epidermolysis bullosa simplex/arjinin

Bağlantı panoya kaydedilir

NesneKlinik denemelerPatentler

Sıralama türünü seçin

10 Sonuçlar

Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

Epidermolysis bullosa simplex (EBS) is a blistering disorder affecting the basal layer of the epidermis usually inherited in an autosomal dominant fashion. Most cases are caused by mutations in the genes encoding keratin 5 (K5) and keratin 14 (K14) and are characterized by cytolysis within the basal

Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

The clinical features of the Dowling-Meara variant of epidermolysis bullosa simplex (EBS-DM) can, in an infant, be indistinguishable from other severe forms of epidermolysis bullosa (EB). Two unrelated infants with no family history of skin disease are described who, within hours of birth, developed

Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

Keratin intermediate filaments are expressed in specific type I/type II pairs in the stage of differentiation of keratinocytes. The mutations in the keratin genes expressed in the epidermis are etiologically responsible for several epidermal genetic skin diseases, such as epidermolysis bullosa

Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

Keratins are the major structural proteins of the epidermis. Recently, it was discovered that point mutations in the epidermal keratins can lead to the blistering skin diseases epidermolysis bullosa simplex (EBS) and epidermolytic hyperkeratosis (EH), involving epidermal cell fragility and rupture

Characterization of structural changes in vimentin bearing an epidermolysis bullosa simplex-like mutation using site-directed spin labeling and electron paramagnetic resonance.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

Mutations in intermediate filament protein genes are responsible for a number of inherited genetic diseases including skin blistering diseases, corneal opacities, and neurological degenerations. Mutation of the arginine (Arg) residue of the highly conserved LNDR motif has been shown to be causative

A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

We have identified a single base change in exon 4 of the type I keratin gene which results in the replacement of a methionine for an arginine residue at codon 272 in an Irish family displaying an autosomal dominant simplex (Koebner) form of epidermolysis bullosa (EB). This family had previously

Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

Epidermolytic palmoplantar keratoderma is an autosomal dominant skin disorder characterized by hyperkeratosis of the palms and soles. Ultrastructurally the disease exhibits abnormal keratin filament networks and tonofilament clumping like that found in the keratin disorders of epidermolysis bullosa

A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

Epidermolytic hyperkeratosis (EHK), (bullous congenital ichthyosiform erythroderma), is an autosomal dominant human skin disorder. Recently, we and others have described mutations in keratins 1 and 10 (K1 and K10) in patients with this disease. Structure-function models predict that these mutations

Mutations in the 1A rod domain segment of the keratin 9 gene in epidermolytic palmoplantar keratoderma.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

Palmoplantar keratodermas (PPK) constitute a heterogeneous group of diseases marked by the thickening of palms and soles of affected individuals. They are divided into autosomal dominant and autosomal recessive groups by the mode of transmission. The autosomal dominantly transmitted group is further

The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

Epidermolytic hyperkeratosis (EH) is a skin disease characterized by keratin filament clumping and degeneration in terminally differentiating epidermal cells. We have discovered that the genetic basis for EH resides in mutations in differentiation-specific keratins. Two of six distinct incidences of

Facebook sayfamıza katılın

Herbal & Natural Medicine

Bilim tarafından desteklenen en eksiksiz şifalı otlar veritabanı

55 dilde çalışır
Bilim destekli bitkisel kürler
Görüntüye göre bitki tanıma
Etkileşimli GPS haritası - bölgedeki bitkileri etiketleyin (yakında)
Aramanızla ilgili bilimsel yayınları okuyun
Şifalı bitkileri etkilerine göre arayın
İlgi alanlarınızı düzenleyin ve haber araştırmaları, klinik denemeler ve patentlerle güncel kalın

Bir belirti veya hastalık yazın ve yardımcı olabilecek bitkiler hakkında bilgi edinin, bir bitki yazın ve karşı kullanıldığı hastalıkları ve semptomları görün.
* Tüm bilgiler yayınlanmış bilimsel araştırmalara dayanmaktadır