRDX1 mutations that force antisense transcription of MMACHC thereby possibly generating a H3K36me3 mark. The silencing of PRDX1 transcription leads to partial hypomethylation of the epiallele and restores the expression of MMACHC. This example of epi-cblC demonstrates the need to search for compound epigenetic-genetic heterozygosity in patients with typical disease manifestation and genetic heterozygosity in disease-causing genes located in other gene trios.

Published
2018
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results