2024
Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9.
Helderman NC, Yang T, Palles C, Terlouw D, Mei H, Vorderman RHP, Cats D, Gay MD, Jongmans MCJ, Ramdien A, van de Beek I, Eleveld TF, Green A, Hes FJ, van den Heuvel-Eibrink MM, Van Der Kelen A, Kliesch S, Kuiper RP, Lakeman IMM, Lashley L, Looijenga LHJ, Oud MS, Steingröver J, Tenenbaum-Rakover Y, Tops CM, Tüttelmann F, de Voer RM, Westra D, Wyrwoll MJ, Golubicki M, Antelo M, Bonjoch L, Terradas M, Valle L, Alexandrov LB, Morreau H, van Wezel T, Castellví-Bel S, Goldberg Y, Nielsen M
Preprint - medRxiv, 4. November 2024
Link zum Preprint.The conserved transcriptional program of metazoan male germ cells uncovers ancient origins of human infertility.
Correia RB, Almeida JM, Wyrwoll MJ, Julca I, Sobral D, Misra CS, Guilgur LG, Schuppe HC, Silva N, Prudêncio P, Nóvoa A, Leocádio AS, Bom J, Mallo M, Kliesch S, Mutwil M, Rocha LM, Tüttelmann F, Becker JD, Navarro-Costa P
eLife, 10. Oktober 2024
Preprint - bioRxiv, 2. März 2022
Link zur Publikation und zum Preprint.Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development.
Berglund A, Johannsen EB, Skakkebæk A, Chang S, Rohayem J, Laurentino S, Hørlyck A, Drue SO, Bak EN, Fedder J, Tüttelmann F, Gromoll J, Just J, Gravholt CH
Biology of Sex Differences, 8. Oktober 2024
Link zur Publikation.Why geneticists should care about male infertility.
Veltman JA, Tüttelmann F
Nature Reviews Genetics, 16. September 2024
Link zur Publikation.Reproduction, genetics, and health - a topic with implications far beyond infertility.
Wyrwoll MJ, Tüttelmann F
Medizinische Genetik, 6. September 2024
Link zur Publikation.Reproductive genetics and health.
Wyrwoll MJ, Steingröver J
Medizinische Genetik, 6. September 2024
Link zur Publikation.Genetics of female and male infertility.
Friedrich C, Tüttelmann F
Medizinische Genetik, 6. September 2024
Link zur Publikation.How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.
Stallmeyer B, Dicke AK, Tüttelmann F
Andrology, 9. August 2024
Link zur Publikation.Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility.
Stallmeyer B, Bühlmann C, Stakaitis R, Dicke AK, Ghieh F, Meier L, Zoch A, MacKenzie MacLeod D, Steingröver J, Okutman Ö, Fietz D, Pilatz A, Riera-Escamilla A, Xavier MJ, Ruckert C, Di Persio S, Neuhaus N, Gurbuz AS, Şalvarci A, Le May N, McEleny K, Friedrich C, van der Heijden G, Wyrwoll MJ, Kliesch S, Veltman JA, Krausz C, Viville S, Conrad DF, O'Carroll D, Tüttelmann F
Nature Communications, 9. August 2024
Link zur Publikation.NXT2 is the key player for nuclear RNA export in the human testis and critical for spermatogenesis.
Dicke AK, Ahmedani A, Ma L, van der Heijden GW, Koser SA, Krallmann C, Kalyon O, Xavier MJ, Veltman JA, Kliesch S, Neuhaus N, Kotaja N, Tüttelmann F, Stallmeyer B
Preprint - medRxiv, 2. August 2024
Link zum Preprint.AXDND1 is required to balance spermatogonial commitment and for sperm tail formation in mice and humans.
Houston BJ, Nguyen J, Merriner DJ, O'Connor AE, Lopes AM, Nagirnaja L, Friedrich C, Kliesch S, Tüttelmann F, Aston KI, Conrad DF, Hobbs RM, Dunleavy JE, O'Bryan MK
Cell Death & Disease, 12. Juli 2024
Preprint - bioRxiv, 13. November 2023
Link zur Publikation und zum Preprint.C19ORF84 connects piRNA and DNA methylation machineries to defend the mammalian germ line.
