Ellis-Van Creveld Syndrome. Case report and literature review

Ellis-van Creveld syndrome is a genetic disorder that was first described by Richard Ellis and Simon van Creveld in 1940. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. The orofacial manifestations include multiple gingivolabial musculofibrous fraenula, dental anomalies, hypodontia and malocclusion. The disease can be diagnosed at any age, even during pregnancy. The differentiation should be made between Jeune syndrome and other orofaciodigital syndromes

Ellis-Van Creveld Syndrome. Case report and literature review

Ellis-van Creveld syndrome is a genetic disorder that was first described by Richard Ellis and Simon van Creveld in 1940. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. The orofacial manifestations include multiple gingivolabial musculofibrous fraenula, dental anomalies, hypodontia and malocclusion. The disease can be diagnosed at any age, even during pregnancy. The differentiation should be made between Jeune syndrome and other orofaciodigital syndromes

Van Hevel [Jules, coureur cycliste belge] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 58735

Van Hecke [Alfons, coureur cycliste belge] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 58739

L'Adéquation entre la formation et l'emploi dans les régions / Ministère de l'économie et des finances, Institut national de la statistique et des études économiques ; [rédigé par] Jean-Marie Chanut

Collection : Les Collections de l'Insee ; 236, 26

Caracterizacion de plantas de chicozapote (Manilkara zapota (L.) P. van Royen) de la coleccion del CATIE, mediante el uso del analisis multivariado

Efetuou-se a caracterização de plantas de sapotilha da coleção do CATIE com base em características qualitativas e quantitativas. Foram consideradas, no presente estudo, 49 variáveis, sendo 31 quantitativas e 18 qualitativas. Para a análise estatística dos dados, utilizou-se da análise de conglomerados, análise discriminante, discriminante canônica, provas F para características quantitativas e chi2 para as qualitativas. As 13 plantas avaliadas formaram três grupos, com quatro, seis e três plantas, respectivamente. Para estes agrupamentos, a prova F indicou somente seis características significativas entre os grupos das 31 avaliadas: diâmetro do fruto, diâmetro da polpa, rendimento do fruto, largura da folha, acidez e glicose. chi2 apontou apenas a forma do fruto como diferente entre os três grupos das 18 avaliadas.

Musique et musiciens à Annecy : les maîtrises, 1630-1789 / Marie-Thérèse Bouquet

Collection : Mémoires et documents publiés par l'Académie salésienne ; 81

KIAA1985, a Protein Mutant in Charcot-Marie-Tooth Neuropathy, Links Peripheral Nerve Myelination to Endosomal Recycling Pathways

Charcot-Marie-Tooth neuropathy (CMT) represents a heterogenous group of inherited disorders of the peripheral nervous system. One form of autosomal recessive demyelinating CMT (CMT4C, 5q32) is caused by mutations in the gene encoding KIAA1985, a protein of so far unknown function. Here we show that KIAA1985 is exclusively expressed in Schwann cells. KIAA1985 is tethered to cellular membranes through an N-terminal myristic acid anchor and localizes to the perinuclear recycling compartment. A search for proteins that interact with KIAA1985 identified the small GTPase Rab11, a key regulator of recycling endosome functions. CMT4C-related missense mutations disrupt the KIAA1985/Rab11 interaction. Protein binding studies indicate that KIAA1985 functions as a Rab11 effector, as it interacts only with active forms of Rab11 (WT and Q70L) and does not interact with the GDP locked mutant (S25N). Consistent with a function of Rab11 in Schwann cell myelination, myelin formation was strongly impaired when dorsal root ganglion neurons were co-cultured with Schwann cells infected with Rab11 S25N. Our data indicate that the KIAA1985/Rab11 interaction is relevant for peripheral nerve pathophysiology and place endosomal recycling on the list of cellular mechanisms involved in Schwann cell myelination.