نتایج جستجو برای: os trigonum syndrome
تعداد نتایج: 728792 فیلتر نتایج به سال:
Rag enzymes are the main players in V(D)J recombination, the process responsible for rearrangement of TCR and Ig genes. Hypomorphic Rag mutations in humans, which maintain partial V(D)J activity, cause a peculiar SCID associated with autoimmune-like manifestations, Omenn syndrome (OS). Although a deficient ability to sustain thymopoiesis and to produce a diverse T and B cell repertoire explains...
b a ckground: to compare the oxidative stress (os) factors in obese and non- obese subjects with type 2 diabetes (t2d) and to evaluate the interaction between the apolipoprotein a-ii (apo a-ii) - 265t > c polymorphism and body mass index (bmi) on os factors. m ethods : in this comparative cross-sectional study, 21 diabetes centers in tehran, iran were studied. 180 patients with t2d were divide...
Ohtahara syndrome (OS) is a rare epileptic encephalopathy that is characterized by an abnormal electroencephalogram (EEG) and intractable seizures in the neonatal and early infantile period. The patient of this reported case was delivered normally at 39 weeks of gestation without any complication. One week after birth, seizures that were refractory to anticonvulsants started with repetitive clu...
UNLABELLED Clinical presentation and histopathology of autoimmune hepatitis (AIH) and primary sclerosing cholangitis (PSC) overlap syndrome (OS) are similar, but their management is different. We conducted a pediatric retrospective cross-sectional study of 34 patients with AIH and PSC. AIH had female predominance (74%) and was lower in PSC (45%). There was a trend toward higher frequency of bla...
Opitz syndrome (OS) is a genetic neurological disorder. The gene responsible for the X-linked form of OS, Midline-1 (MID1), encodes an E3 ubiquitin ligase that regulates the degradation of the catalytic subunit of protein phosphatase 2A (PP2Ac). However, how Mid1 functions during neural development is largely unknown. In this study, we provide data from in vitro and in vivo experiments suggesti...
In vitro modeling of human disease has recently become feasible with induced pluripotent stem cell (iPSC) technology. Here, we established patient-derived iPSCs from a Li-Fraumeni syndrome (LFS) family and investigated the role of mutant p53 in the development of osteosarcoma (OS). LFS iPSC-derived osteoblasts (OBs) recapitulated OS features including defective osteoblastic differentiation as w...
osteosarcoma (os) is the eighth common cancer of childhood and its incidence is 4 cases in one million in children younger than 14. facial os incidence is estimated between 8 and 10% of os cases. the main etiology of os is unknown, but various predisposing factors are proposed such as radiation, radiotherapy, some benign bone diseases like paget’s disease or fibrous dysplasia. there is a 5-year...
چکیده ندارد.
Loss-of-function mutations in the MID1 gene cause a rare monogenic disorder, Opitz BBB/G syndrome (OS), which is characterized by malformations of the ventral midline. The MID1 gene encodes the MID1 protein, which assembles a large microtubule-associated protein complex. Intensive research over the past several years has shed light on the function of the MID1 protein as a ubiquitin ligase and r...
Nowadays, different materials have been used for regeneration of interosseous defects and Neo-Os is one of them. The objective of this study was to evaluate histologically the influence of Neo-Os® particles on bone regeneration using rabbit caivarias defects with and without protection of Gore-Tex® barrier membrane. A cutaneous- periosteal incision and flap was made on the forehead of 32 rabbit...
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