Zoch A, Konieczny G, Auchynnikava T, Stallmeyer B, Rotte N, Heep M, Berrens RV, Schito M, Kabayama Y, Schöpp T, Kliesch S, Houston B, Nagirnaja L, O'Bryan MK, Aston KI, Conrad DF, Rappsilber J, Allshire RC, Cook AG, Tüttelmann F, O'Carroll D
Molecular Cell, 14. Februar 2024
Link zur Publikation.Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Dortenzio V, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad DF, O'Donnell-Luria A, Talkowski ME, FitzPatrick DR, Boone PM
HGG Advances, 30. Januar 2024
Link zur Publikation.A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility.
Yalcin Z, Liang M, Abdelrazek IM, Friedrich C, Bareke E, Nabil A, Tüttelmann F, Majewski J, Abdalla E, Tan SL, Slim R
Journal of Assisted Reproduction and Genetics, 26. Januar 2024
Link zur Publikation.Human fertilization in vivo and in vitro requires the CatSper channel to initiate sperm hyperactivation.
Young S, Schiffer C, Wagner A, Patz J, Potapenko A, Herrmann L, Nordhoff V, Pock T, Krallmann C, Stallmeyer B, Röpke A, Kierzek M, Biagioni C, Wang T, Haalck L, Deuster D, Hansen JN, Wachten D, Risse B, Behre HM, Schlatt S, Kliesch S, Tüttelmann F, Brenker C, Strünker T
The Journal of Clinical Investigation, 2. Januar 2024
Link zur Publikation.2023
Cylicins are a structural component of the sperm calyx being indispensable for male fertility in mice and human.
Schneider S, Kovacevic A, Mayer M, Dicke AK, Arévalo L, Koser SA, Hansen JN, Young S, Brenker C, Kliesch S, Wachten D, Kirfel G, Strünker T, Tüttelmann F, Schorle H
eLife, 28. November 2023
Link zur Publikation.Pervasive relaxed selection on spermatogenesis genes coincident with the evolution of polygyny in gorillas.
Bowman JD, Silva N, Schüftan E, Almeida JM, Brattig-Correia R, Oliveira RA, Tüttelmann F, Enard D, Navarro-Costa P, Lynch VJ
Preprint - bioRxiv, 30. Oktober, 2023
Link zum Preprint.Improved phenotypic classification of male infertility to promote discovery of genetic causes.
Wyrwoll MJ, van der Heijden GW, Krausz C, Aston KI, Kliesch S, McLachlan R, Ramos L, Conrad DF, O'Bryan MK, Veltman JA, Tüttelmann F
Nature Reviews Urology, 18. September 2023
Link zur Publikation.Scrutinizing the human TEX genes in the context of human male infertility.
Sieper MH, Gaikwad AS, Fros M, Weber P, Di Persio S, Oud MS, Kliesch S, Neuhaus N, Stallmeyer B, Tüttelmann F, Wyrwoll MJ
Andrology, 18. August 2023
Link zur Publikation.Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility.
Dicke AK, Albrethsen J, Hoare BL, Wyrwoll MJ, Busch AS, Fietz D, Pilatz A, Bühlmann C, Juul A, Kliesch S, Gromoll J, Bathgate RAD, Tüttelmann F, Stallmeyer B
Human Reproduction, 19. Mai 2023
Link zur Publikation.WWC2 expression in the testis: Implications for spermatogenesis and male fertility.
Höffken V, Di Persio S, Laurentino S, Wyrwoll MJ, Terwort N, Hermann A, Röpke A, Oud MS, Wistuba J, Kliesch S, Pavenstädt HJ, Tüttelmann F, Neuhaus N, Kremerskothen J
FASEB Journal, 22. April 2023
Link zur Publikation.DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia.
Dicke AK, Pilatz A, Wyrwoll MJ, Punab M, Ruckert C, Nagirnaja L, Aston KI, Conrad DF, Di Persio S, Neuhaus N, Fietz D, Laan M, Stallmeyer B, Tüttelmann F
Communications Biology, 31. März 2023
Link zur Publikation.The second PI(3,5)P2 binding site in the S0 helix of KCNQ1 stabilizes PIP2-at the primary PI1 site with potential consequences on intermediate-to-open state transition.
