Publications and ressources

Targeted Exon Skipping Restores Type VII Collagen Expression and Anchoring Fibril Formation in an In Vivo RDEB Model.

Alain Hovnanian

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Deciphering the genetic control of gene expression following Mycobacterium leprae antigen stimulation.

Aurélie Cobat

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Detection of interferon alpha protein reveals differential levels and cellular sources in disease.

Bénédicte Neven, Yanick Crow , Brigitte Bader-Meunier, Marie-Louise Frémond, Frédéric Rieux-Laucat, Isabelle Melki

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Gene Therapy with Hematopoietic Stem Cells: The Diseased Bone Marrow's Point of View.

Marina Cavazzana, Chantal LAGRESLE-PEYROU, Isabelle André

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Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

Corinne Antignac, Matias Simons, Christelle Arrondel, Olivier Gribouval, Olivia Boyer

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Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Clément PONTOIZEAU, Agnès Rötig, Chris OTTOLENGHI

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Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Benedetta RUZZENENTE, Agnès Rötig, Metodi METODIEV

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Single-Molecule Analysis of mtDNA Replication Uncovers the Basis of the Common Deletion.

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Interleukin-15-Dependent T-Cell-like Innate Intraepithelial Lymphocytes Develop in the Intestine and Transform into Lymphomas in Celiac Disease.

Nadine CERF-BENSUSSAN

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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

Jeanne Amiel, Stanislas Lyonnet, Patrick Nitschké, Chris Gordon

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Finding Patients Using Similarity Measures in a Rare Diseases-Oriented Clinical Data Warehouse: Dr. Warehouse and the Needle in the Needle Stack

Nicolas Garcelon

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Targeting mTOR Signaling Can Prevent the Progression of FSGS.

Amandine Viau

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A new 3p25 locus is associated with liver fibrosis progression in human immunodeficiency virus/hepatitis C virus-coinfected patients.

Laurent Abel

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Therapeutic effect of JAK1/2 blockade on the manifestations of hemophagocytic lymphohistiocytosis in mice.

Fernando Sepulveda , Geneviève de Saint Basile, Alain Fischer

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High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

Metodi METODIEV, Arnold Munnich, Agnès Rötig

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