المؤلفون: Jun Zhang, Jacob Croft, Alexander Le

المصدر: Journal of Personalized Medicine; Volume 13; Issue 4; Pages: 673

مصطلحات موضوعية: Cerebral cavernous malformations (CCMs), CCM signaling complex (CSC), familial CCM (fCCM), sporadic CCM (sCCM), phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit p110α (PIK3CA), tumor driver mutations, tumor passenger mutations, gain-of-function (GOF), PIK3CA-related overgrowth spectrum (PROS), vascular malformations (VMs), venous malformations (VeMs), developmental venous anomalies (DVAs)

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/jpm13040673Test

الإتاحة: https://doi.org/10.3390/jpm13040673Test

المؤلفون: Karina Forde, Nicoletta Resta, Carlotta Ranieri, David Rea, Olga Kubassova, Mark Hinton, Katrina A. Andrews, Robert Semple, Alan D. Irvine, Veronika Dvorakova

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: PIK3CA-related overgrowth spectrum (PROS), Miransertib, AKT inhibitor, Next generation sequencing (NGS), Targeted treatment, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/cd73f846ef4b4cc79e3cc027617d1e68Test

المؤلفون: Faivre, L., Crépin, J. C., Réda, M., Nambot, S., Carmignac, V., Abadie, C., Mirault, T., Faure-Conter, C., Mazereeuw-Hautier, J., Maza, A., Puzenat, E., Collonge-Rame, M. A., Bursztejn, A. C., Philippe, C., Thauvin-Robinet, C., Chevarin, M., Abasq-Thomas, C., Amiel, J., Arpin, S., Barbarot, S., Baujat, G., Bessis, D., Bourrat, E., Boute, O., Chassaing, N., Coubes, C., Demeer, B., Edery, P., El Chehadeh, S., Goldenberg, A., Hadj-Rabia, S., Haye, D., Isidor, B., Jacquemont, M. L., Van Kien, P. K., Lacombe, D., Lehalle, D., Lambert, L., Martin, L., Maruani, A., Morice-Picard, F., Petit, F., Phan, A., Pinson, L., Rossi, M., Touraine, R., Vanlerberghe, Clemence, Vincent, M., Vincent-Delorme, C., Whalen, S., Willems, M., Marle, N., Verkarre, V., Devalland, C., Devouassoux-Shisheboran, M., Abad, M., Rioux-Leclercq, N., Bonniaud, B., Duffourd, Y., Martel, J., Binquet, C., Kuentz, P., Vabres, P.

المساهمون: Université de Lille, CHU Lille, FHU TRANSLAD (CHU de Dijon), Génétique des anomalies du développement (CTM UMR 1231) GAD, CHU Dijon, Centre de référence national des Maladies Génétiques à Expression Cutanée - National Reference Center for Genodermatoses and Rare Skin Diseases MAGEC, Centre Régional de Lutte contre le cancer Georges-François Leclerc Dijon UNICANCER/CRLCC-CGFL, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Paris-Centre de Recherche Cardiovasculaire PARCC (UMR_S 970/ U970), Institut d'hématologie et d'oncologie pédiatrique CHU - HCL IHOPe, Centre Hospitalier Universitaire de Toulouse CHU Toulouse, Service Dermatologie CHU Toulouse, Département de dermatologie, Centre Hospitalier Régional Universitaire de Besançon CHRU Besançon, Centre Hospitalier Régional Universitaire de Nancy CHRU Nancy, Service de Dermatologie et Allergologie CHRU Nancy, Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) UF6254, Hôpital Morvan - CHRU de Brest CHU - BREST, Centre hospitalier universitaire de Nantes CHU Nantes, Centre Hospitalier Régional Universitaire Montpellier CHRU Montpellier, Hôpital Necker - Enfants Malades AP-HP, Imagine - Institut des maladies génétiques (IHU) Imagine - U1163, Centre Hospitalier Universitaire d'Angers CHU Angers, Centre Hospitalier Universitaire de Saint-Etienne CHU Saint-Etienne CHU ST-E, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME

مصطلحات موضوعية: Wilms tumor, PIK3CA-related overgrowth spectrum (PROS), PIK3CA, cancer

العلاقة: Clinical Genetics; Clin Genet; http://hdl.handle.net/20.500.12210/88468Test

الإتاحة: https://doi.org/20.500.12210/88468Test
https://hdl.handle.net/20.500.12210/88468Test

