Swedish
Albanian
Arabic
Armenian
Azerbaijani
Belarusian
Bengali
Bosnian
Catalan
Czech
Danish
Deutsch
Dutch
English
Estonian
Finnish
Français
Greek
Haitian Creole
Hebrew
Hindi
Hungarian
Icelandic
Indonesian
Irish
Italian
Japanese
Korean
Latvian
Lithuanian
Macedonian
Mongolian
Norwegian
Persian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Slovenian
Spanish
Swahili
Swedish
Turkish
Ukrainian
Vietnamese
Български
中文(简体)
中文(繁體)
osteochondrodysplasias/arginine
Länken sparas på Urklipp
Sida 1 från 33 resultat
Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita.
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
A child with typical spondyloepiphyseal dysplasia congenita had a recurrent, heterozygous substitution of arginine 789 by cysteine in the triple helical domain of alpha 1 (II) chains of type II collagen. The amino substitution was due to the transition of cytosine 2913 to thymine in exon 41 of the
Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
A child with spondyloepiphyseal dysplasia congenita was shown to be heterozygous for a mutation of the COL2A1 gene that encodes the alpha 1 (II) chain of type II collagen. The alpha 1 (II) chains extracted from cartilage contained disulfide-bonded dimeric and trimeric alpha 1 (II) chains.
Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings.
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
OBJECTIVE
To characterize a kindred of Chiloe Islanders with spondyloepiphyseal dysplasia tarda (SEDT), brachydactyly, precocious osteoarthritis (OA), and intraarticular calcification.
METHODS
Sixteen family members underwent a complete physical examination, anthropometric measurements, radiographic
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
BACKGROUND
The majority of COL2A1 missense mutations are substitutions of obligatory glycine residues in the triple helical domain. Only a few non-glycine missense mutations have been reported and among these, the arginine to cysteine substitutions predominate.
OBJECTIVE
To investigate in more
Impact of Arginine to Cysteine Mutations in Collagen II on Protein Secretion and Cell Survival.
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
Inherited point mutations in collagen II in humans affecting mainly cartilage are broadly classified as chondrodysplasias. Most mutations occur in the glycine (Gly) of the Gly-X-Y repeats leading to destabilization of the triple helix. Arginine to cysteine substitutions that occur at either the X or
[A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree].
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
OBJECTIVE
To identify the genetic defect in a four-generation pedigree with X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT) from Southwest China.
METHODS
Linkage analysis with one panel of fluorescently labeled microsatellite markers on chromosome X and mutation screening of SEDL gene
A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
A missense mutation in the mouse Col2a1 gene has been discovered, resulting in a mouse phenotype with similarities to human spondyloepiphyseal dysplasia (SED) congenita. In addition, SED patients have been identified with a similar molecular mutation in human COL2A1. This mouse model offers a useful
An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia.
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
Multiple epiphyseal dysplasia (MED) can result from mutations in matrilin-3, a structural protein of the cartilage extracellular matrix. We have previously shown that in a mouse model of MED the tibia growth plates were normal at birth but developed a progressive dysplasia characterised by the
Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia--are there "hot spots" on COL2A1?
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
OBJECTIVE
To define the genetic basis of a family with an autosomal, dominantly inherited form of spondyloepiphyseal dysplasia (SED) associated with tall stature.
METHODS
A 6 generation family with early onset osteoarthritis (OA) associated with mild SED was studied. 14 individuals were examined
Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis.
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
OBJECTIVE
To define the clinical, pathological and molecular genetic characteristics of a family with mild spondyloepiphyseal dysplasia (SED) and precocious osteoarthritis.
METHODS
The proband was a 46-year-old man with precocious generalized OA, tall stature, mild chondrodysplasia and moderate
A human COL2A1 gene with an Arg519Cys mutation causes osteochondrodysplasia in transgenic mice.
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
OBJECTIVE
An arginine-to-cysteine substitution at position 519 of the COL2A1 gene causes early generalized osteoarthritis with mild chondrodysplasia in humans. In this study, a human COL2A1 gene with the same mutation was introduced into a murine genome having 1 or no alleles of the murine Col2a1
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
Identifying mutations that cause specific osteochondrodysplasias will provide novel insights into the function of genes that are essential for skeletal morphogenesis. We report here that an autosomal dominant form of Stickler syndrome, characterized by mild spondyloepiphyseal dysplasia,
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
Heterozygous COL2A1 variants cause a wide spectrum of skeletal dysplasia termed type II collagenopathies. We assessed the impact of this gene in our French series. A decision tree was applied to select 136 probands (71 Stickler cases, 21 Spondyloepiphyseal dysplasia congenita cases, 11 Kniest
Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders.
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
Arginine519-cysteine mutation in the type II procollagen gene (COL2A1) is known to be associated with mild spondyloepiphyseal dysplasia (SED) and precocious generalized osteoarthritis (OA). Five families have now been identified with this mutation. To determine whether a common founder was
Improvement of molecular-genetic diagnostics of the most common skeletal dysplasias.
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
achondroplasia (ACH) and hypochondroplasia (HCH) into the routine practice.
BACKGROUND
Both disorders are usually caused by de novo gain-of-function type mutations in FGFR3 gene encoding the fibroblast growth factor receptor 3, which plays an important role in the metabolism of connective tissues.
Den mest kompletta databasen med medicinska örter som stöds av vetenskapen
- Fungerar på 55 språk
- Växtbaserade botemedel som stöds av vetenskap
- Örter igenkänning av bild
- Interaktiv GPS-karta - märka örter på plats (kommer snart)
- Läs vetenskapliga publikationer relaterade till din sökning
- Sök efter medicinska örter efter deras effekter
- Organisera dina intressen och håll dig uppdaterad med nyheterna, kliniska prövningar och patent
Skriv ett symptom eller en sjukdom och läs om örter som kan hjälpa, skriv en ört och se sjukdomar och symtom den används mot.
* All information baseras på publicerad vetenskaplig forskning
