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Page 1
Three novel presenilin 1 mutations marking the wide spectrum of age at onset and clinical patterns in familial Alzheimer's disease.
Roeber S, Müller-Sarnowski F, Kress J, Edbauer D, Kuhlmann T, Tüttelmann F, Schindler C, Winter P, Arzberger T, Müller U, Danek A, Kretzschmar HA. Roeber S, et al. Among authors: tuttelmann f. J Neural Transm (Vienna). 2015 Dec;122(12):1715-9. doi: 10.1007/s00702-015-1450-0. Epub 2015 Sep 8. J Neural Transm (Vienna). 2015. PMID: 26350633
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. Cerván-Martín M, et al. Among authors: tuttelmann f. Commun Biol. 2022 Nov 10;5(1):1220. doi: 10.1038/s42003-022-04192-0. Commun Biol. 2022. PMID: 36357561 Free PMC article.
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Romaniello R, Arrigoni F, Panzeri E, Poretti A, Micalizzi A, Citterio A, Bedeschi MF, Berardinelli A, Cusmai R, D'Arrigo S, Ferraris A, Hackenberg A, Kuechler A, Mancardi M, Nuovo S, Oehl-Jaschkowitz B, Rossi A, Signorini S, Tüttelmann F, Wahl D, Hehr U, Boltshauser E, Bassi MT, Valente EM, Borgatti R. Romaniello R, et al. Among authors: tuttelmann f. Eur Radiol. 2017 Dec;27(12):5093. doi: 10.1007/s00330-017-4986-6. Eur Radiol. 2017. PMID: 28900662 No abstract available.
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. Höffken V, et al. Among authors: tuttelmann f. FASEB J. 2023 May;37(5):e22912. doi: 10.1096/fj.202200960R. FASEB J. 2023. PMID: 37086090
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. Nagirnaja L, et al. Among authors: tuttelmann f. Nat Commun. 2022 Dec 26;13(1):7953. doi: 10.1038/s41467-022-35661-z. Nat Commun. 2022. PMID: 36572685 Free PMC article.
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. Westerich KJ, et al. Among authors: tuttelmann f. Hum Reprod. 2023 Apr 3;38(4):655-670. doi: 10.1093/humrep/dead031. Hum Reprod. 2023. PMID: 36807972
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. Dellin M, et al. Among authors: tuttelmann f. Biol Chem. 2023 Feb 23;404(4):241-254. doi: 10.1515/hsz-2022-0247. Print 2023 Mar 28. Biol Chem. 2023. PMID: 36809224
119 results