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The GLOMULIN gene (GLMN), which codes for a protein of the same name, was identified in the laboratory of Prof Miika Vikkula, where this thesis was undertaken. This gene, when mutated, is responsible for a particular sub-type of vascular anomaly: glomuvenous malformations (GVM). GVMs are cutaneous lesions charaterized by enlarged venous channels, surrounded by abnormally-differentiated vascular smooth muscle cells (vSMCs), called “glomus cells”. GLOMULIN protein is normally expressed by vSMCs, and seems to play a role in their differentiation, through interactions with components of the TGFb and HGF signaling pathways. A variety of double-hits that cause complete localized absence of GLOMULIN, have been identified in the context of GVM lesions. While studies have yielded many insights into the nature of this molecule, the precise function of GLOMULIN remains to be unravelled. The aim of this thesis, therefore, was a detailed assessment of GLOMULIN expression, in order to further our understanding of the protein and its functions.
In the course of this study, we characterized a commercially available antibody to GLOMULIN, which we then used in order to analyze expression of the protein in healthy and GVM-tissue by immunohistochemistry. The antibody being specific for the human protein, we studied Glmn expression during development using in situ hybridization instead, to assess for RNA-expression in paraffin-sections derived from mouse embryos. Thus, the expression of this molecule in wild-type mice at different developmental stages, was compared to that of a variety of other vSMCmarkers, tools which will allow for better characterization of GLOMULIN expression in human tissues, as well as in knock-out and transgenic mice Le gène GLOMULINE (GLMN), codant pour une protéine du même nom, a été identifié au sein du laboratoire hôte de ce mémoire. Ce gène, lorsqu’il est muté, est responsable d’un sous-type d’anomalies vasculaires : les malformations glomuveineuses (GVM). Les GVM sont des lésions cutanées qui se caractérisent par un élargissement des canaux veineux et par la présence, autour de ces vaisseaux, de cellules musculaires lisses mal différenciées, nommées cellules glomiques. La protéine GLOMULINE est normalement exprimée par les cellules musculaires lisses vasculaires. Il semble que cette protéine joue un rôle dans la différenciation de ces cellules en interagissant avec des éléments des voies de signalisation du TGFβ et du HGF. Il a également été identifié, au sein des lésions glomuveineuses, différents doubles hits qui entrainent une absence localisée de la GLOMULINE. Malgré les connaissances que nous possédons sur ce gène et sa protéine, la fonction de la GLMN reste encore méconnue. Le but de ce mémoire était, dès lors, d’acquérir une connaissance plus précise sur l’expression de cette protéine, afin que nous puissions par la suite mieux comprendre sa (ses) fonction(s).
Au cours ce mémoire, nous avons caractérisé un anticorps commercial dirigé contre la GLOMULINE, afin d’analyser par immunohistochimie l’expression de cette protéine dans des tissus sains et pathologiques. Cet anticorps ne reconnaissant que la protéine humaine, nous avons également adapté la technique d’hybridation in situ pour caractériser l’expression de l’ARN de Glmn sur des coupes en paraffine d’embryons de souris. L’expression de la Glmn, chez des souris sauvages à différents stades embryonnaires, a été comparée à celle d’autres marqueurs de cellules musculaires lisses. Ces outils pourront, par la suite, être utilisés pour compléter la caractérisation de l’expression de la GLOMULINE, d’une part dans les tissus humains, et d’autres part chez les souris knock out et transgéniques

GLMN protein, human --- Central Nervous System Vascular Malformations --- Vascular Diseases --- Transforming Growth Factor beta --- Myocytes, Smooth Muscle

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This book aims to provide the trainee and practicing minimally invasive neurological therapist with a comprehensive understanding of the background science and theory that forms the foundation of their work. The contents are based on the tutorial teaching techniques used at the University of Oxford and are authored by the MSc Course Director. The tutorial is a learning episode focussed on a particular topic and intended to guide the student/reader through the background literature, to highlight the research on which standard practices are based and to provide the insights of an experienced practitioner. Each chapter of the book covers a different topic to build a complete review of the subspecialty, with in-depth discussion of all currently used techniques. The literature is reviewed and presented in context to illustrate its importance to the practice of this rapidly expanding field of medical treatment.

Blood-vessels -- Endoscopic surgery. --- Cerebrovascular disease -- Surgery. --- Nervous system -- Surgery. --- Vascular Malformations --- Radiography --- Nervous System Malformations --- Surgical Procedures, Operative --- Vascular Diseases --- Diagnostic Techniques, Neurological --- Vascular Surgical Procedures --- Surgical Procedures, Minimally Invasive --- Brain Diseases --- Diagnostic Imaging --- Cardiovascular Diseases --- Cardiovascular Surgical Procedures --- Central Nervous System Diseases --- Cardiovascular Abnormalities --- Diagnostic Techniques and Procedures --- Nervous System Diseases --- Congenital Abnormalities --- Analytical, Diagnostic and Therapeutic Techniques and Equipment --- Diagnosis --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Diseases --- Cerebrovascular Disorders --- Central Nervous System Vascular Malformations --- Endovascular Procedures --- Neurosurgical Procedures --- Neuroradiography --- Medicine --- Surgery & Anesthesiology --- Health & Biological Sciences --- Surgery - General and By Type --- Radiology, MRI, Ultrasonography & Medical Physics --- Cerebrovascular disease --- Blood-vessels --- Nervous system --- Interventional radiology. --- Endoscopic surgery. --- Radiography. --- Surgery. --- Nerves --- Neurosurgery --- Neuroradiology --- Endovascular surgery --- Apoplexy --- Brain --- Cerebral circulation disorders --- Cerebral vascular accident --- Cerebrovascular accident --- Cerebrovascular disorders --- Cerebrovascular syndrome --- CVA (Disease) --- Stroke --- Surgery --- Medicine. --- Neuroradiology. --- Neurology. --- Neurosurgery. --- Minimally invasive surgery. --- Medicine & Public Health. --- Minimally Invasive Surgery. --- Neglect (Neurology) --- Radiology, Medical. --- Endosurgery --- Minimal access surgery --- Minimally invasive surgery --- MIS (Minimally invasive surgery) --- Operative endoscopy --- Surgical endoscopy --- Endoscopy --- Microsurgery --- Surgery, Operative --- Neuropsychiatry --- Clinical radiology --- Radiology, Medical --- Radiology (Medicine) --- Medical physics --- Neurology .