Results 41 to 50 of about 24,908 (251)

The novel missense mutation Met48Lys in FKBP22 changes its structure and functions. [PDF]

, 2020
Mutations in the FKBP14 gene encoding FKBP22 (FK506 Binding Protein 22 kDa) cause kyphoscoliotic Ehlers-Danlos Syndrome (kEDS). The first clinical report showed that a lack of FKBP22 protein due to mutations causing nonsense-mediated decay of the mRNA ...
Bächinger, Hans Peter, Giunta, Cecilia, Gould, Douglas B, Holden, Paul, Ishikawa, Yoshihiro, Lim, Pei Jin, Mizuno, Nobuyo, Rohrbach, Marianne   +7 more
core  

Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. [PDF]

, 2013
Classic Ehlers-Danlos syndrome (cEDS) is a rare autosomal dominant connective tissue disorder that is primarily characterized by skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility.
Calzavara Pinton P., Chiarelli N., Colombi M., Dordoni C., Garavelli L., Manfredini E., Quinzani S., Ritelli M., Traversa M., Vascellaro A., Venturini M., Wischmeijer A., Zoppi N.   +12 more
core   +1 more source

Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers–Danlos syndrome or hypermobility syndrome and their siblings [PDF]

, 2016
Background: To assess the risk of psychiatric disorders in Ehlers-Danlos syndrome (EDS) and hypermobility syndrome. Methods: Nationwide population-based matched cohort study. EDS, hypermobility syndrome and psychiatric disorders were identified through
Almqvist, C., Cederlof, M., Larsson, H., Lichtenstein, P., Ludvigsson, J.F., Serlachius, E.   +5 more
core   +8 more sources

A unique collaborative model providing supportive and self-advocacy tools to the rare disease community

Rare
The National Ehlers-Danlos Syndromes (EDS) service is a highly specialised NHS commissioned service for diagnosing and supporting people with a rare, monogenic type of EDS.
Juliette M. Harris, Jacqui Fish, Jared Griffin, Gemma Hasnaoui, Clare Stacey, Neeti Ghali, Fleur S. van Dijk   +6 more
doaj   +1 more source

Síndroma de Ehlers-Danlos – Uma causa rara de pneumotórax espontâneo

Revista Portuguesa de Pneumologia, 2006
Resumo: A síndroma de Ehlers-Danlos (cutis hyperelastica), constitui uma patologia do tecido conjuntivo caracterizada por alterações da pele, ligamentos e órgãos internos.Apresenta transmissão hereditária, em geral autossómica dominante.
Carlos Lopes, Alda Manique, Renato Sotto-Mayor, Jorge Cruz, Margarida Mendes de Almeida, João Cravino, A Bugalho de Almeida   +6 more
doaj   +1 more source

Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about [PDF]

, 2013
The Ehlers Danlos syndromes (EDS) comprise a group of connective tissue disorders characterized by tissue fragility of the skin, ligaments, blood vessels and internal organs.
Karaa, Amel, Stoler, Joan M.
core   +3 more sources

Surgical treatment of aortic aneurysms in a patient with Ehlers-Danlos syndrome [PDF]

, 2010
Ehlers-Danlos syndrome IS a rare inherited disorder of the connective tissue that has been divided Into 10 types according to the clinical course and Inheritance In type IV Ehlers-Danlos syndrome extreme fragility of the arteries Is associated with ...
Anguseva, Tanja, Belostotsky, Vladimir, Hristov, Nikola, Mitrev, Zan   +3 more
core  

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

Rates of mental health concerns among individuals assessed at the GoodHope Ehlers-Danlos Syndrome Clinic

Orphanet Journal of Rare Diseases
Past research has indicated that individuals with Ehlers-Danlos Syndromes (EDS) and Generalized Hypermobililty Spectrum Disorder (G-HSD) report psychological and psychiatric symptoms, particularly anxiety disorders and depressive symptoms, at much ...
P. Maxwell Slepian, Kristina Axenova, Molly McCarthy, Rachel Siegal, Keisha Gobin, Aliza Weinrib, Stephanie Buryk-Iggers, Daniel Santa Mina, Laura McGillis, Nimish Mittal, Joel Katz, Hance Clarke   +11 more
doaj   +1 more source