نتایج جستجو برای: collagen disorder

تعداد نتایج: 655346  

Journal: :avicenna journal of medical biotechnology 0

collagens are the most abundant proteins in the human body. their main function is to provide structural and mechanical support for the tissues, but they are also involved in a number of other biological functions including cell attachment, migration and differentiation. collagens and gelatins are widely used in pharmaceutical and medical applications. every year, more than 50,000 tons of colla...

2005
Beate Kehrel Leopold Balleisen Renate Kokott RoIf Mesters Werner Stenzinger Kenneth J. Clemetson

Platelets from a patient with a severe lifelong bleeding tendency. which later spontaneously disappeared, lacked intact thrombospondin and glycoprotein (GP) Ia. Before disappearance of the bleeding disorder, results of coagulation studies and platelet aggregation in response to adenosine diphsophate (ADP). arachidonic acid. thrombin. A231 87, epinephrine. and ristocetin were normal. In contrast...

Journal: :Acta dermato-venereologica 2014
Walter Dubiel Ingomar Kiehlmann Rudolf Happle

© 2014 The Authors. doi: 10.2340/00015555-1747 Journal Compilation © 2014 Acta Dermato-Venereologica. ISSN 0001-5555 Connective tissue naevi are circumscribed skin lesions characterised by an increase or structural alteration of either collagen or elastin fibres (1). Collagen naevi occur in a patchy form as a feature of tuberous sclerosis, whereas elastin-rich naevi are noted in Buschke-Ollendo...

2005
Beate Kehrel Leopold Balleisen Renate Kokott RoIf Mesters Werner Stenzinger Kenneth J. Clemetson

Platelets from a patient with a severe lifelong bleeding tendency. which later spontaneously disappeared, lacked intact thrombospondin and glycoprotein (GP) Ia. Before disappearance of the bleeding disorder, results of coagulation studies and platelet aggregation in response to adenosine diphsophate (ADP). arachidonic acid. thrombin. A231 87, epinephrine. and ristocetin were normal. In contrast...

2011
I. Mouna Ben Amor Francis H. Glorieux Frank Rauch

Osteogenesis imperfecta, discussed in Baldridge et al. 2008 is an inherited bone fragility disorder with a wide range of clinical severity that in the majority of cases is caused by mutations in COL1A1 or COL1A2, the genes that encode the two collagen type I alpha chains. Here we describe genotype-phenotype correlations in OI patients who have mutations affecting collagen type I. This paper is ...

1999
A B Pulimood B S Ramakrishna M M Mathan

The case is reported of a young adult man with collagenous gastritis, an extremely rare disorder with only three case reports in the English literature, who subsequently presented with collagenous colitis. Sequential gastric biopsies showed a notable increase in thickness of the subepithelial collagen band. Ultrastructural study of gastric and rectal mucosa showed the characteristic subepitheli...

Journal: :Gut 1999
A B Pulimood B S Ramakrishna M M Mathan

The case is reported of a young adult man with collagenous gastritis, an extremely rare disorder with only three case reports in the English literature, who subsequently presented with collagenous colitis. Sequential gastric biopsies showed a notable increase in thickness of the subepithelial collagen band. Ultrastructural study of gastric and rectal mucosa showed the characteristic subepitheli...

2017
Jérôme Bürgi Béatrice Kunz Laurence Abrami Julie Deuquet Alessandra Piersigilli Sabine Scholl-Bürgi Ekkehart Lausch Sheila Unger Andrea Superti-Furga Paolo Bonaldo F Gisou van der Goot

Loss-of-function mutations in capillary morphogenesis gene 2 (CMG2/ANTXR2), a transmembrane surface protein, cause hyaline fibromatosis syndrome (HFS), a severe genetic disorder that is characterized by large subcutaneous nodules, gingival hypertrophy and severe painful joint contracture. Here we show that CMG2 is an important regulator of collagen VI homoeostasis. CMG2 loss of function promote...

Journal: :The Journal of clinical investigation 1987
M M Kleppel C E Kashtan R J Butkowski A J Fish A F Michael

Alport-type familial nephritis (FN), a genetic disorder, results in progressive renal insufficiency and sensorineural hearing loss. Immunochemical and biochemical analyses of the non-collagenous (NC1) domain of type IV collagen isolated from the glomerular basement membranes (GBM) of three males with this disease demonstrate absence of the normally occurring 28-kilodalton (kD) NC1 monomers, but...

Acid-soluble collagen could be isolated from fish skin using acetic acid. In recent years, much attention has been paid to collagen from marine sources, mainly arising from the fact that there is no risk of contagious diseases. Moreover, by processing the fish, significant amounts of waste materials are produced which can be considered as a substitute for these collagen sources. Thunnus tonggol...

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