المؤلفون: Forde, Karina, Resta, Nicoletta, Ranieri, Carlotta, Rea, David, Kubassova, Olga, Hinton, Mark, Andrews, Katrina A, Semple, Robert, Irvine, Alan D, Dvorakova, Veronika

مصطلحات موضوعية: AKT inhibitor, Miransertib, Next generation sequencing (NGS), PIK3CA-related overgrowth spectrum (PROS), Targeted treatment, Aminopyridines, Child, Class I Phosphatidylinositol 3-Kinases, Humans, Imidazoles, Mutation, Phosphatidylinositol 3-Kinases, Proto-Oncogene Proteins c-akt, Quality of Life

وصف الملف: text/xml; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/318219Test

الإتاحة: https://doi.org/10.17863/CAM.65336Test
https://www.repository.cam.ac.uk/handle/1810/318219Test

المؤلفون: Jessica R. Griff, Kelly A. Duffy, Jennifer M. Kalish

المصدر: Frontiers in Pediatrics, Vol 8 (2020)

مصطلحات موضوعية: lateralized overgrowth, hemihypertrophy, hemihyperplasia, Beckwith-Wiedemann spectrum, Beckwith-Wiedemann syndrome (BWS), PIK3CA-related overgrowth spectrum (PROS), Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2020.613260/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/cd04df4b231a43028dd4aaf403ee9de0Test

المؤلفون: Faivre, Laurence, Crépin, Jean‐charles, Réda, Manon, Nambot, Sophie, Carmignac, Virginie, Abadie, Caroline, Mirault, Tristan, Faure-Conter, Cécile, Mazereeuw-Hautier, Juliette, Maza, Aude, Puzenat, Eve, Collonge-Rame, Marie‐agnès, Bursztejn, Anne‐claire, Philippe, Christophe, Thauvin-Robinet, Christel, Chevarin, Martin, Abasq-Thomas, Claire, Amiel, Jeanne, Arpin, Stéphanie, Barbarot, Sébastien, Baujat, Geneviève, Bessis, Didier, Bourrat, Emmanuelle, Boute, Odile, Chassaing, Nicolas, Coubes, Christine, Demeer, Bénédicte, Edery, Patrick, El Chehadeh, Salima, Goldenberg, Alice, Hadj-Rabia, Smail, Haye, Damien, Isidor, Bertrand, Jacquemont, Marie‐line, van Kien, Philippe Khau, Lacombe, Didier, Lehalle, Daphné, Lambert, Laetitia, Martin, Ludovic, Maruani, Annabel, Morice-Picard, Fanny, Petit, Florence, Phan, Alice, Pinson, Lucile, Rossi, Massimiliano, Touraine, Renaud, Vanlerberghe, Clémence, Vincent, Marie, Vincent-Delorme, Catherine, Whalen, Sandra, Willems, Marjolaine, Marle, Nathalie, Verkarre, Virginie, Devalland, Christine, Devouassoux-Shisheboran, Mojgan, Abad, Marine, Rioux-Leclercq, Nathalie, Bonniaud, Bertille, Duffourd, Yannis, Martel, Jehanne, Binquet, Christine, Kuentz, Paul, Vabres, Pierre

المساهمون: Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Université Paris Cité (UPCité), Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ U970)), Hôpital Européen Georges Pompidou APHP (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Centre Léon Bérard Lyon, Centre de référence des maladies rares de la peau et des muqueuses d’origine génétique CHU Toulouse (CRMRP), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Département de dermatologie, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Hôpital Saint-Jacques-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté COMUE (UBFC)-Université Bourgogne Franche-Comté COMUE (UBFC), Laboratoire de génétique, Laboratoire sur les interactions Epithéliums Neurones (LIEN), Université de Brest (UBO), Service de Génétique Médicale CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de génétique Tours, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Physiopathologie des Adaptations Nutritionnelles (PhAN), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), CHU Amiens-Picardie, CHirurgie, IMagerie et REgénération tissulaire de l’extrémité céphalique - Caractérisation morphologique et fonctionnelle - UR UPJV 7516 (CHIMERE), Université de Picardie Jules Verne (UPJV), Institut des Biomolécules Max Mousseron Pôle Chimie Balard (IBMM), Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Ecole Nationale Supérieure de Chimie de Montpellier (ENSCM), Université de Montpellier (UM), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)

المصدر: ISSN: 0009-9163.

