Publications
CRU326 publications released between 2017 to 2020:
2020
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, 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, Tüttelmann F, Röpke A, Krallmann C, Kliesch S, Zeng XH, Brenker C, Strünker T
The Journal of Biological Chemistry, 2020
Preprint - bioRxiv, 2020
Link to the publication and preprint.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, 2020
Preprint - bioRxiv, 2019
Link to the publication and preprint.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, 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 , 2020
Link to the publication.Testicular microlithiasis is associated with impaired spermatogenesis in patients with unexplained infertility.
Rassam Y, Gromoll J, Kliesch S, Schubert M
Urologia Internationalis, 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, 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, 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, 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, 2020
Link to the publication.The Male Fertility Gene Atlas - A web tool for collecting and integrating data about epi-/genetic causes of male infertility.
Krenz H, Gromoll J, Darde T, Chalmel F, Dugas M, Tüttelmann F
Preprint - medRxiv, 2020
Link to the publication.Immunohistochemical characertization of the anti-Müllerian hormone receptor type 2 (AMHR-2) in human testes.
Sansone A, Isidori AM, KlieschS, Schlatt S
Endocrine, 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, 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, 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, 2020
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, 2020
Link to the publication.2019
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, 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, 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, 2019
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
Preprint - bioRxiv, 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, 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, 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, 2019
Link to the publication.The X chromosome and male infertility.
Vockel M, Riera-Escamilla A, Tüttelmann F, Krausz C
Human Genetics, 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, 2019
Link to the publication.Healthy ageing men have normal reproductive function but display germline-specific molecular changes.
Laurentino S, Cremers JF, Horsthemke B, Tüttelmann F, Czeloth K, Zitzmann M, Pohl E, Rahmann S, Schroeder C, Berres S, Redmann K, Krallmann C, Schlatt S, Kliesch S, Gromoll J
Preprint - medRxiv, 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, 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, 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, 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, 2019
Link to the publication.Stem cell-based options to preserve male fertility.
Neuhaus N, Schlatt S
Science, 2019
Link to the publication.Pharmacogenetics of FSH action in the male.
Schubert M, Pérez Lanuza L, Gromoll J
Frontiers in Endocrinology, 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, 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, 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, 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, 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 ONE Genetics, 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, 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, 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, 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, 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, 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, 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, 2018
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, 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, 2017
Link to the publication.