نتائج البحث - "valve dysplasia"

1

Dual role for CXCL12 signaling in semilunar valve development

المؤلفون: Dania Kewbank, Ralf Stumm, Peter J. Scambler, Liam A. Ridge, Sarah Ivins, Dagmar Schütz

المصدر: Cell Reports
Cell Reports, Vol 36, Iss 8, Pp 109610-(2021)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9dd544579ba4c15060ac8ce56064d89Test
http://europepmc.org/articles/PMC8411116Test

2

Critical Structural Defects Explain Filamin A Mutations Causing Mitral Valve Dysplasia

المؤلفون: Maarit Hellman, Perttu Permi, Ulla Pentikäinen, Simon Lecointe, Tatu Haataja, Jean Mérot, Romain Capoulade

المساهمون: Centre de Recherche de l’Institut Universitaire de Cardiologie et de Pneumologie de Québec, Laval University, Montréal, QC G1V 4G5, Canada, unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), University of Helsinki

المصدر: Biophysical Journal
Biophysical Journal, Biophysical Society, 2019, 117 (8), pp.1467-1475. ⟨10.1016/j.bpj.2019.08.032⟩
Biophys J

مصطلحات موضوعية: Protein Folding, dysplasiat, Filamins, [SDV]Life Sciences [q-bio], Population, Protein Tyrosine Phosphatase, Non-Receptor Type 12, Biophysics, Mutation, Missense, synnynnäiset sydänviat, Protein tyrosine phosphatase, Biology, Molecular Dynamics Simulation, medicine.disease_cause, Filamin, 03 medical and health sciences, 0302 clinical medicine, mitral valve dysplasia, Mitral valve, medicine, FLNA, Missense mutation, Humans, education, Gene, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, education.field_of_study, Binding Sites, Mitral Valve Prolapse, critical structural defects, hiippaläppä, filamiinit, Articles, 3. Good health, medicine.anatomical_structure, cardiovascular system, filamin A mutations, geneettiset tekijät, mutaatiot, 030217 neurology & neurosurgery, Protein Binding

وصف الملف: application/pdf; fulltext

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::305fa7a967fff21b0c0cbc2ac4265068Test
https://hal.archives-ouvertes.fr/hal-02332272Test

3

FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease

المؤلفون: Emilie Faure, Nicole Philip, Tiffany Busa, Caroline Ovaert, Loïc Macé, Mathieu Milh, Florent Paoli, Chantal Missirian, Stéphane Zaffran

المساهمون: Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS)

المصدر: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2017, 173 (9), pp.2489-2493. ⟨10.1002/ajmg.a.38331⟩
American Journal of Medical Genetics Part A, Wiley, 2017, 173 (9), pp.2489-2493. ⟨10.1002/ajmg.a.38331⟩

مصطلحات موضوعية: Heart Defects, Congenital, 0301 basic medicine, Aortic valve disease, Aortic valve, medicine.medical_specialty, Heart Valve Diseases, Haploinsufficiency, 6p25 deletion, 03 medical and health sciences, 0302 clinical medicine, Bicuspid Aortic Valve Disease, Aortic valve replacement, Internal medicine, medicine, Humans, Abnormalities, Multiple, genetics, Eye Abnormalities, Genetics (clinical), Cardiac lesion, Genetics, biology, business.industry, Forkhead Transcription Factors, aortic valve disease, medicine.disease, Facial appearance, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Gene Expression Regulation, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Aortic Valve, Child, Preschool, cardiovascular system, 030221 ophthalmology & optometry, Cardiology, biology.protein, Chromosomes, Human, Pair 6, Female, FOXC1, Chromosome Deletion, business, FOXC2, Aortic valve dysplasia