Résultat de recherche

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.

Patrick Revy, Jean-Pierre De Villartay, Christine Bole, Patrick Nitschké

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Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.

Patrick Revy

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Cardiac valve involvement in ADAR-related type I interferonopathy.

Yanick Crow , Luís Seabra

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Cardiac valve involvement in ADAR-related type I interferonopathy.

Yanick Crow , Luís Seabra

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Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling.

Luís Seabra, Alice Lepelley, Isabelle Melki, Marie-Louise Frémond, Pepa Martin-Niclos, Yanick Crow

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Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.

Géraldine Mollet, Corinne Antignac, Christelle Arrondel, Olivier Gribouval, Olivia Boyer

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Cilia in hereditary cerebral anomalies.

Alexandre Benmerah

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Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

Sophie Saunier, Valérie Cormier-Daire, Cécile Jeanpierre, Meriem Garfa-Traoré , Patrick Nitschké

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Ciliary kinesins beyond IFT: Cilium length, disassembly, cargo transport and signalling.

Alexandre Benmerah

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The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Cécile Jeanpierre

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Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

Alexandre Benmerah

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