Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms.

Autor: Cassin J; Department of Obstetrics, Gynecology, and Reproductive Sciences; Center for Reproductive Science and Medicine; and.; Center for Circadian Biology, University of California, San Diego, La Jolla, California, USA., Stamou MI; Massachusetts General Hospital Harvard Center for Reproductive Medicine and Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts, USA., Keefe KW; Center for Infertility and Reproductive Surgery, Brigham and Women's Hospital, Boston, Massachusetts, USA., Sung KE; Department of Obstetrics, Gynecology, and Reproductive Sciences; Center for Reproductive Science and Medicine; and., Bojo CC; Department of Obstetrics, Gynecology, and Reproductive Sciences; Center for Reproductive Science and Medicine; and., Tonsfeldt KJ; Department of Obstetrics, Gynecology, and Reproductive Sciences; Center for Reproductive Science and Medicine; and.; Center for Circadian Biology, University of California, San Diego, La Jolla, California, USA., Rojas RA; Massachusetts General Hospital Harvard Center for Reproductive Medicine and Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts, USA., Ferreira Lopes V; Massachusetts General Hospital Harvard Center for Reproductive Medicine and Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts, USA., Plummer L; Center for Infertility and Reproductive Surgery, Brigham and Women's Hospital, Boston, Massachusetts, USA., Salnikov KB; Massachusetts General Hospital Harvard Center for Reproductive Medicine and Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts, USA., Keefe DL Jr; Center for Infertility and Reproductive Surgery, Brigham and Women's Hospital, Boston, Massachusetts, USA., Ozata M; Gulhane School of Medicine, Ankara, Turkey., Genel M; Section of Pediatric Endocrinology, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA., Georgopoulos NA; Division of Endocrinology, Department of Medicine, University of Patras Medical School, Patras, Greece., Hall JE; National Institute of Environmental Health Sciences, Durham, North Carolina, USA., Crowley WF Jr; Endocrine Unit, Department of Medicine, and Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA., Seminara SB; Massachusetts General Hospital Harvard Center for Reproductive Medicine and Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts, USA., Mellon PL; Department of Obstetrics, Gynecology, and Reproductive Sciences; Center for Reproductive Science and Medicine; and.; Center for Circadian Biology, University of California, San Diego, La Jolla, California, USA., Balasubramanian R; Massachusetts General Hospital Harvard Center for Reproductive Medicine and Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.

Publikováno v: JCI insight [JCI Insight] 2023 Feb 08; Vol. 8 (3). Date of Electronic Publication: 2023 Feb 08.

Clinical and Ultrasonographic Remission in Bio-naïve and Bio-failure Patients with Rheumatoid Arthritis at 24 Weeks of Upadacitinib Treatment: The UPARAREMUS Real-Life Study.

Autor: Picchianti Diamanti, Andrea¹ (AUTHOR) andrea.picchiantidiamanti@uniroma1.it, Cattaruzza, Maria Sofia² (AUTHOR), Salemi, Simonetta¹ (AUTHOR), Di Rosa, Roberta¹ (AUTHOR), Sesti, Giorgio¹ (AUTHOR), De Lorenzo, Chiara¹ (AUTHOR), Felice, Gloria Maria¹ (AUTHOR), Frediani, Bruno³ (AUTHOR), Baldi, Caterina³ (AUTHOR), Chimenti, Maria Sole⁴ (AUTHOR), D'Antonio, Arianna⁴ (AUTHOR), Crepaldi, Gloria⁵ (AUTHOR), Luchetti, Michele Maria⁶ (AUTHOR), Paci, Valentino⁶ (AUTHOR), Zabotti, Alen⁷ (AUTHOR), Giovannini, Ivan⁷ (AUTHOR), Canzoni, Marco⁸ (AUTHOR), Sebastiani, Giandomenico⁹ (AUTHOR), Scirocco, Chiara⁹ (AUTHOR), Perricone, Carlo¹⁰ (AUTHOR)

Publikováno v: Rheumatology & Therapy. Oct2024, Vol. 11 Issue 5, p1347-1361. 15p.

Prevalence of the DNA repair enzyme-NEIL1 gene mutation in patients with Type 2 diabetes in the Turkish population

Autor: Salmanoglu, M., Kucukardali, Y., Kucukodaci, Z., Fenercioglu, A., Solmazgul, E., Onem, Y., Ozata, M.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10007::475a5449b6a24cbe477586dae03f9399
https://hdl.handle.net/20.500.11831/767

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RNA Sequencing Reveals a Strong Predominance of THRA Splicing Isoform 2 in the Developing and Adult Human Brain.

Autor: Graceffo, Eugenio^1,2 (AUTHOR) eugenio.graceffo@charite.de, Opitz, Robert³ (AUTHOR) robert.opitz@charite.de, Megges, Matthias⁴ (AUTHOR) matthias.megges@charite.de, Krude, Heiko³ (AUTHOR) heiko.krude@charite.de, Schuelke, Markus^1,2,5 (AUTHOR) markus.schuelke@charite.de

Publikováno v: International Journal of Molecular Sciences. Sep2024, Vol. 25 Issue 18, p9883. 17p.