A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder
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R. Carlier | P. de Mazancourt | K. Bénistan | P. Richard | A. Mekki | V. Allamand | C. Michot | Malika Foy | F. Gillas | C. Gartioux | C. Métay | Nawel Miri | V. Jobic
[1] W. Reardon,et al. COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap , 2019, Clinical genetics.
[2] X. Jeunemaître,et al. Classical Ehlers‐Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant , 2019, Clinical genetics.
[3] J. Parisi,et al. Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. , 2018, American journal of human genetics.
[4] F. Malfait,et al. Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review , 2017, Genetics in Medicine.
[5] R. Grahame,et al. Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history , 2017, American journal of medical genetics. Part C, Seminars in medical genetics.
[6] J. Belmont,et al. The 2017 international classification of the Ehlers–Danlos syndromes , 2017, American journal of medical genetics. Part C, Seminars in medical genetics.
[7] M. Venturini,et al. Delineation of Ehlers–Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three‐generation family without cardiovascular events, and literature review , 2017, American journal of medical genetics. Part A.
[8] J. Morton,et al. Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers–Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis , 2015, Human mutation.
[9] B. Tinkle,et al. Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype. , 2015, Annals of vascular surgery.
[10] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[11] G. Mortier,et al. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome , 2013, Orphanet Journal of Rare Diseases.
[12] J. Fallas,et al. Structural Insights into Charge Pair Interactions in Triple Helical Collagen-like Proteins* , 2011, The Journal of Biological Chemistry.
[13] J. Fallas,et al. Solution Structure of an ABC Collagen Heterotrimer Reveals a Single-register Helix Stabilized by Electrostatic Interactions* , 2009, The Journal of Biological Chemistry.
[14] A. De Paepe,et al. Three arginine to cysteine substitutions in the pro‐alpha (I)‐collagen chain cause Ehlers‐Danlos syndrome with a propensity to arterial rupture in early adulthood , 2007, Human mutation.
[15] F. Glorieux,et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans , 2007, Human mutation.
[16] J. Ramshaw,et al. Prediction of Collagen Stability from Amino Acid Sequence* , 2005, Journal of Biological Chemistry.
[17] G. Pals,et al. Mutations Near Amino End of α1(I) Collagen Cause Combined Osteogenesis Imperfecta/Ehlers-Danlos Syndrome by Interference with N-propeptide Processing* , 2005, Journal of Biological Chemistry.
[18] B. Hamel,et al. Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. , 2003, American journal of human genetics.
[19] Luigi Vitagliano,et al. Recent progress on collagen triple helix structure, stability and assembly. , 2002, Protein and peptide letters.
[20] Shawn M. Sweeney,et al. Mapping the Ligand-binding Sites and Disease-associated Mutations on the Most Abundant Protein in the Human, Type I Collagen* , 2002, The Journal of Biological Chemistry.
[21] E. Leikina,et al. Type I collagen is thermally unstable at body temperature , 2002, Proceedings of the National Academy of Sciences of the United States of America.
[22] M. Wright,et al. Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII , 2000, Journal of medical genetics.
[23] L. Lagae,et al. Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. , 2000, American journal of human genetics.
[24] Helen M. Berman,et al. Sequence dependent conformational variations of collagen triple-helical structure , 1999, Nature Structural Biology.
[25] S. Krane,et al. Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. , 1997, American journal of medical genetics.
[26] K. Kadler,et al. Assembly of type I collagen fibrils de novo. Between 37 and 41 degrees C the process is limited by micro-unfolding of monomers. , 1988, The Journal of biological chemistry.