مصطلحات موضوعية: PIK3CA, PIK3CA-related overgrowth spectrum (PROS), Wilms tumor, cancer, [SDV.CAN]Life Sciences [q-bio]/Cancer

العلاقة: hal-04182832; https://u-picardie.hal.science/hal-04182832Test

الإتاحة: https://doi.org/10.1111/cge.14410Test
https://u-picardie.hal.science/hal-04182832Test

المؤلفون: David Rea, M. Hinton, Katrina A. Andrews, Olga Kubassova, Karina Forde, Nicoletta Resta, Veronika Dvorakova, Carlotta Ranieri, Alan D. Irvine, Robert K. Semple

المساهمون: Irvine, Alan D [0000-0002-9048-2044], Apollo - University of Cambridge Repository

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Orphanet Journal of Rare Diseases
Forde, K, Resta, N, Ranieri, C, Rea, D, Kubassova, O, Hinton, M, Andrews, K A, Semple, R K, Irvine, A D & Dvorakova, V 2021, ' Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome ', Orphanet journal of rare diseases . https://doi.org/10.1186/s13023-021-01745-0Test

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Hemimegalencephaly, Class I Phosphatidylinositol 3-Kinases, Lipomatosis, PIK3CA-related overgrowth spectrum (PROS), Aminopyridines, lcsh:Medicine, Dysfunctional family, AKT inhibitor, Phosphatidylinositol 3-Kinases, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Targeted treatment, Internal medicine, medicine, Humans, Pharmacology (medical), Child, Obstructive uropathy, Genetics (clinical), business.industry, Research, lcsh:R, Imidazoles, Chronic pain, General Medicine, medicine.disease, Proteus syndrome, 3. Good health, 030104 developmental biology, Next generation sequencing (NGS), 030220 oncology & carcinogenesis, Overgrowth syndrome, Mutation, Quality of Life, business, Proto-Oncogene Proteins c-akt, Miransertib

وصف الملف: application/pdf; text/xml

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::694607431990135ed59ddf9232e3a704Test
https://doaj.org/article/cd73f846ef4b4cc79e3cc027617d1e68Test

المؤلفون: Morandi G., Piona C., Degani D., El Hachem M., Resta N., Richelli C., Lauriola S.

المساهمون: Morandi, G., Piona, C., Degani, D., El Hachem, M., Resta, N., Richelli, C., Lauriola, S.

مصطلحات موضوعية: differential diagnosi, neonatal malformation, pik3ca-related overgrowth spectrum (pros) disorder

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29490900; info:eu-repo/semantics/altIdentifier/wos/WOS:000471811300007; volume:104; issue:2; firstpage:97; lastpage:98; numberofpages:2; journal:ARCHIVES OF DISEASE IN CHILDHOOD. EDUCATION AND PRACTICE EDITION; http://hdl.handle.net/11586/273327Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85049108713

الإتاحة: https://doi.org/10.1136/archdischild-2017-314021Test
http://hdl.handle.net/11586/273327Test

المؤلفون: Yasushi Enokido, Kumiko Kuwata, Tsuyoshi Morishita, Yasuyo Suzuki, Kenichiro Yamada, Naoki Hanada, Mie Inaba, Nobuaki Wakamatsu, Seiji Mizuno

المصدر: Oncotarget

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Class I Phosphatidylinositol 3-Kinases, Somatic cell, DNA Mutational Analysis, PIK3CA-related overgrowth spectrum (PROS), Phosphatidylinositol 3-Kinases, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Fibroblast, Protein kinase B, Genetic Association Studies, Growth Disorders, PI3K/AKT/mTOR pathway, Aspirin, Dose-Response Relationship, Drug, Cell growth, business.industry, TOR Serine-Threonine Kinases, PI3-kinase, Imidazoles, Fibroblasts, Hyperplasia, medicine.disease, Metformin, heterozygous mosaic mutation, Phenotype, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, Oncology, Child, Preschool, 030220 oncology & carcinogenesis, Mutation, mTOR, Quinolines, Phosphorylation, Female, business, Proto-Oncogene Proteins c-akt, Research Paper, Signal Transduction, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39672f09ab1262009f03ce192a390527Test
https://doi.org/10.18632/oncotarget.17566Test

المصدر: A Multicenter, Open-label, Phase 2, Extension Trial to Study the Long-term Safety in Participants With PROS or Proteus Syndrome Who Are Currently Being Treated With Miransertib in Other Studies

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT04980872Test

Other URLs: http://merckoncologyclinicaltrials.comTest
https://trialstransparency.merckclinicaltrials.com/Study.aspx?id=7075-006&kw=7075-006Test