Dellin M, Rohrbeck I, Asrani P, Schreiber JA, Ritter N, Glorius F, Wünsch B, Budde T, Temme L, Strünker T, Stallmeyer B, Tüttelmann F, Meuth SG, Spehr M, Matschke J, Steinbicker A, Gatsogiannis C, Stoll R, Strutz-Seebohm N, Seebohm G
Biological Chemistry, 23. Februar 2023
Link zur Publikation.Linking human Dead end 1 (DND1) variants to male infertility employing zebrafish embryos.
Westerich KJ, Reinecke S, Emich J, Wyrwoll MJ, Stallmeyer B, Meyer M, Oud MS, Fietz D, Pilatz A, Kliesch S, Reichman-Fried M, Tarbashevich K, Limon T, Stehling M, Friedrich C, Tüttelmann F, Raz E
Human Reproduction, 20. Februar 2023
Link zur Publikation.Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility.
Aprea I, Wilken A, Krallmann C, Nöthe-Menchen T, Olbrich H, Loges NT, Dougherty GW, Bracht D, Brenker C, Kliesch S, Strünker T, Tüttelmann F, Raidt J, Omran H
Frontiers in Genetics, 17. Februar 2023
Link zur Publikation.2022
Diverse monogenic subforms of human spermatogenic failure.
Nagirnaja L, Lopes AM, Charng WL, 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, Gonçalves J, Gurnett CA, Jørgensen N, Jezek D, Jungheim ES, Kliesch S, McLachlan RI, Omurtag KR, Pilatz A, Sandlow JI, 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, Tüttelmann F, Veltman JA, Almstrup K, Aston KI, Conrad DF
Nature Communications, 26. Dezember 2022
Link zur Publikation.Functional assessment of DMRT1 variants and their pathogenicity for isolated male infertility.
Emich J, Gaikwad AS, Stallmeyer B, Fietz D, Schuppe HC, Oud MS, Kliesch S, Gromoll J, Friedrich C, Tüttelmann F
Fertility and Sterility, 24. Dezember 2022
Link zur Publikation.Transcriptome analyses in infertile men reveal germ cell-specific expression and splicing patterns.
Siebert-Kuss LM, Krenz H, Tekath T, Wöste M, Di Persio S, Terwort N, Wyrwoll MJ, Cremers JF, Wistuba J, Dugas M, Kliesch S, Schlatt S, Tüttelmann F, Gromoll J, Neuhaus N, Laurentino S
Life Science Alliance, 29. November 2022
Link zur Publikation.Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility.
Cerván-Martín M, Tüttelmann F, Lopes AM, Bossini-Castillo L, Rivera-Egea R, Garrido N, Lujan S, Romeu G, Santos-Ribeiro S, Castilla JA, Carmen Gonzalvo M, Clavero A, Maldonado V, Vicente FJ, González-Muñoz S, Guzmán-Jiménez A, Burgos M, Jiménez R, Pacheco A, González C, Gómez S, Amorós D, Aguilar J, Quintana F, Calhaz-Jorge C, Aguiar A, Nunes J, Sousa S, Pereira I, Pinto MG, Correia S, Sánchez-Curbelo J, López-Rodrigo O, Martín J, Pereira-Caetano I, Marques PI, Carvalho F, Barros A, Gromoll J, Bassas L, Seixas S, Gonçalves J, Larriba S, Kliesch S, Palomino-Morales RJ, Carmona FD
Communications Biology, 10. November 2022
Link zur Publikation.The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans.
Wyrwoll MJ, Gaasbeek CM, Golubickaite I, Stakaitis R, Oud MS, Nagirnaja L, Dion C, Sindi EB, Leitch HG, Jayasena CN, Sironen A, Dicke AK, Rotte N, Stallmeyer B, Kliesch S, Grangeiro CHP, Araujo TF, Lasko P; Genetics of Male Infertility Initiative (GEMINI) consortium, D'Hauwers K, Smits RM, Ramos L, Xavier MJ, Conrad DF, Almstrup K, Veltman JA, Tüttelmann F, van der Heijden GW
American Journal of Human Genetics, 16. September 2022
Link zur Publikation.Analysis of copy number variation in men with non-obstructive azoospermia.
