Results 91 to 100 of about 5,906 (226)

Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree [PDF]

, 2018
Background: Thoracic aortic aneurysm (TAA) is a potentially life-threatening disorder with a strong genetic component. The number of genes implicated in TAA has increased exponentially over the last decade.
Bekkers, S.C.A.M., Bouma, B.J. (Berto J.), Cozijnsen, L. (Luc), Duijnhouwer, A.L. (Anthonie L.), Hilhorst-Hofstee, Y. (Yvonne), Kempers, M.J.E. (Marlies), Kerstjens-Frederikse, W.S. (Wilhelmina), Lambermon, E. (Eric), Loeys, B.L. (Bart), Post, J. (Johan), Roos-Hesselink, J.W. (Jolien), van Brakel, T.J. (Thomas J.), van de Laar, I.M.B.H. (Ingrid M.B.H.), Verhagen, J.M.A. (Judith), Wessels, M.W. (Marja)   +14 more
core   +1 more source

Congenital cutis laxa syndrome: type II autosomal recessive inheritance

The Turkish Journal of Pediatrics, 2003
Cutis laxa is a term that refers to markedly loose skin that is not hyperelastic. It is regarded as a genetically heterogeneous group of diseases and is presently divided into five types.
Beyhan Tüysüz, Müjde Arapoğlu, Barbaros Ilikkan, Cuyan Demirkesen, Yildiz Perk   +4 more
doaj  

D-penicillamine induced degenerative dermopathy

Indian Journal of Dermatology, 2015
D-penicillamine interferes with elastin and collagen metabolism and produces several cutaneous and multi-systemic side-effects. We present two cases of Wilson′s disease who on long-term penicillamine therapy developed drug-induced degenerative dermopathy
Sujay Khandpur, Naresh Jain, Shweta Singla, Priti Chatterjee, Madhuri Behari   +4 more
doaj   +1 more source

Meretoja's Syndrome: Lattice Corneal Dystrophy, Gelsolin Type [PDF]

, 2017
Lattice corneal dystrophy gelsolin type was first described in 1969 by Jouko Meretoja, a Finnish ophthalmologist. It is caused by an autosomal dominant mutation in gelsolin gene resulting in unstable protein fragments and amyloid deposition in various ...
Abreu, C., Beirão, João, Casal, I., Monteiro, S., Neves, M., Oliveira, L.   +5 more
core   +3 more sources

Elastólise pós-inflamatória e cutis laxa (doença de James Marshall): estudo de casos Post-inflammatory elastolysis and cutis laxa (James Marshall disease): case study

Anais Brasileiros de Dermatologia, 2007
FUNDAMENTOS: Elastólise pós-inflamatória e cutis laxa são doenças raras, porém só o Estado de Minas Gerais responde por quase um terço dos casos relatados em todo o mundo. Também são escassos os trabalhos com seguimento dos pacientes.
Claudemir Roberto Aguilar, Bernardo Gontijo, Everton Carlos Siviero do Vale   +2 more
doaj   +1 more source

Extra-renal locations of the a4 subunit of H+ATPase [PDF]

, 2016
Background Vacuolar-type proton pumps help maintain acid–base homeostasis either within intracellular compartments or at specialised plasma membranes. In mammals they are made up of 13 subunits, which form two functional domains. A number
Golder, Zoe J, Karet Frankl, Fiona E
core   +2 more sources

Washington University Record, April 28, 2006 [PDF]

, 2006
https://digitalcommons.wustl.edu/record/2071/thumbnail ...

core   +1 more source

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations [PDF]

, 2015
BACKGROUND: Genomic disorders resulting from deletion or duplication of genomic segments are known to be an important cause of cardiovascular malformations (CVMs).
Austin, E., Azamian, M., Bacino, C., Belmont, J. W., Bi, W., Bohan, T. P., Burrage, L. C., Cheung, S. W., Franklin, A. I. A., James, R. A., Lalani, S. R., Magoulas, P., Melver, C. H. Ward, Patel, A., Probst, F. J., Rosenfeld, J. A., Shaw, C., Ware, S. M., Xia, F.   +18 more
core   +1 more source

Aspectos clínicos del síndrome de Ehlers-Danlos [PDF]

, 1997
Se realiza una revisión bibliográfica de conjunto de los aspectos clínicos más significativos del síndrome de Ehlers-Danlos. Se recogen datos estadísticos, características raciales, morfotipo e interpretación patogénica actual.
Fernández Fernández, C.I., Fernández Gabarda, Rafael, Rodríguez Collel, J.R.   +2 more
core  

The Dermatan Sulfate Proteoglycan Decorin Modulates α2β1 Integrin and the Vimentin Intermediate Filament System during Collagen Synthesis. [PDF]

, 2012
Decorin, a small leucine-rich proteoglycan harboring a dermatan sulfate chain at its N-terminus, is involved in regulating matrix organization and cell signaling. Loss of the dermatan sulfate of decorin leads to an Ehlers-Danlos syndrome characterized by
Eckes, Beate, Iozzo, Renato V, Jungmann, Oliver, Nikolovska, Katerina, Owens, Rick T, Riethmüller, Christoph, Schulz, Jan-Niklas, Seidler, Daniela G, Stock, Christian   +8 more
core   +4 more sources