Ypres, les halles [ruines] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 57803

28-12-19 [voyage présidentiel pour la remise de la] Légion d'honneur à [la ville de] Bapaume [la foule écoutant le discours présidentiel parmi les ruines] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 57376

Ypres, les halles [ruines] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 57801

Ruines de la bibliothèque de l'université de Louvain : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 57331

Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.

BACKGROUND: Establishing the genetic basis of phenotypes such as skeletal dysplasia in model organisms can provide insights into biologic processes and their role in human disease. METHODS: We screened mutagenized mice and observed a neonatal lethal skeletal dysplasia with an autosomal recessive pattern of inheritance. Through genetic mapping and positional cloning, we identified the causative mutation. RESULTS: Affected mice had a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210); the affected mice lacked this protein. Golgi architecture was disturbed in multiple tissues, including cartilage. Skeletal development was severely impaired, with chondrocytes showing swelling and stress in the endoplasmic reticulum, abnormal cellular differentiation, and increased cell death. Golgi-mediated glycosylation events were altered in fibroblasts and chondrocytes lacking GMAP-210, and these chondrocytes had intracellular accumulation of perlecan, an extracellular matrix protein, but not of type II collagen or aggrecan, two other extracellular matrix proteins. The similarities between the skeletal and cellular phenotypes in these mice and those in patients with achondrogenesis type 1A, a neonatal lethal form of skeletal dysplasia in humans, suggested that achondrogenesis type 1A may be caused by GMAP-210 deficiency. Sequence analysis revealed loss-of-function mutations in the 10 unrelated patients with achondrogenesis type 1A whom we studied. CONCLUSIONS: GMAP-210 is required for the efficient glycosylation and cellular transport of multiple proteins. The identification of a mutation affecting GMAP-210 in mice, and then in humans, as the cause of a lethal skeletal dysplasia underscores the value of screening for abnormal phenotypes in model organisms and identifying the causative mutations.

Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene.

The two well-described osteolysis syndromes associated with matrix metalloproteinase-2 deficiency and mutations in the metalloproteinase-2 gene are Torg-Winchester syndrome and nodulosis-arthropathy-osteolysis variant. They are characterized by carpal-tarsal destruction, subcutaneous nodules, and generalized osteoporosis and show autosomal recessive inheritance. Herein, we report two siblings affected with a novel mutation in matrix metalloproteinase 2 gene and discuss their clinical and radiographic findings.

Extérieur de l'église de Rosières-en-Santerre [Somme] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 57253

28-12-19, [voyage présidentiel pour la remise de la] Légion d'honneur à [la ville de] Bapaume [le cortège présidentiel traversant la ville en ruines] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 57375

28-12-19, Croix de guerre et Légion d'honneur à [la ville de] Lens [le président Poincaré et les officiels en voiture parmi les ruines] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 57368

28-12-19, Croix de guerre et Légion d'honneur à [la ville de] Lens [le président Poincaré et les officiels dans la ville en ruines] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 57366

Reims 1917, un lendemain de bombardement [la cathédrale] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 57258