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Blepharophimosis,short humeri,developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations 下载免费PDF全文
Bertrand Isidor Tiphaine Lefebvre Claudine Le Vaillant Gaëlle Caillaud Laurence Faivre Frédéric Jossic Madeleine Joubert Norbert Winer Cédric Le Caignec Guntram Borck Anna Pelet Jeanne Amiel Annick Toutain Nathalie Ronce Martine Raynaud Alain Verloes Albert David 《American journal of medical genetics. Part A》2014,164(7):1821-1825
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Loss of teeth and enamel in tetrapods: fossil record, genetic data and morphological adaptations 总被引:1,自引:1,他引:0
Since their recruitment in the oral cavity, approximately 450 million years ago, teeth have been subjected to strong selective constraints due to the crucial role that they play in species survival. It is therefore quite surprising that the ability to develop functional teeth has subsequently been lost several times, independently, in various lineages. In this review, we concentrate our attention on tetrapods, the only vertebrate lineage in which several clades lack functional teeth from birth to adulthood. Indeed, in other lineages, teeth can be absent in adults but be functionally present in larvae and juveniles, can be absent in the oral cavity but exist in the pharyngeal region, or can develop on the upper jaw but be absent on the lower jaw. Here, we analyse the current data on toothless (edentate) tetrapod taxa, including information available on enamel-less species. Firstly, we provide an analysis of the dispersed and fragmentary morphological data published on the various living taxa concerned (and their extinct relatives) with the aim of tracing the origin of tooth or enamel loss, i.e. toads in Lissamphibia, turtles and birds in Sauropsida, and baleen whales, pangolins, anteaters, sloths, armadillos and aardvark in Mammalia. Secondly, we present current hypotheses on the genetic basis of tooth loss in the chicken and thirdly, we try to answer the question of how these taxa have survived tooth loss given the crucial importance of this tool. The loss of teeth (or only enamel) in all of these taxa was not lethal because it was always preceded in evolution by the pre-adaptation of a secondary tool (beak, baleens, elongated adhesive tongues or hypselodonty) useful for improving efficiency in food uptake. The positive selection of such secondary tools would have led to relaxed functional constraints on teeth and would have later compensated for the loss of teeth. These hypotheses raise numerous questions that will hopefully be answered in the near future. 相似文献
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Tiphaine Rouaud Armelle Magot Pierre Guihneuc Brigitte Perrouin Verbe Andr Truffert Yann Pron 《Clinical neurophysiology》2009,120(8):1543-1547
ObjectivesThe phrenic nerve cervical stimulation induces an early motor diaphragmatic M response that may be recorded from the 7th ipsilateral intercostal space (ICS). Some responses with prolonged latency and of unclear origin can be recorded from the same recording site. The aim of the study was to determine the electrophysiological characteristics and the neuroanatomical pathways underlying the long-latency responses (LLRs) recorded from the 7th ICS.MethodsWe studied seven healthy volunteers, five patients with spinal cord injury and five patients with diaphragmatic palsy. All underwent phrenic nerve conduction study. An LLR was sought for at different stimulation sites using various stimulus intensities.ResultsA polyphasic LLR was recorded from the 7th ICS in all healthy subjects. It was mainly elicited by nociceptive stimulations, not only of the phrenic, but also of the median nerves. Its latency was longer than 70 ms, with a wide inter- and intra-individual variability. Amplitude was highly variable and some habituation phenomenon occurred. The LLR was retained in most tetraplegic patients after phrenic nerve stimulation, but absent otherwise. It was present in all patients with diaphragmatic palsy after phrenic nerve stimulation.ConclusionThe LLR is likely to be produced by both intercostal and diaphragm muscles. It is a polysynaptic and multisegmental spinal response, probably conveyed by small-diameter nociceptive A-δ and/or C fibres and modulated by a supraspinal control.SignificanceThe LLR recorded from the chest wall may constitute, by analogy with the nociceptive component of the lower limb flexion reflex in humans, a protective and withdrawal spinal reflex response. 相似文献
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Vanessa Delfosse Tiphaine Huet Deborah Harrus Meritxell Granell Maxime Bourguet Caroline Gardia-Parge Barbara Chiavarina Marina Grimaldi Sbastien Le Mvel Pauline Blanc David Huang Jakub Gruszczyk Barbara Demeneix Sarah Cianfrani Jean-Baptiste Fini Patrick Balaguer William Bourguet 《Proceedings of the National Academy of Sciences of the United States of America》2021,118(1)
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Pouclet H Lebouvier T Flamant M Coron E Neunlist M Derkinderen P Rouaud T 《Presse medicale (Paris, France : 1983)》2012,41(7-8):695-701
No validated biomarker is yet available for Parkinson's disease (PD). Clinical PD symptoms include dopa-responsive motor symptoms and dopa-resistant non motor symptoms. Some of the non motor symptoms begin during the premotor stage, like constipation, hyposmia or REM-sleep disorders. Dementia, gait disorders and dysarthria occur in later stages of the disease. PD pathology extends well beyond the substantia nigra. It affects autonomic and non autonomic nuclei in the brainstem and in the medulla, the olfactory bulb and the peripheral autonomic nervous system. Alpha-synuclein aggregates, called Lewy bodies and Lewy neurites, are detectable in these structures at early stages. The study of the enteric nervous system (ENS) displays the Lewy pathology in living patients through the digestive biopsies. Minor salivary glands analysis could be a good marker as well, but this needs confirmation. An anatomopathologic PD biomarker would be interesting at different stages of PD: for the positive diagnosis, to follow the progression and to develop neuroprotective treatments. 相似文献