Wyrwoll MJ, Wabschke R, Röpke A, Wöste M, Ruckert C, Perrey S, Rotte N, Hardy J, Astica L, Lupiáñez DG, Wistuba J, Westernströer B, Schlatt S, Berman AJ, Müller AM, Kliesch S, Yatsenko AN, Tüttelmann F, Friedrich C
Andrology, 30. August 2022
Link zur Publikation.Genetic architecture of azoospermia-time to advance the standard of care.
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
European Urology, 8. Juni 2022
Link zur Publikation.A GWAS in idiopathic/unexplained infertile men detects a genomic region determining Follicle-stimulating hormone levels.
Schubert M, Pérez Lanuza L, Wöste M, Dugas M, Carmona FD, Palomino-Morales RJ, Rassam Y, Heilmann-Heimbach S, Tüttelmann F, Kliesch S, Gromoll J
The Journal of Clinical Endocrinology and Metabolism, 19. März 2022
Link zur Publikation.Protocol for developing a core outcome set for male infertility research: an international consensus development study.
Rimmer MP, Howie RA, Anderson RA, Barratt CLR, Barnhart KT, Beebeejaun Y, Bertolla RP, Bhattacharya S, Björndahl L, Bortoletto P, Brannigan RE, Cantineau AEP, Caroppo E, Collura BL, Coward K, Eisenberg ML, De Geyter C, Goulis DG, Henkel RR, Ho VNA, Hussein AF, Huyser C, Kadijk JH, Kamath MS, Khashaba S, Kobori Y, Kopeika J, Kucuk T, Luján S, Matsaseng TC, Mathur RS, McEleny K, Mitchell RT, Mol BW, Murage AM, Ng EHY, Pacey A, Perheentupa AH, Du Plessis S, Rives N, Sarris I, Schlegel PN, Shabbir M, Śmiechowski M, Subramanian V, Sunkara SK, Tarlarzis BC, Tüttelmann F, Vail A, van Wely M, Vazquez-Levin MH, Vuong LN, Wang AY, Wang R, Zini A, Farquhar CM, Niederberger C, Duffy JMN
Human Reproduction Open, 16. März 2022
Link zur Publikation.Effect of genetic variants of gonadotropins and their receptors on ovarian stimulation outcomes: a Delphi consensus.
Conforti A, Tüttelmann F, Alviggi C, Behre HM, Fischer R, Hu L, Polyzos NP, Chuderland D, Rama Raju GA, D'Hooghe T, Simoni M, Sunkara SK, Longobardi S
Frontiers in Endocrinology, 1. Februar 2022
Link zur Publikation.Human INHBB gene variant (c.1079T>C:p.Met360Thr) alters testis germ cell content, but does not impact fertility in mice.
Houston BJ, O'Connor AE, Wang D, Goodchild G, Merriner DJ, Luan H, Conrad DF, Nagirnaja L, Aston KI, Kliesch S, Wyrwoll MJ, Friedrich C, Tüttelmann F, Harrison C, O'Bryan MK, Walton K
Endocrinology, 12. Januar 2022
Link zur Publikation.A de novo paradigm for male infertility.
Oud MS, Smits RM, Smith HE, Mastrorosa FK, Holt GS, Houston BJ, de Vries PF, Alobaidi BKS, Batty LE, Ismail H, Greenwood J, Sheth H, Mikulasova A, Astuti GDN, Gilissen C, McEleny K, Turner H, Coxhead J, Cockell S, Braat DDM, Fleischer K, D'Hauwers KWM, Schaafsma E, GEMINI Consortium, Nagirnaja L, Conrad DF, Friedrich C, Kliesch S, Aston KI, Riera-Escamilla A, Krausz C, Gonzaga-Jauregui C, Santibanez-Koref M, Elliott DJ, Vissers LELM, Tüttelmann F, O'Bryan MK, Ramos L, Xavier MJ, van der Heijden GW, Veltman JA
Nature Communications, 10. Januar 2022
Preprint - bioRxiv, 27. Februar 2021
Link zur Publikation und zum Preprint.2021
Machine learning based prediction models in male reproductive health: Development of a proof-of-concept model for Klinefelter Syndrome in azoospermic patients.
