Publications

2022
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.
Human spermatogonial stem cells and their niche in male (in)fertility: novel concepts from single-cell RNA-sequencing.
Di Persio S, Neuhaus N
Human Reproduction, November 21, 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.
HPLC fluorescence assay for measuring the activity of diacylglycerol lipases and the action of inhibitors thereof.
Depmeier T, Lange T, Hanekamp W, Strünker T, Lehr M
Analytical Biochemistry, September 13, 2022
Link to the publication.
Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.
Biebach L, Cindrić S, Koenig J, Aprea I, Dougherty GW, Raidt J, Bracht D, Ruppel R, Schreiber J, Hjeij R, Olbrich H, Omran H.
American Journal of Respiratory Cell and Molecular Biology, September 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.
The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN.
Raidt J, Maitre B, Pennekamp P, Altenburg J, Anagnostopoulou P, Armengot M, Bloemsma LD, Boon M, Borrelli M, Brinkmann F, Carr SB, Carroll MP, Castillo-Corullón S, Coste A, Cutrera R, Dehlink E, Destouches DMS, Di Cicco ME, Dixon L, Emiralioglu N, Erdem Eralp E, Haarman EG, Hogg C, Karadag B, Kobbernagel HE, Lorent N, Mall MA, Marthin JK, Martinu V, Narayanan M, Ozcelik U, Peckham D, Pifferi M, Pohunek P, Polverino E, Range S, Ringshausen FC, Robson E, Roehmel J, Rovira-Amigo S, Santamaria F, Schlegtendal A, Szépfalusi Z, Tempels P, Thouvenin G, Ullmann N, Walker WT, Wetzke M, Yiallouros P, Omran H, Nielsen KG
ERJ Open Research, August 15, 2022
Link to the publication.
Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure.
Riera-Escamilla A, Vockel M, Nagirnaja L, Xavier MJ, Carbonell A, Moreno-Mendoza D, Pybus M, Farnetani G, Rosta V, Cioppi F, Friedrich C, Oud MS, van der Heijden GW, Soave A, Diemer T, Ars E, Sánchez-Curbelo J, Kliesch S, O'Bryan MK, Ruiz-Castañe E; GEMINI Consortium, Azorín F, Veltman JA, Aston KI, Conrad DF, Tüttelmann F, Krausz C
The American Journal of Human Genetics, August 4, 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.
Early testicular maturation is sensitive to depletion of spermatogonial pool in sickle cell disease.
Benninghoven-Frey KM, Neuhaus N, Lahtinen AK, Krallmann C, Portela JMD, Jarisch A, Nordhoff V, Soave A, Ba Omar HAM, Sundin M, Langenskiöld C, Kliesch S, Stukenborg JB, Jahnukainen K
Haematologica, April 1, 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.
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
Preprint - bioRxiv, March 2, 2022
Link to the preprint.
Limitations of nasal nitric oxide measurement for diagnosis of primary ciliary dyskinesia with normal ultrastructure.
Raidt J, Krenz H, Tebbe J, Große-Onnebrink J, Olbrich H, Loges NT, Biebach L, Schmalstieg C, Keßler C, Wallmeier J, Dworniczak B, Pennekamp P, Dugas M, Werner C, Omran H
Annals of the American Thoracic Society, February 23, 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, February 1, 2022
Link to the publication.
Emerging mechanisms and dynamics of three-dimensional genome organisation at zygotic genome activation.
Ing-Simmons E, Rigau M, Vaquerizas JM
Current Opinion in Cell Biology, January 20, 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.
Zebrafish transposable elements show extensive diversification in age, genomic distribution, and developmental expression.
Chang NC, Rovira Q, Wells JN, Feschotte C, Vaquerizas JM
Genome Research, January 5, 2022
Link to the publication.
2021
FSHB genotype identified as a relevant diagnostic parameter revealed by cluster analysis of men with idiopathic infertility.
Krenz H, Sansone A, Kliesch S, Gromoll J, Schubert M
Frontiers in Endocrinology, December 21, 2021
Link to the publication.
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.
Simultaneous recording of multiple cellular signaling events by frequency- and spectrally-tuned multiplexing of fluorescent probes.
Kierzek M, Deal PE, Miller EW, Mukherjee S, Wachten D, Baumann A, Kaupp UB, Strünker T, Brenker C
eLife, December 3, 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.
Heading towards a dead end: The role of DND1 in germ line differentiation of human iPSCs.
