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Items: 2

1.

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.

Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network, Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A.

J Exp Med. 2020 Jun 1;217(6). pii: e20191804. doi: 10.1084/jem.20191804.

PMID:
32207811
2.

The intellectual disability protein PAK3 regulates oligodendrocyte precursor cell differentiation.

Maglorius Renkilaraj MRL, Baudouin L, Wells CM, Doulazmi M, Wehrlé R, Cannaya V, Bachelin C, Barnier JV, Jia Z, Nait Oumesmar B, Dusart I, Bouslama-Oueghlani L.

Neurobiol Dis. 2017 Feb;98:137-148. doi: 10.1016/j.nbd.2016.12.004. Epub 2016 Dec 6.

PMID:
27940202

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