Results 51 to 60 of about 11,601 (222)

Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type [PDF]

, 2016
Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), is likely the most common systemic heritable connective tissue disorder, and is mostly recognized by generalized joint hypermobility, joint instability complications ...
Carini, Giulia, Castori, Marco, Chiarelli, Nicola, Colombi, Marina, Dordoni, Chiara, Ritelli, Marco, Venturini, Marina, Zoppi, Nicoletta   +7 more
core   +4 more sources

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type [PDF]

, 2017
Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two overlapping heritable disorders (JHS/EDS-HT) recognized by separated sets of diagnostic criteria and still lack a confirmatory test.
Beighton, Beighton, Castori, Castori, Castori, Castori, Castori, Castori, Castori, Castori, Castori, Castori, Clarkson, De Paepe, De Wandele, Gharbiya, Grahame, Grahame, Greenacre, Hakim, Kirk, Lebart, Loeys, Mayer, Palmer, Remvig, Remvig, Ritelli, Rombaut, Rombaut, Tinkle, Voermans, Voermans, Voermans, Zarate   +34 more
core   +1 more source

Periodontitis treatment and microbiome in a patient with FAM20A mutation: Case study of 1.5 years

Clinical Advances in Periodontics, EarlyView.
Abstract Background Enamel‐renal‐gingival syndrome (ERGS) is an autosomal recessive disorder caused by mutations in the FAMily with sequence similarity 20A (FAM20A) gene, and is characterized by amelogenesis imperfecta, delayed or failed tooth eruption, and periodontitis.
John Rong Hao Tay, Preethi Balan, Chaminda Jayampath Seneviratne   +2 more
wiley   +1 more source

Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis [PDF]

, 2006
Mutations in ADAMTS2, a procollagen amino-propeptidase, cause severe skin fragility, designated as dermatosparaxis in animals, and a subtype of the Ehlers-Danlos syndrome (dermatosparactic type or VIIC) in humans.
Apte, Suneel S, Birk, David E, Colige, Alain, Kesteloot, Frédéric, Le Goff, Carine, Powell, Kimerly, Somerville, Robert PT   +6 more
core   +1 more source

Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature

Journal of Medical Case Reports, 2011
Introduction Colonoscopic perforation is a rare but serious complication of colonoscopy. Factors known to increase the risk of perforation include colonic strictures, extensive diverticulosis, and friable tissues.
Wolfe John, Lloyd Josephine, Purkayastha Sanjay, Aziz Omer, Rana Mariam, Ziprin Paul   +5 more
doaj   +1 more source

Gastric perforation leading to the diagnosis of classic Ehlers–Danlos syndrome: a case report

Journal of Medical Case Reports, 2021
Background Ehlers–Danlos syndrome is a clinically and genetically heterogeneous group of heritable connective tissue disorders caused by a defect in collagen synthesis and structure.
Ahad E. Alotaibi, Ohood H. AlAamer, Mohammed A. Bawazeer, Ali A. Alzahrani   +3 more
doaj   +1 more source

Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant [PDF]

, 2016
BACKGROUND: Ehlers Danlos Syndrome is a rare form of inherited connective tissue disorder, which primarily affects skin, joints, muscle, and blood cells.
Chiavacci, R., Connelly, J. J., Desai, A., Hadley, D., Hakonarson, H., Hou, C., Kim, C., Lyon, G., March, M.   +8 more
core   +1 more source

Arterial complications of vascular Ehlers-Danlos syndrome [PDF]

Journal of Vascular Surgery, 2016
Vascular Ehlers-Danlos syndrome (EDS) is a relatively rare genetic syndrome that occurs owing to disorders in the metabolism of fibrillary collagen. These defects affect the soft connective tissues resulting in abnormalities in the skin, joints, hollow organs, and blood vessels.
openaire   +2 more sources