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MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

Guimier A, et al.

Nature Genetics 2015 (2015); 47:1260-3


Human intracellular ISG15 prevents interferon-α/β over amplification and autoinflammation.

ZHANG X et al.

Nature 2015 517:89-93.


Whole-exome sequencing analysis reveals heterozygous RTEL1 mutations as a major cause of familial pulmonary fibrosis.

Crestani B. Kannengiesser C, Borie R, Ménard R, Réocreux M, Nitschké P, Mal H, Cadranel J, Nunes H, Valeyre D, Cordier JF, Callebaut I, BoileauC, Cottin V, Grandchamp B, Revy P. (2015)

The European respiratory journal. 2015 46: 474-485


Congenital defects in V(D)J recombination.

de Villartay JP Congenital defects in V(D)J recombination.

British Medical Bulletin 2015 114(1):157-67.


Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.

Londono-Vallejo A Schertzer M, Jouravleva K, Perderiset M, Dingli F, Loew D, Le Guen T, Bardoni B, de Villartay JP, Revy P

Nucleic acids research 2015 43: 1834-1847


A novel immunoregulatory role for NK-cell cytotoxicity in protection from HLH-like immunopathology in mice

DE SAINT BASILE, G. Sepulveda, F.E., Maschalidi, S., Vosshenrich, C.A., Garrigue, A., Kurowska, M., Menasche, G., Fischer, A., Di Santo, J.P. 2015.

Blood 2015 125:1427-1434


LYST controls the biogenesis of the endosomal compartment required for secretory lysosome function.

Sepulveda, F.E., Burgess, A., Heiligenstein, X., Goudin, N., Menager, M.M., Romao, M., Cote, M., Mahlaoui, N., Fischer, A., Raposo, G., et al. 2015.

Traffic 2015 16:191-203.


Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.

Metodiev MD, Assouline Z, Landrieu P, Chretien D, Bader-Meunier B, Guitton C, Munnich A, Rötig A.

Eur J Hum Genet. 2015 23(6):880-2


Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

Schiff M, Haberberger B, Xia C, Mohsen AW, Goetzman ES, Wang Y, Uppala R, Zhang Y, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, Häberle J, Munnich A, Rötig A, Taylor RW, Nicholls RD, Kim JJ, Prokisch H, Vockley J.

Hum Mol Genet. 2015 pii: ddv074


Role of muscle stem cells during skeletal regeneration

ABOU-KHALIL R, Yang, F, Lieu, S, Julien, A, Perry, J, Pereira, C, Relaix, F., Miclau, T, Marcucio, R and Colnot, C.

Stem Cells, 2015 33(5):1501-11


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