Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome. by Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Marco Ritelli, Marina Colombi

“…Vascular Ehlers-Danlos syndrome (vEDS) is a dominantly inherited connective tissue disorder caused by mutations in the COL3A1 gene that encodes type III collagen (COLLIII), which is the major expressed collagen in blood vessels and hollow organs. …”
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A case of sigmoid colon perforation due to segmental absence of intestinal musculature (SAIM) accompanied by vascular Ehlers–Danlos syndrome: a case report by Kosuke Funaki, Tomonori Akagi, Hidefumi Shiroshita, Yusuke Itai, Kiminori Watanabe, Takashi Shuto, Yoshitake Ueda, Tsuyoshi Etoh, Shinji Miyamoto, Tsutomu Daa, Masafumi Inomata

“…In this report, we describe a case of perforation of the sigmoid colon due to SAIM accompanied by vascular Ehlers–Danlos syndrome (vEDS), which was successfully treated by surgical therapy. …”
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P.068 A NON-INVASIVE APPROACH TO QUANTIFY VENTRICULAR-ARTERIAL INTERACTION: COMPARING VASCULAR TYPE EHLERS-DANLOS SYNDROME PATIENTS AND NORMAL INDIVIDUALS by K.D. Reesink, E. Hermeling, K.T. Ong, P. Boutouyrie, A.P.G. Hoeks

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Case report: A novel COL3A1 variant in a Colombian patient with isolated cerebrovascular involvement in vascular Ehlers–Danlos syndrome by Valeria Valencia-Cifuentes, Valeria Valencia-Cifuentes, Stiven Ernesto Sinisterra-Díaz, Stiven Ernesto Sinisterra-Díaz, Valentina Quintana-Peña, Valentina Quintana-Peña, Edgar Folleco, Edgar Folleco, José A. Nastasi-Catanese, José A. Nastasi-Catanese, Harry Pachajoa, Harry Pachajoa, Harry Pachajoa, Juan P. Fernández-Cubillos, Juan P. Fernández-Cubillos

Subjects: “…vascular Ehlers–Danlos syndrome…”
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Ehlers–Danlos Syndrome and Hypermobility Syndrome Compared with Other Common Chronic Pain Diagnoses—A Study from the Swedish Quality Registry for Pain Rehabilitation by Peter Molander, Mehmed Novo, Andrea Hållstam, Monika Löfgren, Britt-Marie Stålnacke, Björn Gerdle

Subjects: “…Ehlers–Danlos syndrome…”
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01.02 GEOMETRIC AND ELASTIC PROPERTIES OF THE COMMON CAROTID ARTERY IN VASCULAR EHLERS-DANLOS SYNDROME PATIENTS WITH IDENTIFIED COL3A1 MUTATIONS by K.T. Ong, S. Laurent, J. Perdu, H. Plauchu, D. Germain, P. Collignon, G. Georgesco, E. Bozec, B. Laloux, J. De Backer, X. Jeunemaitre, P. Boutouyrie

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Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities by María José Fajardo-Jiménez, Johanna A. Tejada-Moreno, Alejandro Mejía-García, Andrés Villegas-Lanau, Wildeman Zapata-Builes, Jorge E. Restrepo, Gina P. Cuartas, Juan C. Hernandez

Subjects: “…Ehlers-Danlos syndromes…”
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Reverse-namaskar: A new sign in <i><i><i>Ehlers-Danlos syndrome</i></i></i>: A family pedigree study of four generations by Premalatha S, Sarveswari K, Lahiri Koushik

Subjects: “…Ehlers-Danlos syndrome…”
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Hypersensitivity of myelinated A-fibers via toll-like receptor 5 promotes mechanical allodynia in tenascin-X-deficient mice associated with Ehlers–Danlos syndrome by Hiroki Kamada, Kousuke Emura, Rikuto Yamamoto, Koichi Kawahara, Sadahito Uto, Toshiaki Minami, Seiji Ito, Ken-ichi Matsumoto, Emiko Okuda-Ashitaka

