نتایج جستجو برای: kal1 gene
تعداد نتایج: 1141383 فیلتر نتایج به سال:
background:it has been hypothesized that genetic factors other than histocompatibility disparity may play a role in predisposition to developing chronic myelogenous leukemia (cml). in this regard, th1 and th2 cytokines and their gene polymorphism seems to be important. overall expression and secretion of cytokines is dependent, at least in part, on genetic polymorphism (nucleotide variations) w...
background: nowadays, oocytes and embryos vitrification has become a routine technique. based on clinical judgment, re-vitrification maybe required. but little is known about re-vitrification impact on genes expression. objective: the impact of re-vitrification on apoptotic and implanting genes, bax, bcl-2 and erbb4, at compaction stage embryos were evaluated in this study. materials and method...
ژن درمانی با استفاده از روش هدف گیری ژنی (gene targeting) یکی از بهترین روشهای درمان نقائص ژنتیکی نظیر بتا تالاسمی می باشد. بیماری بتا تالاسمی در اثر کاهش یا فقدان سنتز زنجیره بتا گلوبین به وجود می آید. یکی از روشهای درمان موثر برای این بیماری ژن درمانی توسط حامل های لنتی ویروسی می باشد. ظرفیت حامل های لنتی ویروس حدود 10 کیلو باز است. هدف از این تحقیق طراحی و ساخت حامل لنتی ویروس های نوترکیب فا...
CONTEXT Idiopathic hypogonadotropic hypogonadism (IHH) with normal smell (normosmic IHH) or anosmia (Kallmann syndrome) is associated with defects in the production or action of GnRH. Accordingly, most IHH patients respond to physiological pulsatile GnRH replacement by normalizing serum LH, FSH, and testosterone (T) levels and achieving gametogenesis; some patients, however, show atypical respo...
Congenital hypogonadotropic hypogonadism (CHH) and its anosmia-associated form (Kallmann syndrome [KS]) are genetically heterogeneous. Among the >15 genes implicated in these conditions, mutations in FGF8 and FGFR1 account for ~12% of cases; notably, KAL1 and HS6ST1 are also involved in FGFR1 signaling and can be mutated in CHH. We therefore hypothesized that mutations in genes encoding a broad...
CONTEXT TAC3/TACR3 mutations have been reported in normosmic congenital hypogonadotropic hypogonadism (nCHH) (OMIM #146110). In the absence of animal models, studies of human neuroendocrine phenotypes associated with neurokinin B and NK3R receptor dysfunction can help to decipher the pathophysiology of this signaling pathway. OBJECTIVE To evaluate the prevalence of TAC3/TACR3 mutations, chara...
The neuroendocrine control of reproduction in mammals is governed by a neural hypothalamic network of nearly 1500 gonadotropin-releasing hormone (GnRH) secreting neurons that modulate the activity of the reproductive axis across life. Congenital hypogonadotropic hypogonadism (HH) is a clinical syndrome that is characterized by partial or complete pubertal failure. HH may result from inadequate ...
introduction: hyperprolactinemia is a common serious side effect of antipsychotic medications that are currently used in the treatment of patients with schizophrenia. pharmacogenetic approaches offer the possibility of identifying patient-specific biomarkers for predicting the risk of this side effect. we investigated a possible relationship between variants (snps) in genes for cytochrome 2d6 (...
background: niche cells, regulating spermatogonial stem cells (sscs) fate are believed to have a reciprocal communication with sscs. the present study was conducted to evaluate the effect of ssc elimination on the gene expression of glial cell line-derived neurotrophic factor (gdnf), fibroblast growth factor 2 (fgf2) and kit ligand (kitlg), which are the main growth factors regulating sscs deve...
background: one of the most important producers of high quality industrial enzymes is the gram-positive bacterium, bacillus subtilis (b. subtilis). one major limitation that hinders the wide application of b. subtilis is the secretion of high levels of extracellular proteases which degrade the secreted foreign proteins. in this study, homologus recombination technique was used to knock out its ...
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