ectodermal dysplasia/tyrosine

Link salvestatakse lõikelauale

ArtiklidKliinilistes uuringutesPatendid

Valige sortimise tüüp

6 tulemused

A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

Hypohidrotic ectodermal dysplasia (EDA), or Christ-Siemens-Touraine syndrome, is clinically characterized by hypohidrosis, hypoodontia and hypotrichosis. The X-linked form of the disease has been mapped to Xq12-q13.1, and a gene from this region has recently been cloned. This gene encodes a

A point mutation in NEMO associated with anhidrotic ectodermal dysplasia with immunodeficiency pathology results in destabilization of the oligomer and reduces lipopolysaccharide- and tumor necrosis factor-mediated NF-kappa B activation.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

The NEMO (NF-kappaB essential modulator) protein plays a crucial role in the canonical NF-kappaB pathway as the regulatory component of the IKK (IkappaB kinase) complex. The human disease anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) has been recently linked to mutations in NEMO. We

Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

Prepubertal periodontitis (PPP) is a rare and rapidly progressive disease of young children that results in destruction of the periodontal support of the primary dentition. The condition may occur as part of a recognised syndrome or may occur as an isolated finding. Both autosomal dominant and

PTPRF is disrupted in a patient with syndromic amastia.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

BACKGROUND The presence of mammary glands distinguishes mammals from other organisms. Despite significant advances in defining the signaling pathways responsible for mammary gland development in mice, our understanding of human mammary gland development remains rudimentary. Here, we identified a

Increased neurotrophic factor levels in ventral mesencephalic cultures do not explain the protective effect of osteopontin and the synthetic 15-mer RGD domain against MPP+ toxicity.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

The synthetic 15-mer arginine-glycine-aspartic acid (RGD) domain of osteopontin (OPN) is protective in vitro and in vivo against dopaminergic cell death and this protective effect may be mediated through interaction with integrin receptors to regulate neurotrophic factor levels. We now examine this

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

The hyper immunoglobulin M (IgM) syndrome (HIGM), characterized by recurrent infections, low serum IgG and IgA, normal or elevated IgM, and defective class switch recombination and somatic hypermutation, is a heterogenous disorder with at least 5 distinct molecular defects, including mutations of

Liitu meie
facebooki lehega

Herbal & Natural Medicine

Kõige täiuslikum ravimtaimede andmebaas, mida toetab teadus

Töötab 55 keeles
Taimsed ravimid, mida toetab teadus
Maitsetaimede äratundmine pildi järgi
Interaktiivne GPS-kaart - märgistage ürdid asukohas (varsti)
Lugege oma otsinguga seotud teaduspublikatsioone
Otsige ravimtaimi nende mõju järgi
Korraldage oma huvisid ja hoidke end kursis uudisteuuringute, kliiniliste uuringute ja patentidega

Sisestage sümptom või haigus ja lugege ravimtaimede kohta, mis võivad aidata, tippige ürdi ja vaadake haigusi ja sümptomeid, mille vastu seda kasutatakse.
* Kogu teave põhineb avaldatud teaduslikel uuringutel