Mall EM, Lecanda A, Drexler HCA, Raz E, Schöler HR, Schlatt S
PLoS One, October 15, 2021
Link to the publication.
Limited spermatogenic differentiation of testicular tissue from prepubertal marmosets (Callithrix jacchus) in an in vitro organ culture system.
Sharma S, Sandhowe-Klaverkamp R, Wistuba J, Schlatt S
Molecular and Cellular Endocrinology, October 9, 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 9, 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.
The antidepressant Sertraline inhibits CatSper Ca 2+ channels in human sperm.
Rahban R, Rehfeld A, Schiffer C, Brenker C, Egeberg Palme DL, Wang T, Lorenz J, Almstrup K, Skakkebaek NE, Strünker T, Nef S
Human Reproduction, September 6, 2021
Link to the publication.
Whole-genome methylation analysis of testicular germ cells from cryptozoospermic men points to recurrent and functionally relevant DNA methylation changes.
Di Persio S, Leitão E, Wöste M, Tekath T, Cremers JF, Dugas M, Li X, Meyer zu Hörste G, Kliesch S, Laurentino S, Neuhaus N, Horsthemke B
Clinical Epigenetics, August 21, 2021
Link to the publication.
The action of reproductive fluids and contained steroids, prostaglandins, and Zn 2+ on CatSper Ca 2+ channels in human sperm.
Jeschke JK, Biagioni C, Schierling T, Wagner IV, Börgel F, Schepmann D, Schüring A, Kulle AE, Holterhus PM, von Wolff M, Wünsch B, Nordhoff V, Strünker T, Brenker C
Frontiers in Cell and Developmental Biology, July 26, 2021
Link to the publication.
Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.
Wallmeier J, Bracht D, Alsaif HS, Dougherty GW, Olbrich H, Cindric S, Dzietko M, Heyer C, Teig N, Thiels C, Faqeih E, Al-Hashim A, Khan S, Mogarri I, Almannai M, Al Otaibi W, Alkuraya FS, Koerner-Rettberg C, Omran H
American Journal of Human Genetics, July 1, 2021
Link to the publication.
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.
Z-scores for comparative analyses of spermatogonial numbers throughout human development.
Funke M, Yang Y, Lahtinen A, Benninghoven-Frey K, Kliesch S, Neuhaus N, Stukenborg JB, Jahnukainen K
Fertility and Sterility, May 8, 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.
Zebrafish dazl regulates cystogenesis and germline stem cell specification during the primordial germ cell to germline stem cell transition.
Bertho S, Clapp M, Banisch TU, Bandemer J, Raz E, Marlow FL
Development, April 15, 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.
Simultaneous detection of sperm membrane integrity and DNA fragmentation by flow cytometry: A novel and rapid tool for sperm analysis.
Da Costa R, Redmann K, Schlatt S
Andrology, April 8, 2021
Link to the publication.
Serum concentrations of dihydrotestosterone are associated with symptoms of hypogonadism in biochemically eugonadal men.
Sansone A, Kliesch S, Dugas M, Sandhowe-Klaverkamp R, Isidori AM, Schlatt S, Zitzmann M
Journal of Endocrinological Investigation, April 3, 2021
Link to the publication.
Independence of chromatin conformation and gene regulation during Drosophila dorsoventral patterning.
Ing-Simmons E, Vaid R, Bing XY, Levine M, Mannervik M, Vaquerizas JM
Nature Genetics, April 1, 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.
One-step reprogramming of human fibroblasts into oligodendrocyte-like cells by SOX10, OLIG2, and NKX6.2.
Chanoumidou K, Hernández-Rodríguez B, Windener F, Thomas C, Stehling M, Mozafari S, Albrecht S, Ottoboni L, Antel J, Kim KP, Velychko S, Cui QL, Xu YKT, Martino G, Winkler J, Schöler HR, Evercooren ABV, Boespflug-Tanguy O, Vaquerizas JM, Ehrlich M, Kuhlmann T
Stem Cell Reports, March 25, 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.
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, March 10, 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.
Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system.
Aprea I, Nöthe-Menchen T, Dougherty GW, Raidt J, Loges NT, Kaiser T, Wallmeier J, Olbrich H, Strünker T, Kliesch S, Pennekamp P, Omran H
Molecular Human Reproduction, February 9, 2021
Link to the publication.
Chemokine-biased robust self-organizing polarization of migrating cells in vivo.
Olguin-Olguin A, Aalto A, Maugis B, Boquet-Pujadas A, Hoffmann D, Erblich L, Betz T, S Gov N, Reichman-Fried M, Raz E
Proceedings of the National Academy of Sciences of the United States of America, January 5, 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.
