A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR

Satu Wedenoja; Ahlam Khamaysi; Liana Shimshilashvili; Shireen Anbtawe-Jomaa; Outi Elomaa; Jorma Toppari; Pia Hoglund; Kristiina Aittomaki; Christer Holmberg; Outi Hovatta; Juha S. Tapanainen; Ehud Ohana; Juha Kere

doi:10.1038/s41598-017-14606-3

A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR

Satu Wedenoja, Ahlam Khamaysi, Liana Shimshilashvili, Shireen Anbtawe-Jomaa, Outi Elomaa, Jorma Toppari, Pia Hoglund, Kristiina Aittomaki, Christer Holmberg, Outi Hovatta, Juha S. Tapanainen, Ehud Ohana, Juha Kere

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Artikelnummer	14208
Tidskrift	Scientific Reports
Volym	7
Antal sidor	11
ISSN	2045-2322
DOI	https://doi.org/10.1038/s41598-017-14606-3
Status	Publicerad - 27 okt. 2017
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3111 Biomedicinska vetenskaper

Åtkomst av dokument

10.1038/s41598-017-14606-3

A missense mutationSlutlig publicerad version, 1,78 MBLicens: CC BY

Citera det här

Wedenoja, S., Khamaysi, A., Shimshilashvili, L., Anbtawe-Jomaa, S., Elomaa, O., Toppari, J., Hoglund, P., Aittomaki, K., Holmberg, C., Hovatta, O., Tapanainen, J. S., Ohana, E., & Kere, J. (2017). A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR. Scientific Reports, 7, [14208]. https://doi.org/10.1038/s41598-017-14606-3

Wedenoja, Satu ; Khamaysi, Ahlam ; Shimshilashvili, Liana ; Anbtawe-Jomaa, Shireen ; Elomaa, Outi ; Toppari, Jorma ; Hoglund, Pia ; Aittomaki, Kristiina ; Holmberg, Christer ; Hovatta, Outi ; Tapanainen, Juha S. ; Ohana, Ehud ; Kere, Juha. / A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR. I: Scientific Reports. 2017 ; Vol. 7.

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title = "A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR",

keywords = "TRANSMEMBRANE CONDUCTANCE REGULATOR, CONGENITAL CHLORIDE DIARRHEA, SPERM FERTILIZING-CAPACITY, DEPENDENT HCO3-TRANSPORT, CYSTIC-FIBROSIS GENE, MALE-INFERTILITY, EXCHANGER DRA, VAS-DEFERENS, MOLECULAR-MECHANISM, REPRODUCTIVE-TRACT, 3111 Biomedicine",

author = "Satu Wedenoja and Ahlam Khamaysi and Liana Shimshilashvili and Shireen Anbtawe-Jomaa and Outi Elomaa and Jorma Toppari and Pia Hoglund and Kristiina Aittomaki and Christer Holmberg and Outi Hovatta and Tapanainen, {Juha S.} and Ehud Ohana and Juha Kere",

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doi = "10.1038/s41598-017-14606-3",

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A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR. / Wedenoja, Satu; Khamaysi, Ahlam; Shimshilashvili, Liana; Anbtawe-Jomaa, Shireen; Elomaa, Outi; Toppari, Jorma; Hoglund, Pia; Aittomaki, Kristiina ; Holmberg, Christer; Hovatta, Outi; Tapanainen, Juha S.; Ohana, Ehud; Kere, Juha.

I: Scientific Reports, Vol. 7, 14208, 27.10.2017.

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

TY - JOUR

T1 - A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR

AU - Wedenoja, Satu

AU - Khamaysi, Ahlam

AU - Shimshilashvili, Liana

AU - Anbtawe-Jomaa, Shireen

AU - Elomaa, Outi

AU - Toppari, Jorma

AU - Hoglund, Pia

AU - Aittomaki, Kristiina

AU - Holmberg, Christer

AU - Hovatta, Outi

AU - Tapanainen, Juha S.

AU - Ohana, Ehud

AU - Kere, Juha

PY - 2017/10/27

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KW - TRANSMEMBRANE CONDUCTANCE REGULATOR

KW - CONGENITAL CHLORIDE DIARRHEA

KW - SPERM FERTILIZING-CAPACITY

KW - DEPENDENT HCO3-TRANSPORT

KW - CYSTIC-FIBROSIS GENE

KW - MALE-INFERTILITY

KW - EXCHANGER DRA

KW - VAS-DEFERENS

KW - MOLECULAR-MECHANISM

KW - REPRODUCTIVE-TRACT

KW - 3111 Biomedicine

U2 - 10.1038/s41598-017-14606-3

DO - 10.1038/s41598-017-14606-3

M3 - Article

VL - 7

JO - Scientific Reports

JF - Scientific Reports

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