[PDF] Top 20 Mutations in the melanocortin-1 receptor (MC1R) gene have no influence on the distinct patterns of melanic plumage found in the manakins of the genus Antilophia (Aves: Pipridae)
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Mutations in the melanocortin-1 receptor (MC1R) gene have no influence on the distinct patterns of melanic plumage found in the manakins of the genus Antilophia (Aves: Pipridae)
... The melanocortin-1 receptor gene is the most widely-used marker for the investigation of the genetic determination of melanic plumage ...non-synonymous mutations of ... See full document
7
Comment on: Valette et al. Melanocortin-4 receptor mutations and polymorphisms do not affect weight loss after bariatric surgery. PLOS ONE 2012; 7(11):E48221.
... that the analysis of a ‘large group of MC4R mutation carriers’ was one of the strengths of their ...On the contrary, the small number of subjects in the different MC4R genotype ... See full document
2
Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations.
... concentrations in patients with biallelic TAC3/TACR3 mutations showed very weak and apulsatile LH secretion, contrasting with preserved FSH ...found in other nCHH patients with biallelic TAC3/TACR3 ... See full document
11
TOX3 mutations in breast cancer.
... haplotypes, in which rs3803662 was associated with breast cancer risk ...was the second strongest association identified in this ...spanning the 5 9 regulatory sequences of the gene ... See full document
5
Sequence variation in the melanocortin-1 receptor(
... However, the genetic basis of pigmentation is poorly known in this ...group. In this study we analyzed the coding region of the melanocortin-1-receptor (MC1R) gene, ... See full document
7
MEN1 gene in endocrine and nonendocrine sporadic tumors
... genes. The nonhereditary forms of the tumors pres- ent in these familial syndromes frequently present the same tumor suppressor gene in- activation, usually associated with some more ... See full document
5
C. elegans rrf-1 mutations maintain RNAi efficiency in the soma in addition to the germline.
... RNAi in rrf-1 mutants, we next investigated the hypodermis, a tissue comprised of multiple cell types that establish the basic body form and which secretes the cuticle of the ... See full document
12
FireProt: Energy- and Evolution-Based Computational Design of Thermostable Multiple-Point Mutants.
... between the Gibbs free energies of folding for mutant proteins and the corresponding wild type ...increase the reliability of the analysis, only records with absolute ΔΔG values of ... See full document
20
The role of carcinine in signaling at the Drosophila photoreceptor synapse.
... neurons in the optic lobe [28], and it is possible that inebriated serves as a histamine ...from the tobacco hornworm Manduca sexta, which has significant homology to the inebriated protein ... See full document
10
The impact of point mutations in the human androgen receptor: classification of mutations on the basis of transcriptional activity.
... Androgen receptor mediated signaling drives prostate cancer cell growth and ...survival. Mutations within the receptor occur infrequently in prostate cancer prior to hormonal therapy ... See full document
13
A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding.
... retained in the ER ...enzyme 1 [23], also improved cell surface expression of wt-MC4R and of the obesity-associated MC4R I316S variant ...[20]. The effects of PBA and UBE1-41 were ... See full document
7
Epidermal growth factor receptor (EGFR) mutations in lung cancer: preclinical and clinical data
... to the second-generation EGFR TKI afatinib. The latter may be explained by the inability of this irreversible TKI to generate an effective clinical therapeutical window that can deter T790M and not ... See full document
11
Efeito in vitro do deidroepiandrosterona (DHEA) sobre a via IRS/PI3-K/Akt e secreção...
... resulted in reduction of abdominal fat and protection against insulin resistance from experimental animals and ...as: 1) enhanced insulin secretion from mice and aging rat pancreatic islets; 2) apoptosis ... See full document
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Clinics vol.67 número5
... factor receptor (EGFR) is critically involved in NSCLC pathogenesis and has recently emerged as an important target for molecular ...EGFR mutations are involved in the pathogenesis of a ... See full document
6
ABSTRACT BACKGROUND AND OBJECTIVES : Inflammatory dis-
... by the IL-1 receptors, co-receptors, antagonists, and endogenous ...almost in- distinguishable pro-inflammatory effect), and the IL-1 receptor antagonist (IL-1RA) that inhibits ... See full document
6
Quantitative receptor radioautography in the study of receptor-receptor interactions in the nucleus tractus solitarii
... (NTS) in the medulla oblongata has a crucial role in cen- tral cardiovascular ...via the vagus and glossopharyngeal nerves ...that the NTS, particularly its medial portion, is abso- ... See full document
6
TREM-1 deficiency can attenuate disease severity without affecting pathogen clearance.
... of the most striking findings of the present study was the observation that microbial control in the models analysed was apparently not impaired in Trem1 2/2 mice in spite ... See full document
17
Role of somatostatin receptor-2 in gentamicin-induced auditory hair cell loss in the Mammalian inner ear.
... publication in this manuscript, the images were optimized to achieve uniform brightness and contrast using Adobe Photoshop (Adobe Systems ...from the SG was evaluated by measuring the number ... See full document
10
Diagnóstico genético de duas famílias com casos de Acidose tubularrenal distal por meio de Whole-Exome Sequencing
... recessive. The autosomal recessive disorder is associ- ated with ocular abnormalities, frequently coursing with mental ...Loss-of-function mutations in the gene that codi- fies the ... See full document
81
EFFECTS OF MELANOCORTIN-4 RECEPTOR GENE ON GROWTH AND MEAT TRAITS IN PIGS RAISED IN RUSSIA
... intake in pigs could have a great economic impact on pork ...2014). The Melanocortin-4 Receptor (MC4R) is one of the most important signaling molecules involved in the ... See full document
6
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