FAN-C: a feature-rich framework for the analysis and visualisation of chromosome conformation capture data.
Kruse K, Hug CB, Vaquerizas JM
Genome Biology, December 17, 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.
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
Dougherty GW, Mizuno K, Nöthe-Menchen T, Ikawa Y, Boldt K, Ta-Shma A, Aprea I, Minegishi K, Pang YP, Pennekamp P, Loges NT, Raidt J, Hjeij K, Wallmeier J, Mussaffi H, Perles Z, Elpeleg O, Rabert F, Shiratori H, Letteboer SJ, Horn N, Young S, Strünker T, Stumme F, Werner C, Olbrich H, Takaoka K, Ide T, Twan WK, Biebach L, Große-Onnebrink J, Klinkenbusch JA, Praveen K, Bracht DC, Höben IM, Junger K, Gützlaff J, Cindrić S, Aviram M, Kaiser T, Memari Y, Dzeja PP, Dworniczak B, Ueffing M, Roepman R, Bartscherer K, Katsanis N, Davis E, Amirav I, Hamada H, Omran H
Nature Communications, November 2, 2020
Link to the publication.
E-cadherin focuses protrusion formation at the front of migrating cells by impeding actin flow.
Grimaldi C, Schumacher I, Boquet-Pujadas A, Tarbashevich K, Vos BE, Bandemer J, Schick J, Aalto A, Olivo-Marin JC, Betz T, Raz E
Nature Communications, October 26, 2020
Link to the publication.
CHESS enables quantitative comparison of chromatin contact data and automatic feature extraction.
Galan S, Machnik N, Kruse K, Díaz N, Marti-Renom MA, Vaquerizas JM
Nature Genetics, October 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.
Management of primary ciliary dyskinesia.
Raidt J, Brillault J, Brinkmann F, Jung A, Koerner-Rettberg C, Koitschev A, Linz-Keul H, Nüßlein T, Ringshausen FC, Röhmel J, Rosewich M, Werner C, Omran H
Pneumologie, September 25, 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
Preprint - medRxiv, September 16, 2019
Link to the publication and preprint.
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, Tüttelmann F, Röpke A, Krallmann C, Kliesch S, Zeng XH, Brenker C, Strünker T
The Journal of Biological Chemistry, September 18, 2020
Preprint - bioRxiv, February 11, 2020
Link to the publication and preprint.
Motile ciliopathies.
Wallmeier J, Nielsen KG, Kuehni CE, Lucas JS, Leigh MW, Zariwala MA, Omran H
Nature Reviews Disease Primers, September 17, 2020
Link to the publication.
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.
Molecular mechanism underlying the action of Zona-pellucida glycoproteins on mouse sperm.
Balbach M, Hamzeh H, Jikeli JF, Brenker C, Schiffer C, Hansen JN, Neugebauer P, Trötschel C, Jovine L, Han L, Florman HM, Kaupp UB, Strünker T, Wachten D
Frontiers in Cell and Developmental Biology, August 31, 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 Sspermatogenesis 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.
Testicular microlithiasis is associated with impaired spermatogenesis in patients with unexplained infertility.
Rassam Y, Gromoll J, Kliesch S, Schubert M
Urologia Internationalis, June 26, 2020
Link to the publication.
Challenging human somatic testicular cell reassembly by protein kinase inhibition - setting up a functional in vitro test system.
Mincheva M, Wistuba J, Brenker C, Schlatt S
Scientific Reports, June 2, 2020
Link to the publication.
41,XXY* male mice – an animal model for Klinefelter syndrome
Wistuba J, Beumer C, Brehm R, Gromoll J
American Journal of Medical Genetics Part C, May 20, 2020
Link to the publication.
Molecular aging markers in patients with Klinefelter Syndrome
Pohl E, Muschal S, Kliesch S, Zitzmann M, Rohayem J, Gromoll J, Laurentino S
Aging and Disease, May 9, 2020
Link to the publication.
The sperm epigenome does not display recurrent epimutations in patients with severely impaired spermatogenesis.
Leitao E, Di Persio S, Laurentino S, Wöste M, Dugas M, Kliesch S, Neuhaus N, Horsthemke B
Clinical Epigenetics, May 6, 2020
Link to the publication.
wg-blimp: an end-to-end analysis pipeline for whole genome bisulfite sequencing data.