Krenz H, Sansone A, Fujarski M, Krallmann C, Zitzmann M, Dugas M, Kliesch S, Varghese J, Tüttelmann F, Gromoll J
Andrology, 16. Dezember, 2021
Link zur Publikation.Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.
Wyrwoll MJ, van Walree ES, Hamer G, Rotte N, Motazacker MM, Meijers-Heijboer H, Alders M, Meißner A, Kaminsky E, Wöste M, Krallmann C, Kliesch S, Hunt TJ, Clark AT, Silber S, Stallmeyer B, Friedrich C, van Pelt AMM, Mathijssen IB, Tüttelmann F
Human Reproduction, 10. November 2021
Link zur Publikation.
Single-cell RNA-seq unravels alterations of the human spermatogonial stem cell compartment in patients with impaired spermatogenesis.
Di Persio S, Tekath T, Siebert-Kuss LM, Cremers JF, Wistuba J, Li X, Meyer zu Hörste G, Drexler HCA, Wyrwoll MJ, Tüttelmann F, Dugas M, Kliesch S, Schlatt S, Laurentino S, Neuhaus N
Cell Reports Medicine, 21. September 2021
Link zur Publikation.
A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston B, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Human Reproduction Update, 8. September 2021
Preprint - medRxiv, 4. Mai 2021
Link zur Publikation und zum Preprint.
Can unlikely neanderthal chloride channel CLC-2 gene variants provide insights in modern human infertility?
Jeworutzki E, Tüttelmann F, Rothenberg I, Pusch M, Schreiber JA, Kliesch S, Wünsch B, Strutz-Seebohm N, Seebohm G
Cellular Physiology and Biochemistry, 19. Juni 2021
Link zur Publikation.
Genetic counseling and diagnostic guidelines for couples with infertility and/or recurrent miscarriage.
Wyrwoll MJ, Rudnik-Schöneborn S, Tüttelmann F
Medizinische Genetik, 14. Mai 2021
Link zur Publikation.TRIM71 deficiency causes germ cell loss during mouse embryogenesis and is associated with human male infertility.
Torres-Fernández LA, Emich J, Port Y, Mitschka S, Wöste M, Schneider S, Fietz D, Oud MS, Di Persio S, Neuhaus N, Kliesch S, Hölzel M, Schorle H, Friedrich C, Tüttelmann F, Kolanus W
Frontiers in Cell and Developmental Biology, 13. Mai 2021
Link zur Publikation.
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure.
Hardy J, Wyrwoll MJ, Mcfadden W, Malcher A, Rotte N, Pollock NC, Munyoki S, Veroli MV, Houston BJ, Xavier MJ, Kasak L, Punab M, Laan M, Kliesch S, Schlegel P, Jaffe T, Hwang K, Vukina J, GEMINI Consortium, Brieño-Enríquez MA, Orwig K, Yanowitz J, Buszczak M, Veltman JA, Oud M, Nagirnaja L, Olszewska M, O'Bryan MK, Conrad DF, Kurpisz M, Tüttelmann F, Yatsenko AN
Human Genetics, 7. Mai 2021
Link zur Publikation.
Pituitary response to GnRH stimulation tests in different FSHB-211 G/T genotypes.
Sansone A, Schubert M, Tüttelmann F, Krallmann C, Zitzmann M, Kliesch S. Gromoll J
Human Reproduction, 20. April 2021
Link zur Publikation.
Lack of evidence for a role of PIWIL1 variants in human male infertility.
Oud MS, Volozonoka L, Friedrich C, Kliesch S, Nagirnaja L, Gilissen C, O'Bryan MK, McLachlan RI, Aston KI, Tüttelmann F, Conrad DF, Veltman JA
Cell, 15. April 2021
Link zur Publikation.
Healthy ageing and spermatogenesis.
Pohl E, Gromoll J, Wistuba J, Laurentino S
Reproduction, 1. April 2021
Link zur Publikation.
A global approach to addressing the policy, research and social challenges of male reproductive health.
Barratt CLR, De Jonge CJ, Anderson RA, Eisenberg ML, Garrido N, Rautakallio-Hokkanen S, Krausz C, Kimmins S, O'Bryan MK, Pacey AA, Tüttelmann F, Veltman JA
Human Reproduction Open, 21. März 2021
Link zur Publikation.
Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.