“…Abstract Deficiency of an extracellular matrix glycoprotein tenascin-X (TNX) leads to a human heritable disorder Ehlers–Danlos syndrome, and TNX-deficient patients complain of chronic joint pain, myalgia, paresthesia, and axonal polyneuropathy. …”
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Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases [version 1; peer review: 2 approved] by Alla Nikolaevna Semyachkina, Ekaterina Alexandrovna Nikolaeva, Nailya Mansurovna Galeeva, Alexander Vladimirovich Polyakov, Maria Andreevna Kurnikova, Vera Аlexandrovna Belova, Irina Valerievna Shulyakova, Ilya Sergeevich Dantsev, Goar Vladimirovna Dzhivanshiryan

“…This study deals with a rare (orphan) monogenic connective tissue disorder - Ehlers-Danlos syndrome kyphoscoliotic type 2 (EDSKS2). Kyphoscoliotic type 2 Ehlers-Danlos syndrome is an autosomal recessive disorder caused by mutations in the FKBP14 gene (7p14.3), which encodes the FKBP22 protein. …”
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Otological Features of Patients with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>) by Masayuki Kawakita, Satoshi Iwasaki, Hideaki Moteki, Shin-ya Nishio, Tomoki Kosho, Shin-ichi Usami

Subjects: “…musculocontractural Ehlers–Danlos syndrome…”
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Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers‐Danlos syndrome by Abigail McElroy, Heather Gray‐Edwards, Lyndon M. Coghill, Leslie A. Lyons

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Endovascular treatment of the patient with vascular type of Ehlers–Danlos syndrome with bilateral dissection stenoses and aneurysms in V3- andV4- segments of vertebral arteries by Yu.V. Cherednychenko, A.Yu. Miroshnychenko, L.A. Dzyak, N.A. Zorin, S.P. Grygoruk, E.A. Gavva, A.N. Tolubaiev

Subjects: “…Ehlers–Danlos syndrome, vertebral arteries, dissection damage, stenosis, aneurysm, endovascular treatment, aneurysm embolization, stenting…”
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Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II). by Loughlin, J, Irven, C, Hardwick, L, Butcher, S, Walsh, S, Wordsworth, P, Sykes, B

“…Ehlers-Danlos syndrome (EDS) is a group of heritable disorders of connective tissue with skin, ligaments and blood vessels being the main sites affected. …”

Intraabdominal Hemorrhage Due to Spontaneous Rupture of Superior Mesenteric Artery by Onder Ozden, Ender Fakioglu, Murat Alkan, Hilmi Serdar Iskit

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Tratamento endovascular de aneurisma de tronco braquiocefálico em paciente com síndrome de Ehlers-Danlos tipo IV by Sergio Quilici Belczak, Rafael Kogan Klajner, Lara Cote Ogawa, Laís Leite Lucato, Bruna Stecca Zeque, Felipe Basso de Macedo, Ingredy Tavares da Silva, Luís Felipe Atihe

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Vascular Ehlers‐Danlos syndrome: A null COL3A1 variant found in a patient with loin pain without marked cutaneous features (case report) by Shreenidhi Ranganatha Subramaniam, Lam Fung Yeung, L. Y. Lois Choy, Jeffrey Sung Shing Kwok

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Case report: further delineation of AEBP1-related Ehlers–Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature by Tomomi Yamaguchi, Tomomi Yamaguchi, Tomomi Yamaguchi, Shujiro Hayashi, So Nagai, So Nagai, Akihiko Uchiyama, Sei-Ichiro Motegi, Tomomi Fujikawa, Yuri Takiguchi, Tomoki Kosho, Tomoki Kosho, Tomoki Kosho, Tomoki Kosho

Subjects: “…Ehlers-Danlos Syndrome…”
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Cervicoplastia na flacidez cutânea por síndrome de Ehlers-Danlos: relato de caso Cervicoplasty in cutaneous laxity from Ehlers-Danlos syndrome: a case report by Márcio Rocha Crisóstomo, Victor José Timbó Gondim, André Nunes Benevides, Mara Rocha Crisóstomo, Salustiano Gomes de Pinho Pessoa

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Sudden onset of artery dissection in a 32-year-old woman with vascular Ehlers-Danlos syndrome due to psychological stress of her mother’s death: a case series by Yuichiro Shimoyama, Osamu Umegaki, Tomoyuki Agui, Noriko Kadono, Toshiaki Minami

Subjects: “…Vascular Ehlers-Danlos syndrome…”
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