Wöste M, Leitao E, Laurentino S, Horsthemke B, Rahmann S, Schröder C
BMC Bioinformatics, May 1, 2020
Preprint - bioRxiv, November 30, 2019
Link to the publication and preprint.
Germ cell migration-Evolutionary issues and current understanding.
Grimaldi C, Raz E
Seminars in Cell & Developmental Biology, April 1, 2020
Link to the publication.
The initial maturation status of marmoset testicular tissues has an impact on germ cell maintenance and somatic cell response in tissue fragment culture.
Heckmann L, Langenstroth-Röwer D, Wistuba J, Portela JMD, Pelt AMM, Redmann K, Stukenborg JB, Schlatt S, Neuhaus N
Molecular Human Reproduction, April 1, 2020
Link to the publication.
Does the FSHB c.-211G>T polymorphism impact Sertoli cell number and the spermatogenic potential in infertile patients?
Schubert M, Kaldewey S, Pérez-Lanuza L, Krenz H, Dugas M, Berres S, Kliesch S, Wistuba J, Gromoll J
Andrology, February 24, 2020
Link to the publication.
Immunohistochemical characertization of the anti-Müllerian hormone receptor type 2 (AMHR-2) in human testes.
Sansone A, Isidori AM, Kliesch S, Schlatt S
Endocrine, February 6, 2020
Link to the publication.
Dead end and Detour: The function of the RNA-binding protein Dnd in posttranscriptional regulation in the germline.
Gross-Thebing T, Raz E
Current Topics in Developmental Biology, February 5, 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.
Microfluidics in male reproduction: is ex vivo culture of primate testis tissue a future strategy for ART or toxicology research?
Sharma S, Venzac B, Burgers T, Le Gac S, Schlatt S
Molecular Human Reproduction, January 16, 2020
Link to the publication.
Development and disease-dependent dynamics of spermatogonial subpopulations in human testicular tissues.
Portela JMD, Heckmann L, Wistuba J, Sansone A, van Pelt AMM, Kliesch S, Schlatt S, Neuhaus N
Journal of Clinical Medicine, January 14, 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, 2019
Link to the publication.
De novo mutations in FOXJ1 result in a motile ciliopathy with hydrocephalus and randomisation of left/right body asymmetry.
Wallmeier J, Frank D, Shoemark A, Nöthe-Menchen T, Cindric S, Olbrich H, Loges NT, Aprea I, Dougherty GW, Pennekamp P, Kaiser T, Mitchison HM, Hogg C, Carr SB, Zariwala MA, Ferkol T, Leigh MW, Davis SD, Atkinson J, Dutcher SK, Knowles MR, Thiele H, Altmüller J, Krenz H, Wöste M, Brentrup A, Ahrens F, Vogelberg C, Morris-Rosendahl DJ, Omran H
American Journal of Human Genetics, November 7, 2019
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.
Randomisation of left/right asymmetry and congenital heart defects: the role of DNAH5 in humans and mice.
Nöthe-Menchen T, Wallmeier J, Pennekamp P, Höben IM, Olbich H, Loges NT, Radt J, Dougherty GW, Hjeij R, Dworniczak B, Omran H
Circulation: Genomic and Precision Medicine, October 22, 2019
Link to the publication.
SPEF2- and HYDIN-mutant cilia lack the central pair associated protein SPEF2 aiding PCD diagnostics.
Cindríc S, Dougherty GW, Olbrich H, Hjeij R, loges NT, Amirav I, Philipsen MC, Marthin JK, Nielsen KG, Sutharsan S, Raidt J, Werner C, Pennekamp P, Dworniczak B, Omran H
American Journal of Respiratory Cell and Molecular Biology, September 20, 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 8, 2019
Link to the publication.
High-resolution analysis of germ cells from men with sex chromosomal aneuploidies reveals normal transcriptome but impaired imprinting.
Laurentino S, Heckmann L, Di Persio S, Li X, Meyer Zu Hörste G, Wistuba J, Cremers JF, Gromoll J, Kliesch S, Schlatt S, Neuhaus N
Clinical Epigenetics, August 28, 2019
Link to the publication.
Retention of paternal DNA methylome in the developing zebrafish germline.
Skvortsova K, Tarbashevich K, Stehling M, Lister R, Irimia M, Raz E, Bogdanovic O
Nature Communications, July 11, 2019
Link to the publication.
Ageing in men with normal spermatogenesis alters spermatogonial dynamics and nuclear morphology in Sertoli cells.
