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Is Hirschsprung disease a mendelian or a multifactorial disorder?
Coding sequence mutations in RET, GDNF, EDNRB, EDN3, and SOX10 are involved in the development of Hirschsprung disease. The majority of these genes was shown to be related to Mendelian syndromic forms of Hirschsprung's disease, whereas the non-Mendelian inheritance of sporadic non-syndromic Hirschsprung disease proved ...
Hirschsprung disease (HSCR), or congenital intestinal aganglionosis, is a common hereditary disorder causing intestinal obstruction, thereby showing considerable phenotypic variation in conjunction with complex inheritance. Moreover, phenotypic assessment of the disease has been complicated since a subset of the ob...
List signaling molecules (ligands) that interact with the receptor EGFR?
The 7 known EGFR ligands are: epidermal growth factor (EGF), betacellulin (BTC), epiregulin (EPR), heparin-binding EGF (HB-EGF), transforming growth factor-α [TGF-α], amphiregulin (AREG) and epigen (EPG).
Autocrine, paracrine, and juxtacrine are recognized modes of action for mammalian EGFR ligands including EGF, TGF-α (TGFα), amphiregulin (AREG), heparin-binding EGF-like growth factor (HB-EGF), betacellulin, epiregulin, and epigen. We identify a new mode of EGFR ligand signaling via exosomes. Human breast and color...
Is the protein Papilin secreted?
Yes, papilin is a secreted protein
A sulfated glycoprotein was isolated from the culture media of Drosophila Kc cells and named papilin. Affinity purified antibodies against this protein localized it primarily to the basement membranes of embryos. The antibodies cross-reacted with another material which was not sulfated and appeared to be the core p...
Are long non coding RNAs spliced?
Long non coding RNAs appear to be spliced through the same pathway as the mRNAs
Thousands of long noncoding RNAs (lncRNAs) have been found in vertebrate animals, a few of which have known biological roles. To better understand the genomics and features of lncRNAs in invertebrates, we used available RNA-seq, poly(A)-site, and ribosome-mapping data to identify lncRNAs of Caenorhabditis elegans. ...
Is RANKL secreted from the cells?
Receptor activator of nuclear factor κB ligand (RANKL) is a cytokine predominantly secreted by osteoblasts.
Bone destruction is a common feature of inflammatory arthritis and is mediated by osteoclasts, the only specialized cells to carry out bone resorption. Aberrant expression of receptor activator of nuclear factor kappa β ligand (RANKL), an inducer of osteoclast differentiation has been linked with bone pathology and...
Does metformin interfere thyroxine absorption?
No. There are not reported data indicating that metformin reduce with thyroxine absorption.
Which miRNAs could be used as potential biomarkers for epithelial ovarian cancer?
miR-200a, miR-100, miR-141, miR-200b, miR-200c, miR-203, miR-510, miR-509-5p, miR-132, miR-26a, let-7b, miR-145, miR-182, miR-152, miR-148a, let-7a, let-7i, miR-21, miR-92 and miR-93 could be used as potential biomarkers for epithelial ovarian cancer.
OBJECTIVE: To determine the utility of serum miRNAs as biomarkers for epithelial ovarian cancer. METHODS: Twenty-eight patients with histologically confirmed epithelial ovarian cancer were identified from a tissue and serum bank. Serum was collected prior to definitive therapy. Fifteen unmatched, healthy controls we...
Which acetylcholinesterase inhibitors are used for treatment of myasthenia gravis?
Pyridostigmine and neostygmine are acetylcholinesterase inhibitors that are used as first-line therapy for symptomatic treatment of myasthenia gravis. Pyridostigmine is the most widely used acetylcholinesterase inhibitor. Extended release pyridotsygmine and novel acetylcholinesterase inhibitors inhibitors with oral ant...
Treatment for myasthenia gravis should be individualized to each patient based on the clinical characteristics of myasthenia including the distribution, duration, and severity of weakness and resulting functional impairment; the risks for treatment complications related to age, gender, and medical comorbidities; an...
