RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
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Author / Creator
Szenker-Ravi, Emmanuelle , Altunoglu, Umut , Leushacke, Marc , Bosso-Lefèvre, Célia , Khatoo, Muznah , Thi Tran, Hong , Naert, Thomas , Noelanders, Rivka , Hajamohideen, Amin , Beneteau, Claire , de Sousa, Sergio B. , Karaman, Birsen , Latypova, Xenia , Başaran, Seher , Yücel, Esra Börklü , Tan, Thong Teck , Vlaminck, Lena , Nayak, Shalini S. , Shukla, Anju , Girisha, Katta Mohan , Le Caignec, Cédric , Soshnikova, Natalia , Uyguner, Zehra Oya , Vleminckx, Kris , Barker, Nick , Kayserili, Hülya and Reversade, Bruno
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
The four R-spondin secreted ligands (RSPO1–RSPO4) act via their cognate LGR4, LGR5 and LGR6 receptors to amplify WNT signalling
1
–
3
. Here we report an allelic series of recessive
RSPO2
mutations in humans that cause tetra-amelia syndrome, which is characterized by lung aplasia and a total absence of the four limbs. Functional s...
Alternative Titles
Full title
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
Authors, Artists and Contributors
Author / Creator
Altunoglu, Umut
Leushacke, Marc
Bosso-Lefèvre, Célia
Khatoo, Muznah
Thi Tran, Hong
Naert, Thomas
Noelanders, Rivka
Hajamohideen, Amin
Beneteau, Claire
de Sousa, Sergio B.
Karaman, Birsen
Latypova, Xenia
Başaran, Seher
Yücel, Esra Börklü
Tan, Thong Teck
Vlaminck, Lena
Nayak, Shalini S.
Shukla, Anju
Girisha, Katta Mohan
Le Caignec, Cédric
Soshnikova, Natalia
Uyguner, Zehra Oya
Vleminckx, Kris
Barker, Nick
Kayserili, Hülya
Reversade, Bruno
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2040763406
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2040763406
Other Identifiers
ISSN
0028-0836
E-ISSN
1476-4687
DOI
10.1038/s41586-018-0118-y