نتایج جستجو برای: palatecytogeneticspcrpierre robin syndrome sox9
تعداد نتایج: 630150 فیلتر نتایج به سال:
Mutation analyses of patients with campomelic dysplasia, a bone dysmorphology and XY sex reversal syndrome, indicate that the SRY-related gene SOX9 is involved in both skeletal development and sex determination. To clarify the role SOX9 plays in vertebrate sex determination, we have investigated its expression during gonad development in mouse and chicken embryos. In the mouse, high levels of S...
It has previously been shown that, in the heterozygous state, mutations in the SOX9 gene cause campomelic dysplasia (CD) and the often associated autosomal XY sex reversal. In 12 CD patients, 10 novel mutations and one recurrent mutation were characterized in one SOX9 allele each, and in one case, no mutation was found. Four missense mutations are all located within the high mobility group (HMG...
Street gangs pose serious threats to their members, to their victims, and to communities at large. The behavior problems associated with gangs are many and varied. Suggested causes for the emergence of gangs are complicated, and many of them are interdependent. Interventions planned to rehabilitate individuals and to weaken the power of the gang are numerous. Research shows that few of these in...
The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients; however, approximately 20% of patients with 46,XX testicular DSD are SRY-negative. The SRY-box 9 (SOX9) gene has se...
BACKGROUND SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a testis-inducing transcription factor downstream of SRY, triggering Sertoli cell and testis differentiation. An SRY-dependent testis-specific enhancer for Sox9 has been identified only in mice. A previous study has implicated co...
BACKGROUND Our previous work has provided strong evidence that the transcription factor SOX9 is completely needed for chondrogenic differentiation and cartilage formation acting as a "master switch" in this differentiation. Heterozygous mutations in SOX9 cause campomelic dysplasia, a severe skeletal dysmorphology syndrome in humans characterized by a generalized hypoplasia of endochondral bones...
Introduction: SOX9 is a transcriptional activator which is necessary for chondrogenesis. SOX6 are closely related to DNA-binding proteins that critically enhance its function. Therefore, to carry out the growth plate chondrocyte differentiation program, SOX9 and SOX6 collaborate genomewide. Chondrocyte differentiation is also known to be promoted by glucocorticoids through unknown molecular mec...
Relatively very few number of Pierre Robin syndrome patients are affected by genetic syndromes that involve oral structures or the structures associated with first brachial arch. This case report markedly emphasizes the dental management of children with Pierre Robin syndrome. A 7 years old boy had been referred to the outpatient department with complaint of pain and decayed teeth, description ...
During a 10-year period 55 patients with the Robin anomalad were admitted to the Liverpool Regional Cleft Palate Units. Fourteen (25%) children died. All deaths were within 3 months of birth. Congenital abnormalities other than mandibular retrognathia and cleft palate were present in 14 (26%) children. Peripheral limb defects were particularly common. Thirty children were recalled and reviewed ...
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