OGRE: calculate, visualize, and analyze overlap between genomic input regions and public annotations

Autor: Sven Berres, Jörg Gromoll, Marius Wöste, Sarah Sandmann, Sandra Laurentino

Publikováno v: BMC Bioinformatics, Vol 24, Iss 1, Pp 1-14 (2023)

Abstract Background Modern genome sequencing leads to an ever-growing collection of genomic annotations. Combining these elements with a set of input regions (e.g. genes) would yield new insights in genomic associations, such as those involved in gen

Externí odkaz: https://doaj.org/article/cd5f13811a2646f383abab88b0033fcc

TRIM71 Deficiency Causes Germ Cell Loss During Mouse Embryogenesis and Is Associated With Human Male Infertility

Autor: Lucia A. Torres-Fernández, Jana Emich, Yasmine Port, Sibylle Mitschka, Marius Wöste, Simon Schneider, Daniela Fietz, Manon S. Oud, Sara Di Persio, Nina Neuhaus, Sabine Kliesch, Michael Hölzel, Hubert Schorle, Corinna Friedrich, Frank Tüttelmann, Waldemar Kolanus

Publikováno v: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

Mutations affecting the germline can result in infertility or the generation of germ cell tumors (GCT), highlighting the need to identify and characterize the genes controlling germ cell development. The RNA-binding protein and E3 ubiquitin ligase TR

Externí odkaz: https://doaj.org/article/bbb96f35293748e18f3b5a151fccdc44

Transcriptome analyses in infertile men reveal germ cell-specific expression and splicing patterns

Autor: Lara M Siebert-Kuss, Henrike Krenz, Tobias Tekath, Marius Wöste, Sara Di Persio, Nicole Terwort, Margot J Wyrwoll, Jann-Frederik Cremers, Joachim Wistuba, Martin Dugas, Sabine Kliesch, Stefan Schlatt, Frank Tüttelmann, Jörg Gromoll, Nina Neuhaus, Sandra Laurentino

Publikováno v: Life science alliance. 6(2)

The process of spermatogenesis—when germ cells differentiate into sperm—is tightly regulated, and misregulation in gene expression is likely to be involved in the physiopathology of male infertility. The testis is one of the most transcriptionall

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::697079b881d78f0f4c7e4ea134422f3a
https://pubmed.ncbi.nlm.nih.gov/36446526

Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia

Autor: James M. Hotaling, Steven E. Boyden, Frank Tüttelmann, Alexandra M. Lopes, Marius Wöste, Albert Salas-Huetos, Sabine Kliesch, Donald F. Conrad, Margot J. Wyrwoll, Douglas T. Carrell, Kenneth I. Aston, João Gonçalves, Liina Nagirnaja

Publikováno v: Hum Genet
HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

GEMINI Consortium: Donald F Conrad, Kenneth I Aston, Douglas T Carrell, James M Hotaling, Liina Nagirnaja, Timothy G Jenkins, Moira K O'Bryan, Rob McLachlan, Peter N Schlegel, Michael L Eisenberg, Jay I Sandlow, James F Smith, Puneet Kamal, Carole Ob

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0102fb1d9a027828d93b241f12c89f9b
https://doi.org/10.1007/s00439-020-02236-1

Genetic Architecture of Azoospermia-Time to Advance the Standard of Care

Autor: Margot J. Wyrwoll, Nils Köckerling, Matthias Vockel, Ann-Kristin Dicke, Nadja Rotte, Eva Pohl, Jana Emich, Marius Wöste, Christian Ruckert, Rebecca Wabschke, Jochen Seggewiss, Susanne Ledig, Ann-Christin Tewes, Yvonne Stratis, Jann F. Cremers, Joachim Wistuba, Claudia Krallmann, Sabine Kliesch, Albrecht Röpke, Birgit Stallmeyer, Corinna Friedrich, Frank Tüttelmann

Publikováno v: European urology.

Crypto- and azoospermia (very few/no sperm in the semen) are main contributors to male factor infertility. Genetic causes for spermatogenic failure (SPGF) include Klinefelter syndrome and Y-chromosomal azoospermia factor microdeletions, and CFTR muta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25f4387cd1a69f31b9f386c0c3c96058
https://pubmed.ncbi.nlm.nih.gov/35690514