Aprea I, Raidt J, Höben IM, Loges NT, Nöthe-Menchen T, Pennekamp P, Olbrich H, Kaiser T, Biebach L, Tüttelmann F, Horvath J, Schubert M, Krallmann C, Kliesch S, Omran H
PLoS Genetics, 26. Februar 2021
Link zur Publikation.
2020
Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients.
Rudnik-Schöneborn S, Messner M, Vockel M, Wirleitner B, Pinggera GM, Witsch-Baumgartner M, Murtinger M, Kliesch S, Swoboda M, Sänger N, Zschocke J, Tüttelmann F
Human Reproduction, 29. Dezember 2020
Link zur Publikation.
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
Salas-Huetos A, Tüttelmann F, Wyrwoll MJ, Kliesch S, Lopes AM, Goncalves J, Boyden SE, Wöste M, Hotaling JM, GEMINI Consortium, Nagirnaja L, Conrad DF, Carrell DT, Aston KI
Human Genetics, 19. November 2020
Link zur Publikation.
A novel xeno-organoid approach: exploring the crosstalk between human iPSC-derived PGC-like and rat testicular cells.
Mall EM, Rotte N, Yoon J, Sandhowe-Klaverkamp R, Röpke A, Wistuba J, Hübner K, Schöler HR, Schlatt S
Molecular Human Reproduction, 13. Oktober 2020
Link zur Publikation.
European Academy of Andrology guidelines on Klinefelter syndrome: endorsing organization: European Society of Endocrinology.
Zitzmann M, Aksglaede L, Corona G, Isidori AM, Juul A, T'Sjoen G, Kliesch S, D'Hauwers K, Toppari J, Słowikowska-Hilczer J, Tüttelmann F, Ferlin A
Andrology, 22. September 2020
Link zur Publikation.
A germ cell‐specific ageing pattern in otherwise healthy men.
Laurentino S, Cremers J-F, Horsthemke B, Tüttelmann F, Czeloth K, Zitzmann M, Pohl E, Rahmann S, Schröder C, Berres S, Redmann K, Krallmann C, Schlatt S, Kliesch S, Gromoll J
Aging Cell, 20. September 2020
Link zur Publikation.
The Ca2+ channel CatSper is not activated by cAMP/PKA signaling but directly affected by chemicals used to probe the action of cAMP and PKA.
Wang T, Young S, Krenz H, Tüttelmann F, Röpke A, Krallmann C, Kliesch S, Zeng XH, Brenker C, Strünker T
The Journal of Biological Chemistry, 18. September 2020
Preprint - bioRxiv, 11. Februar 2020
Link zur Publikation und zum Preprint.
Testicular blood supply is altered in the 41,XX Y* Klinefelter syndrome mouse model.
Wistuba J, Beumer C, Warmeling A-S, Sanhowe-Klaverkamp R, Stypmann J, Kuhlmann M, Holtmeier R, Damm OS, Tüttelmann F, Gromoll J
Scientific Reports, 1. September 2020
Link zur Publikation.
The Male Fertility Gene Atlas: a web tool for collecting and integrating OMICs data in the context of male infertility.
Krenz H, Gromoll J, Darde T, Chalmel F, Dugas M, Tüttelmann F
Human Reproduction, 6. August 2020
Preprint - medRxiv, 13. Februar 2020
Link zur Publikation und zum Preprint.
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé, Aston KI, Baarends WM, Tüttelmann F
Genetics in Medicine, 3. August 2020
Link zur Publikation.
Bi-allelic mutations in M1AP are a frequent cause of meiotic arrest and severely impaired spermatogenesis leading to male infertility.
Wyrwoll MJ, Temel SG, Nagirnaja L, Oud MS, Lopes AM, van der Heijden GW, Heald JS, Rotte N, Wistuba J, Wöste M, Ledig S, Krenz H, Smits RM, Carvalho F, Gonçalves J, Fietz D, Türgenç B, Ergören MC, Çetinkaya M, Başar M, Kahraman S, McEleny K, Xavier MJ, Turner H, Pilatz A, Röpke A, Dugas M, Kliesch S, Neuhaus N, GEMINI Consortium, Aston KI, Conrad DF, Vetlman JA, Friedrich C, Tüttelmann F
American Journal of Human Genetics, 15. Juli 2020
Preprint - bioRxiv, 15. Oktober 2019
Link zur Publikation und zum Preprint.