Pohl E, Höffken V, Schlatt S, Kliesch S, Gromoll J, Wistuba J
Andrology, June 27, 2019
Link to the publication.
Characterization and population dynamics of germ cells in adult macaque testicular cultures.
Sharma S, Schlatt S, Van Pelt A, Neuhaus N
PLoS One, June 21, 2019
Link to the publication.
Spermatogonial stem cells: updates from specification to clinical relevance.
Sharma S, Wistuba J, Pock T, Schlatt S, Neuhaus N
Human Reproduction Update, April 5, 2019
Link to the publication.
Stem cell-based options to preserve male fertility.
Neuhaus N, Schlatt S
Science, March 22, 2019
Link to the publication.
Pharmacogenetics of FSH action in the male.
Schubert M, Pérez Lanuza L, Gromoll J
Frontiers in Endocrinology, February 28, 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.
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.
The ReproGenomics Viewer: a multi-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, Nef S, Jégou B, Rolland AD, Chalmel F
Bioinformatics, January 22, 2019
Link to the publication.
The 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
Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects.
Loges NT, Antony D, Maver A, Deardorff MA, Güleç EY, Gezdirici A, Nöthe-Menchen T, Höben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu K, Goldmuntz E, Čuturilo G, Krock B, Ritter A, Hjeij R, Bakey Z, Pennekamp P, Dworniczak B, Brunner H, Peterlin B, Tanidir C, Olbrich H, Omran H, Schmidts M
American Journal of Human Genetics, December 6, 2018
Link to the publication.
Synergistic activation of CatSper Ca2+ channels in human sperm by oviductal ligands and endocrine disrupting chemicals.
Brenker C, Rehfeld A, Schiffer C, Kierzek M, Kaupp UB, Skakkebæk NE, Strünker T
Human Reproduction, September 5, 2018
Link to the publication.
Differentiation of testis xenografts in the prepubertal marmoset depends on the sex and status of the mouse host.
Sharma S, Sandhowe-Klaverkamp R, Schlatt S
Frontiers in Endocrinology, August 29, 2018
Link to the publication.
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
Ta-Shma A, Hjeij R, Perles Z, Dougherty GW, Abu Zahira I, Letteboer SJF, Antony D, Darwish A, Mans DA, Spittler S, Edelbusch C, Cindrić, Nöthe-Menchen T, Olbrich H, Stuhlmann F, Aprea I, Pennekamp P, Loges NT, Breuer O, Shaag A, Rein AJJT, Gulec EY, Gezdirici A, Abitbul R, Elias N, Amirav I, Schmidts M, Roepman R, Elpeleg O, Omran H
PLoS Genetics, August 27, 2018
Link to the publication.
The impact of FSH receptor polymorphism on time-to-pregnancy: a cross-sectional single-centre study.
Zilaitiene B, Dirzauskas M, Verkauskiene R, Ostrauskas R, Gromoll J, Nieschlag E
BMC Pregnancy Childbirth, June 28, 2018
Link to the publication.
A novel cross-species inhibitor to study the function of CatSper Ca2+ channels in sperm.
Rennhack A, Schiffer C, Brenker C, Fridman D, Nitao ET, Cheng YM, Tamburrino L, Balbach M, Stölting G, Berger TK, Kierzek M, Alvarez L, Wachten D, Zeng XH, Baldi E, Publicover S, Kaupp UB, Strünker T
British Journal of Pharmacology, May 3, 2018
Link to the publication.
Mutations in C11orf70 cause primary ciliary dyskinesia with randomization of left/right body asymmetry due to defects of outer and inner dynein arms.
Höben IM, Hjeij R, Olbrich H, Dougherty GW, Nöthe-Menchen T, Aprea I, Frank D, Pennekamp P, Dworniczak B, Wallmeier J, Raidt J, Nielsen KG, Philipsen MC, Santamaria F, Venditto L, Amirav I, Mussaffi H, Prenzel F, Wu K, Bakey Z, Schmidts M, Loges NT, Omran H
American Journal of Human Genetics, May 3, 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
The vertebrate protein dead-end maintains primordial germ cell fate by inhibiting somatic differentiation.
Gross-Thebing T, Yigit S, Pfeiffer J, Reichman-Fried M, Bandemer J, Ruckert C, Rathmer C, Goudarzi M, Stehling M, Tarbashevich K, Seggewiss J, Raz E
Developmental Cell, December 18, 2017
Link to the publication.
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, Jørgensen N
Andrology, November 27, 2017
Link to the publication.