1,721,037 research outputs found
The genetics of anorectal malformations: A complex matter
No full textBecause the spectrum of anorectal malformations is wide, genetic investigations of these anomalies should include the study of multigenic models presenting variable penetrance and expressivity. Current knowledge in clinical genetics, cytogenetics, and molecular genetics of anorectal anomalies are reviewed. The analysis of associated anomalies (that are found in more than 60% of anorectal malformations) is an important aspect of the molecular study, because the association of anomalies with mendelian transmission or with a recognized causative gene can be an essential starting point for further investigations. In the present study, the authors focus on associated secret anomalies, urethral malformations, and intestinal dysganglionoses. In particular, associated sacral anomalies could be a partial expression of the Currarino syndrome, which represents the only association for which genetic evidence has been demonstrated by linkage analysis. The authors studied a four-generation pedigree with recurrence of the Currarino syndrome, and the haplotype reconstruction confirmed that the gene segregating in this family is located in the 7q36 region. The collection and study of families with multiple cases of anorectal malformations could show whether different phenotypes are caused by single genes.Because the spectrum of anorectal malformations is wide, genetic investigations of these anomalies should include the study of multigenic models presenting variable penetrance and expressivity. Current knowledge in clinical genetics, cytogenetics, and molecular genetics of anorectal anomalies are reviewed. The analysis of associated anomalies (that are found in more than 60% of anorectal malformations) is an important aspect of the molecular study, because the association of anomalies with mendelian transmission or with a recognized causative gene can be an essential starting point for further investigations. In the present study, the authors focus on associated secret anomalies, urethral malformations, and intestinal dysganglionoses. In particular, associated sacral anomalies could be a partial expression of the Currarino syndrome, which represents the only association for which genetic evidence has been demonstrated by linkage analysis. The authors studied a four-generation pedigree with recurrence of the Currarino syndrome, and the haplotype reconstruction confirmed that the gene segregating in this family is located in the 7q36 region. The collection and study of families with multiple cases of anorectal malformations could show whether different phenotypes are caused by single genes
DRG Neuron/Schwann Cells Myelinating Cocultures
No full textOur understanding of the processes controlling peripheral nervous system myelination have been significantly benefited by the development of an in vitro myelinating culture system in which primary Schwann cells are cocultured together with primary sensory neurons. In this chapter, we describe the protocol currently used in our laboratories to establish Schwann cells neuronal myelinating cocultures. We also include a detailed description of the various substrates that can be used to establish it
A NEW X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA LEADING TO PROGRESSIVE RENAL-FAILURE
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A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2
No full textA novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'
No full textMyotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology
No full textMyotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system
No full textMyotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases
No full textThe myotubularin family is a large eukaryotic group within the tyrosine/dual-specificity phosphatase super-family (PTP/DSP). Among the 14 human members, three are mutated in genetic diseases: myotubular myopathy and two forms of Charcot–Marie–Tooth neuropathy. We present an analysis of the myotubularin family in sequenced genomes. The myotubularin family encompasses catalytically active and inactive phosphatases, and both classes are well conserved from nematode to man. Catalytically active myotubularins dephosphorylate phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns3,5P2, leading to the production of PtdIns and PtdIns5P. This activity may be modulated by direct interaction with catalytically inactive myotubularins. These phosphoinositides are signaling molecules that are notably involved in vacuolar transport and membrane trafficking. Myotubularins are thus proposed to be implicated in these cellular mechanisms, and recent observations on myotubularins homologues in the nematode Caenorhabditis elegans indicate a role in endocytosis
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