Andrological diagnostics prior to treatment by assisted reproduction.
Köhn FM, Kliesch S, Pinggera GM, Schuppe HC, Tüttelmann F
Der Urologe, 19. Juni 2020
Link zur Publikation.
Rotational motion and rheotaxis of human sperm do not require functional CatSper channels and transmembrane Ca2+ signaling.
Schiffer C, Rieger S, Brenker C, Young S, Hamzeh H, Wachten D, Tüttelmann F, Röpke A, Kaupp U, Wang T, Wagner A, Krallmann C, Kliesch S, Fallnich C, Strünker T
EMBO Journal, 19. Januar 2020
Link zur Publikation.
2019
The X chromosome and male infertility.
Vockel M, Riera-Escamilla A, Tüttelmann F, Krausz C
Human Genetics, 24. Dezember 2019
Link zur Publikation.
SYCP2 translocation-mediated dysregulation and frameshift variants cause human male infertility.
Schilit SLP, Menon S, Friedrich C, Kammin T, Wilch E, Hanscom C, Jiang S, Kliesch S, Talkowski ME, Tüttelmann F, MacQueen AJ, Morton CC
American Journal of Human Genetics, 19. Dezember 2019
Link zur Publikation.
Mutations in the stromal antigen 3 (STAG3) gene cause male infertility due to meiotic arrest.
van der Bijl N, Röpke A, Biswas U, Wöste M, Jessberger R, Kliesch S, Friedrich C, Tüttelmann F
Human Reproduction, 4. November 2019
Link zur Publikation.
Andrological diagnostics prior to treatment by assisted reproduction.
Köhn FM, Kliesch S, Pinggera GM, Schuppe HC, Tüttelmann F
Gynäkologische Endokrinologie, 27. September 2019
Link zur Publikation.
Infertility due to azoospermia: differential diagnosis, genetic aspects, histopathology of the testis, and surgical sperm retrieval.
Schuppe HC, Pilatz A, Fietz D, Diemer T, Kohn FM, Tüttelmann F, Kliesch S
Gynäkologische Endokrinologie, 4. September 2019
Link zur Publikation.
Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes.
Fenz Araujo T, Friedrich C, Paiva Grangeiro CH, Martelli LR, Grzesiuk JG, Emich J, Wyrwoll MJ, Kliesch SK, Simões AL, Tüttelmann F
Andrology, 3. September 2019
Link zur Publikation.
The ReproGenomics Viewer: a mulit-omics and cross-species resource compatible with single-cell studies for the reproductive science community.
Darde TA, Lecluze E, Lardenois A, Stévant I, Alary N, Tüttelmann F, Collin O, Nel S, Jégou B, Rolland D, Chalmel F
Bioinformatics, 1. September 2019
Link zur Publikation.
Diagnosis and treatment before assisted reproducive treatments. Guideline of the DGGG, OEGGG and SGGG - Part 1: Basic assessment of the woman.
Toth B, Baston-Büst DM, Behre HM, Bielfeld A, Bohlmann M, Bühling K, Dittrich R, Göoeckenjan M, Hancke K, Kliesch S, Köhn FM, Krüssel J, Kuon R, Liebenthron J, Nawroth F, Nordhoff V, Pinggera GM, Rogenhofer N, Rudnik-Schöneborn S, Schuppe HC, Schüring A, Seifert-Klauss V, Strowitzki T, Tüttelmann F, Vomstein K, Wildt L, Wischmann T, Wunder D, Zschoke J
Geburtshilfe und Frauenheilkunde, 1. Februar 2019
Link zur Publikation.
Diagnosis and treatment before assisted reproducive treatments. Guideline of the DGGG, OEGGG and SGGG - Part 2: Hemostaseology, andrology, genetics and history of malignant disease.
Toth B, Baston-Büst DM, Behre HM, Bielfeld A, Bohlmann M, Bühling K, Dittrich R, Göoeckenjan M, Hancke K, Kliesch S, Köhn FM, Krüssel J, Kuon R, Liebenthron J, Nawroth F, Nordhoff V, Pinggera GM, Rogenhofer N, Rudnik-Schöneborn S, Schuppe HC, Schüring A, Seifert-Klauss V, Strowitzki T, Tüttelmann F, Vomstein K, Wildt L, Wischmann T, Wunder D, Zschoke J
Geburtshilfe und Frauenheilkunde, 1. Februar 2019
Link zur Publikation.
