نتایج جستجو برای: collagen disorder

تعداد نتایج: 655346  

Journal: :Human molecular genetics 2005
Naomi L Baker Matthias Mörgelin Rachel Peat Nathalie Goemans Kathryn N North John F Bateman Shireen R Lamandé

Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). UCMD, a severe disorder characterized by congenital muscle weakness, proximal joint contractures and marked distal joint hyperextensibility, has been considered a recessive condition, and homozygous or compound heterozygous mutations have been defined in CO...

ژورنال: مجله دندانپزشکی 1994
جمالی, فریدون , کاظم زاده, افسر ,

This syndrome is a genetical disorder with symptoms result from deficit in the formation of connective tissue, especially collagen fiber biosynthesis. In these patients, there is hyperelasticity and fragility of the skin and mucosa. Injuries sever bleeding, internal bleeding and hemartrosis may be seen in these patients. Wounds leave scars after healing. There is recurrent dislocation of the jo...

Journal: :Acta Biomaterialia 2021

Osteogenesis imperfecta (OI), also known as "brittle bone disease", is a rare genetic disorder of the skeleton, whose most benign form I corresponds to autosomal dominant mutations in genes encoding type collagen (COLA1, COLA2). Several associated skeletal manifestations are often observed but, surprisingly, while dentin defects reflect disorders, about half OI patients have no obvious oral man...

2014
Derrick C Wan

Ehlers-Danlos syndrome is a heritable connective tissue disorder with an estimated prevalence of one in 10,000 to 25,000 persons [1]. Using clinical phenotype, biochemical and molecular defects, as well as inheritance patterns, a total of 6 subtypes have been described [2]. Although its hallmark findings include severe joint laxity and hyperextensible skin, this condition is known to affect a v...

Journal: :European cells & materials 2003
P J Roughley F Rauch F H Glorieux

Osteogenesis imperfecta is a heritable disorder of bone formation resulting in low bone mass and a propensity to fracture. It exhibits a broad range of clinical severity, ranging from multiple fracturing in utero and perinatal death to normal adult stature and a low fracture incidence. The disorder is currently classified into seven types based on differences in clinical presentation and bone a...

Background and Aim: Diabetes is a chronic and progressive metabolic disorder that leads to more severe cardiac complications. The aim of the present study was to investigate the effects of berberine chloride on the heart tissue of streptozotocin-induced diabetic rats with aerobic training. Methods: 56 male Wistar rats were randomly divided into seven groups (n = 8): control (C), sham (S), Aero...

Journal: :The New England journal of medicine 2010
Aileen M Barnes Erin M Carter Wayne A Cabral MaryAnn Weis Weizhong Chang Elena Makareeva Sergey Leikin Charles N Rotimi David R Eyre Cathleen L Raggio Joan C Marini

Osteogenesis imperfecta is a heritable disorder that causes bone fragility. Mutations in type I collagen result in autosomal dominant osteogenesis imperfecta, whereas mutations in either of two components of the collagen prolyl 3-hydroxylation complex (cartilage-associated protein [CRTAP] and prolyl 3-hydroxylase 1 [P3H1]) cause autosomal recessive osteogenesis imperfecta with rhizomelia (short...

Journal: :Middle East journal of anaesthesiology 2006
Barrett A Johnston Kaitlin E Occhipinti Amir Baluch Alan D Kaye

Ehlers-Danlos syndrome is an inherited disorder that results in dysfunctional collagen bundles. These dysfunctional collagen bundles are most noticeable in tissues rich with collagen fibers--skin, vessels, GI, and ligaments. Until gene therapy advancements can correct the underlying gene mutations causing faulty collagen, the mainstay of treatment is prevention of traumatic injury. The success ...

2016
Blerida Banushi Federico Forneris Anna Straatman-Iwanowska Adam Strange Anne-Marie Lyne Clare Rogerson Jemima J Burden Wendy E Heywood Joanna Hanley Ivan Doykov Kornelis R Straatman Holly Smith Danai Bem Janos Kriston-Vizi Gema Ariceta Maija Risteli Chunguang Wang Rosalyn E Ardill Marcin Zaniew Julita Latka-Grot Simon N Waddington S J Howe Francesco Ferraro Asllan Gjinovci Scott Lawrence Mark Marsh Mark Girolami Laurent Bozec Kevin Mills Paul Gissen

Post-translational modifications are necessary for collagen precursor molecules (procollagens) to acquire final shape and function. However, the mechanism and contribution of collagen modifications that occur outside the endoplasmic reticulum and Golgi are not understood. We discovered that VIPAR, with its partner proteins, regulate sorting of lysyl hydroxylase 3 (LH3, also known as PLOD3) into...

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