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 to 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, October 10, 2024
Preprint - bioRxiv, 2. März 2022
Link to the publication and 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, Oktober 8, 2024
Link to the publication.Why geneticists should care about male infertility.
Veltman JA, Tüttelmann F
Nature Reviews Genetics, September 16, 2024
Link to the publication.Reproduction, genetics, and health - a topic with implications far beyond infertility.
Wyrwoll MJ, Tüttelmann F
Medizinische Genetik, September 6, 2024
Link to the publication.Reproductive genetics and health.
Wyrwoll MJ, Steingröver J
Medizinische Genetik, 6. September 2024
Link to the publication.Genetics of female and male infertility.
Friedrich C, Tüttelmann F
Medizinische Genetik, September 6, 2024
Link to the publication.How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.
Stallmeyer B, Dicke AK, Tüttelmann F
Andrology, August 9, 2024
Link to the publication.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, August 9, 2024
Link to the publication.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, August 2, 2024
Link to the 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, July 12, 2024
Preprint - bioRxiv, November 13, 2023
Link to the publication and 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, February 14, 2024
Link to the publication.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, January 30, 2024
Link to the publication.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, January 26, 2024
Link to the publication.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, January 2, 2024
Link to the publication.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, November 28, 2023
Link to the publication.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, October 30, 2023
Link to the 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, September 18, 2023
Link to the publication.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, August 18, 2023
Link to the publication.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, May 19, 2023
Link to the publication.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, April 22, 2023
Link to the publication.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, March 31, 2023
Link to the publication.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, February 23, 2023
Link to the publication.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, February 20, 2023
Link to the publication.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, February 17, 2023
Link to the publication.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, December 26, 2022
Link to the Publication.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, December 24, 2022
Link to the publication.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, November 29, 2022
Link to the publication.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, November 10, 2022
Link to the publication.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, September 16, 2022
Link to the publication.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, August 30, 2022
Link to the publication.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, June 8, 2022
Link to the publication.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, March 19, 2022
Link to the publication.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, March 16, 2022
Link to the publication.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, Feburary 1, 2022
Link to the publication.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, January 12, 2022
Link to the publication.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, January 10, 2022
Preprint - bioRxiv, February 27, 2021
Link to the publication and 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, December 16, 2021
Link to the publication.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, November 10, 2021
Link to the publication.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, September 21, 2021
Link to the publication.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, September 8, 2021
Preprint - medRxiv, May 4, 2021
Link to the publication and 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, June 19, 2021
Link to the publication.Genetic counseling and diagnostic guidelines for couples with infertility and/or recurrent miscarriage.
Wyrwoll MJ, Rudnik-Schöneborn S, Tüttelmann F
Medizinische Genetik, May 14, 2021
Link to the publication.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, May 13, 2021
Link to the publication.
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, May 7, 2021
Link to the publication.
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, April 20, 2021
Link to the publication.
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, April 15, 2021
Link to the publication.
Healthy ageing and spermatogenesis
Pohl E, Gromoll J, Wistuba J, Laurentino S
Reproduction, April 1, 2021
Link to the publication.
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, March 21, 2021
Link to the publication.
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, February 26, 2021
Link to the publication.
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, December 29, 2020
Link to the publication.
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, November 19, 2020
Link to the publication.
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, October 13, 2020
Link to the publication.
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, September 22, 2020
Link to the publication.
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, September 20, 2020
Link to the publication.
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, September 18, 2020
Preprint - bioRxiv, Februar 11, 2020
Link to the publication and 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, September 1, 2020
Link to the publication.
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, August 6, 2020
Preprint - medRxiv, February 13, 2020
Link to the publication and 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, August 3, 2020
Link to the publication.
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, July 15, 2020
Preprint - bioRxiv, October 15, 2019
Link to the publication and preprint.
Andrological diagnostics prior to treatment by assisted reproduction.
Köhn FM, Kliesch S, Pinggera GM, Schuppe HC, Tüttelmann F
Der Urologe, June 19, 2020
Link to the publication.
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, January 19, 2020
Link to the publication.
2019
The X chromosome and male infertility.
Vockel M, Riera-Escamilla A, Tüttelmann F, Krausz C
Human Genetics, December 24, 2019
Link to the publication.
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, December 19, 2020
Link to the publication.
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, November 4, 2019
Link to the publication.
Andrological diagnostics prior to treatment by assisted reproduction.
Köhn FM, Kliesch S, Pinggera GM, Schuppe HC, Tüttelmann F
Gynäkologische Endokrinologie, September 27, 2019
Link to the publication.
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, September 4, 2019
Link to the publication.
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, September 3, 2019
Link to the publication.
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, September 1, 2019
Link to the publication.
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, February 1, 2019
Link to the publication.
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, February 1, 2019
Link to the publication.
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, January 21, 2019
Link to the publication.
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, September 18, 2018
Link to the publication.
Disorders of spermatogenesis: perspectives for novel genetic diagnostics after 20 years of unchanged routine.
Tüttelmann F, Ruckert C, Röpke A
Medizinische Genetik, February 26, 2018
Link to the publication.
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, January 5, 2018
Link to the publication.
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, November 27, 2017
Link to the publication.
Aberrations of the X chromosome as cause of male infertility.
Röpke A, Tüttelmann F
European Journal of Endocrinology, November 1, 2017
Link to the publication.
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, April 11, 2017
Link to the publication.
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, September 15, 2016
Link to the publication.
Social freezing – the male perspective.
Gromoll J, Tüttelmann F, Kliesch S
Urologe, January, 2016
Link to the publication.
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, October 7, 2015
Link to the publication.
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, May 28, 2015
Link to the publication.
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, December 2, 2014
Link to the publication.
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, July 23, 2014
Link to the publication.