Has Denosumab (Prolia) been approved by FDA?
Yes, Denosumab was approved by the FDA in 2010.
Osteoporosis in men is finally receiving some attention; it has been realized that men are more likely to die after hip fracture. Methods for screening men for osteoporosis include dual energy x-ray absorptiometry and use of fracture risk calculators such as FRAX (World Health Organization) and the Garvan nomogram....
List the human genes encoding for the dishevelled proteins?
DVL-1 DVL-2 DVL-3
The dishevelled gene of Drosophila is required to establish coherent arrays of polarized cells and is also required to establish segments in the embryo. Here, we show that loss of dishevelled function in clones, in double heterozygotes with wingless mutants and in flies bearing a weak dishevelled transgene leads to ...
Name synonym of Acrokeratosis paraneoplastica.
Acrokeratosis paraneoplastic (Bazex syndrome) is a rare, but distinctive paraneoplastic dermatosis characterized by erythematosquamous lesions located at the acral sites and is most commonly associated with carcinomas of the upper aerodigestive tract.
Acrokeratosis paraneoplastica of Bazex is a rare cutaneous syndrome associated with maligt neoplasms of the pulmonary and upper gastrointestinal tract, or cervical metastatic adenopathy, usually seen in middle-aged white men. We present a unique case of Bazex syndrome in that the patient was young, black, and a wom...
Which are the classes of anti-arrhythmic drugs according to Vaughan-Williams classification?
Antiarrhythmic drugs can be divided into four Vaughan Williams classes (I-IV). Class I antiarrhythmic agents have as a common action, blockade of the sodium channels. Class II agents are antisympathetic drugs, particularly the beta-adrenoceptor blockers. Class-III antiarrhythmics have as a common action the potassium-c...
The present paper reviews classification and mode of action of agents that suppress extrasystoles and tachyarrhythmias. These are classified according to their electrophysiological effects observed in isolated cardiac tissues in vitro (Vaughan Williams, 1989). Fast sodium channel blockers (class I) which reduce the...
Which are the different isoforms of the mammalian Notch receptor?
Notch signaling is an evolutionarily conserved mechanism, used to regulate cell fate decisions. Four Notch receptors have been identified in man: Notch-1, Notch-2, Notch-3 and Notch-4.
Notch signaling is an evolutionarily conserved mechanism, used to regulate cell fate decisions. Four Notch receptors have been identified in man (Notch-1 to -4). In this study, semiquantitative reverse transcription polymerase chain reaction (RT-PCR) and immunohistochemistry were used to examine the expression patt...
Which are the major characteristics of cellular senescence?
The defining characteristics of cellular senescence are altered morphology, arrested cell-cycle progression, development of aberrant gene expression with proinflammatory behavior, and telomere shortening.
Although reactive oxygen species have been proposed to play a major role in the aging process, the exact molecular mechanisms remain elusive. In this study we investigate the effects of a perturbation in the ratio of Cu/Zn-superoxide dismutase activity (Sod1 dismutases .O2-to H2O2) to glutathione peroxidase activit...
Orteronel was developed for treatment of which cancer?
Orteronel was developed for treatment of castration-resistant prostate cancer.
A novel naphthylmethylimidazole derivative 1 and its related compounds were identified as 17,20-lyase inhibitors. Based on the structure-activity relationship around the naphthalene scaffold and the results of a docking study of 1a in the homology model of 17,20-lyase, the 6,7-dihydro-5H-pyrrolo[1,2-c]imidazole der...
Is the monoclonal antibody Trastuzumab (Herceptin) of potential use in the treatment of prostate cancer?
Although is still controversial, Trastuzumab (Herceptin) can be of potential use in the treatment of prostate cancer overexpressing HER2, either alone or in combination with other drugs.
Antibody to the Her-2/neu gene product has been shown to inhibit the growth of breast cancer cells overexpressing Her-2/neu and to have clinical utility in treating breast cancer. We studied a recombit, humanized anti-Her-2/neu antibody (Herceptin) in preclinical models of human prostate cancer. The androgen-depend...
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