epidermolysis bullosa dystrophica/arginină

Linkul este salvat în clipboard

ArticoleStudii cliniceBrevete

Alegeți tipul de sortare

Pagină 1 din 21 rezultate

Altered expression of L-arginine metabolism pathway genes in chronic wounds in recessive dystrophic epidermolysis bullosa.

Numai utilizatorii înregistrați pot traduce articole

Individuals with the severe, mutilating Hallopeau-Siemens form of recessive dystrophic epidermolysis bullosa (HS-RDEB) have trauma-induced blisters and skin erosions which often progress to wounds that are slow to heal. These chronic wounds cause considerable morbidity and there is an increased risk

A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.

Numai utilizatorii înregistrați pot traduce articole

We recently demonstrated strong genetic linkage between the type VII collagen gene (COL7A1) and both the dominant and recessive forms of dystrophic epidermolysis bullosa. In this study, we searched for mutations in dominant dystrophic epidermolysis bullosa using polymerase chain reaction

A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa.

Numai utilizatorii înregistrați pot traduce articole

Epidermolysis bullosa pruriginosa is a recently recognized variant of dystrophic epidermolysis bullosa (DEB) characterized by severe pruritus and scarring, mainly involving the extensors of the extremities. In this study, we searched for mutations in the type VII collagen gene (COL7A1) using

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.

Numai utilizatorii înregistrați pot traduce articole

BACKGROUND The inversa type of recessive dystrophic epidermolysis bullosa (RDEB-I) is a rare variant of dystrophic epidermolysis bullosa, characterised by blistering in the body flexures, trunk, and mucosa. The cause of this specific distribution is unknown. So far, 20 COL7A1 genotypes have been

Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary.

Numai utilizatorii înregistrați pot traduce articole

Epidermolysis bullosa (EB) represents a group of genodermatoses characterized by fragility and easy blistering of the skin. In the dystrophic forms of EB (DEB), blisters occur below the basement membrane, at the level of the anchoring fibrils. In the dominantly inherited forms (DDEB), the

Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.

Numai utilizatorii înregistrați pot traduce articole

The generalized mutilating form of recessive dystrophic epidermolysis bullosa (i.e., the Hallopeau-Siemens type; HS-RDEB) is a life-threatening disease characterized by extreme mucocutaneous fragility associated with absent or markedly altered anchoring fibrils (AF). Recently, we reported linkage

Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.

Numai utilizatorii înregistrați pot traduce articole

We have previously demonstrated genetic linkage between the type VII collagen gene (COL7A1) and the dominant (DDEB) and recessive (RDEB) forms of dystrophic epidermolysis bullosa (DEB) and have subsequently identified pathogenetic mutations in several families. Mutations in DDEB identified thus far

First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling.

Numai utilizatorii înregistrați pot traduce articole

A 28-year-old woman, who previously had had a child affected with the hereditary blistering skin disorder, recessive dystrophic epidermolysis bullosa, presented at 7 weeks' gestation for prenatal diagnosis. Genomic DNA, obtained from her, her husband (who is a first cousin), their unaffected child,

Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.

Numai utilizatorii înregistrați pot traduce articole

Type VII collagen is the major component of anchoring fibrils, adhesion structures of stratified epithelia that span the basement membrane region and papillary dermis. Mutations in the gene COL7A1 encoding type VII collagen cause dystrophic epidermolysis bullosa, a clinically heterogeneous autosomal

A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.

Numai utilizatorii înregistrați pot traduce articole

Dystrophic epidermolysis bullosa (DEB) is a hereditary mechanobullous disorder characterized by fragility of the skin and mucous membrane due to abnormalities of anchoring fibrils. Both dominant and recessive DEB have been shown to be caused by mutations in COL7A1, the gene encoding type VII

Dystrophic epidermolysis bullosa: two case reports.

Numai utilizatorii înregistrați pot traduce articole

We identified the mutations in two patients with different phenotypes of dystrophic epidermolysis bullosa (DEB). We performed molecular diagnosis to a patient aged 45 years who showed the typical severe generalized autosomal recessive DEB signs when admitted to the hospital. The other patient is a

A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa.

Numai utilizatorii înregistrați pot traduce articole

Dystrophic epidermolysis bullosa (DEB) is caused by mutations in the type VII collagen gene (COL7A1). Nearly all cases of dominant DEB are caused by glycine substitution mutations occurring within the triple helical region of type VII collagen, and most of the mutations are unique to individual

Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study.

Numai utilizatorii înregistrați pot traduce articole

Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study Squamous cell carcinoma (SCC) is a frequent complication in the severe, recessively inherited forms of dystrophic epidermolysis bullosa (RDEB), however, only rarely reported in dominant DEB.

A new glycine substitution mutation in the COL7A1 gene in a Chinese family with dominant dystrophic epidermolysis bullosa.

Numai utilizatorii înregistrați pot traduce articole

Dystrophic epidermolysis bullosa (DEB) is caused by mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils. The characteristic genetic lesion in dominant DEB (DDEB) is a glycine substitution in the collagenous domain of the protein. In this study, we

Late-onset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII.

Numai utilizatorii înregistrați pot traduce articole

Dystrophic epidermolysis bullosa (DEB) is a rare hereditary skin disorder caused by mutations in COL7A1, encoding collagen type VII.1 Clinical manifestations of COL7A1 mutations range from generalized skin blistering to mild localized blistering or nail dystrophy.2 The investigation of the molecular

Anterior
1
2
Următor →

Alăturați-vă paginii
noastre de facebook

Herbal & Natural Medicine

Cea mai completă bază de date cu plante medicinale susținută de știință

Funcționează în 55 de limbi
Cure pe bază de plante susținute de știință
Recunoașterea ierburilor după imagine
Harta GPS interactivă - etichetați ierburile în locație (în curând)
Citiți publicațiile științifice legate de căutarea dvs.
Căutați plante medicinale după efectele lor
Organizați-vă interesele și rămâneți la curent cu noutățile de cercetare, studiile clinice și brevetele

Tastați un simptom sau o boală și citiți despre plante care ar putea ajuta, tastați o plantă și vedeți boli și simptome împotriva cărora este folosit.
* Toate informațiile se bazează pe cercetări științifice publicate