Εξειδίκευση τύπου :	Άρθρο σε επιστημονικό περιοδικό
Τίτλος:	Role of testis‑specific serine kinase 1B in undiagnosed male infertility
Δημιουργός/Συγγραφέας:	Kadiyska, Tanya Tourtourikov, Ivan Dabchev, Kristiyan Madzharova, Dilyana Tincheva, Savina [EL] Σπαντίδος, Δημήτριος Α.[EN] Spandidos, Demetrios A. [EL] Ζουμπουρλής, Βασίλης[EN] Zoumpourlis, Vassilis
Ημερομηνία:	2022-06
Γλώσσα:	Αγγλικά
ISSN:	1791-2997 1791-3004
DOI:	10.3892/mmr.2022.12720
Άλλο:	35485285
Περίληψη:	Male infertility is a global problem affecting a considerable part of the male population. Current guidelines and practices aimed at diagnosing the cause of this problem still have low diagnostic yield. As novel candidate genes for infertility emerge, their functional role needs to be investigated in patient populations. The present study aimed to investigate testis‑specific serine kinase 1B (TSSK1B), which was discovered in a previously diagnosed patient. Sanger sequencing of the coding regions and exon borders of TSSK1B was performed in a cohort of 100 male Bulgarian patients with unresolved infertility causes. Missense mutations were discovered in 10% of patients and were associated with clinical data on sperm dysmorphology. Two previously unreported mutations were discovered, p.3D>N and p.52F>L. All mutations were scored via in silico predictors and protein modelling using AlphaFold2. The present findings indicated an association between TSSK1B mutations and asthenoteratozoospermia, with further missense mutations in patients with azoospermia and teratozoospermia. Mutations in TSSK1B may be a cause of undiagnosed cases of male infertility and should be considered when molecular diagnostics are warranted.
Τίτλος πηγής δημοσίευσης:	Molecular medicine reports
Τόμος/Κεφάλαιο:	25
Τεύχος:	6
Θεματική Κατηγορία:	[EL] Βιοχημεία[EN] Biochemistry [EL] Γενετική[EN] Genetics [EL] Εσωτερική ιατρική[EN] Internal medicine [EL] Δομική Βιολογία[EN] Structural Biology [EL] Ιατρική[EN] Medicine
Λέξεις-Κλειδιά:	Testis-specific serine kinase 1B Asthenoteratozoospermia Male infertility Genetics Sequencing Protein modelling
Κάτοχος πνευματικών δικαιωμάτων:	© Kadiyska et al
Όροι και προϋποθέσεις δικαιωμάτων:	This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) License.
Ηλεκτρονική διεύθυνση στον εκδότη (link):	https://www.spandidos-publications.com/10.3892/mmr.2022.12720
Εμφανίζεται στις συλλογές:	Ινστιτούτο Χημικής Βιολογίας - Επιστημονικό έργο