FSHB -211 G>T polymorphism as predictor for TESE success in patients with unexplained azoospermia.
Busch AS, Tüttelmann F, Cremers JF, Schubert M, Nordhoff V, Schüring AN, Zitzmann M, Gromoll JG, Kliesch S
Journal of Clinical Endocrinology and Metabolism, 21. Januar 2019
Link zur Publikation.
2018
Interest in, willingsness-to-pay for an willingness-to-recommend genetic testing for prostate cancer among affected men after radical prostatectomy.
Mayer M, Selig K, Tüttelmann F, Dinkel A, Gschwend JE, Herkommer K
Familial Cancer, 18. September 2018
Link zur Publikation.
Disorders of spermatogenesis: perspectives for novel genetic diagnostics after 20 years of unchanged routine.
Tüttelmann F, Ruckert C, Röpke A
Medizinische Genetik, 26. Februar 2018
Link zur Publikation.
Action of steroids and plant triterpenoids on CatSper Ca2+ channels in human sperm.
Brenker C, Schiffer C, Wagner IV, Tüttelmann F, Röpke F, Rennhack A, Kaupp UB and Strünker T
PNAS, 5. Januar 2018
Link zur Publikation.
2017
Is the FSHR 2039A>G variant associated with susceptibility to testicular germ cell cancer?
Bang AK, Busch AS, Almstrup K, Gromoll J, Kliesch S, Rajpert-De Meyts E, Skakkebaek NE, Juul A, Tüttelmann F, Jørgengsen N
Andrology, 27. November 2017
Link zur Publikation.
Aberrations of the X chromosome as cause of male infertility.
Röpke A, Tüttelmann F
European Journal of Endocrinology, 1. November 2017
Link zur Publikation.
A no-stop mutation in MAGEB4 is a possible cause of rare Xlinked azoospermia and oligozoospermia in a consanguineous Turkish family.
Okutman O, Muller J, Skory V, Garnier JM, Gaucherot A, Baert Y, Lamour V, Serdarogullari M, Gultomruk M, Röpke A, Kliesch S, Herbepin V, Aknin I, Benkhalifa M, Teletin M, Bakircioglu E, Goossens E, CharletBerguerand N, Bahceci M, Tüttelmann F, Viville S
Journal of Assisted Reproduction and Genetics, 11. April 2017
Link zur Publikation.
2016
The human RHOX gene cluster: target genes and functional analysis of gene variants in infertile men.
Borgmann J, Tüttelmann F, Dworniczak B, Röpke A, Song HW, Kliesch S, Wilkinson MF, Laurentio S, Gromoll J
Human Molecular Genetics, 15. September 2016
Link zur Publikation.
Social freezing – the male perspective.
Gromoll J, Tüttelmann F, Kliesch S
Urology, Januar 2016
Link zur Publikation.
2015
FSHB-211G>T stratification for follicle-stimulating hormone treatment of male infertility patients: making the case for a pharmacogenetic approach in genetic functional secondary hypogonadism.
Busch AS, Kliesch S, Tüttelmann F, Gromoll J
Andrology, 7. Oktober 2015
Link zur Publikation.
X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men.
Yatsenko AN, Georgiadis AP, Röpke A, Berman AJ, Jaffe T, Olszewska M, Westernströer B, Sanfilippo J, Kurpisz M, Rajkovic A, Yatsenko S, Kliesch S, Schlatt St, Tüttelmann F
New England Journal of Medicine, 28. Mai 2015
Link zur Publikation.
Azoospermia and ring chromosome 9-a case report.
Laursen RJ, Tüttelmann F, Humaidan P, Elbæk HO, Alsbjerg B, Röpke A
Journal of Assisted Reproduction and Genetics, 2. Dezember 2014
Link zur Publikation.
The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome.
Busch AS, Tüttelmann F, Zitzmann M, Kliesch S, Gromoll J
European Journal of Human Genetis, 23. Juli 2014
Link zur Publikation.
