“…Background: Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. Mutations in the gene CYP21A2 encoding adrenal enzyme 21-hydroxylase (P450c21) leads to blockage of corticol synthesis and diversion of its precursors to sex hormone biosynthesis. …”
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“…The most severe form of hyperinsulinemia arises from congenital hyperinsulinism (CHI), a set of genetic disorders in which the underlying pathology is driven by mutations in key genes that regulate insulin secretion. …”
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“…PUH was in the left adrenal in 7 out of 9 cases (78%). Hot spot somatic mutations in aldosterone-driver genes (KCNJ5, ATP1A1, ATP2B3 and CTNNB1) were excluded by Sanger automated sequencing and the presence of chimeric CYP11B1/CYP11B2 gene was ruled out by long-PCR in all cases. …”
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“…Background: Heterozygous germline loss-of-function mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene are usually associated with acromegaly or gigantism due to a young-onset somatotropinoma. …”
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“…To date, at least 14 tumor susceptibility genes have been described. Mutations in the succinate dehydrogenase complex iron sulfur subunit B gene (SDHB) are more associated with paragangliomas and metastatic disease. …”
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“…Congenital hyperinsulinism (CHI) results from mutations within the insulin secretion pathway and is characterized by excessive and/or inappropriate insulin secretion by pancreatic islet β-cells. …”
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“…Over 2/3 of paragangliomas are sporadic; genetic mutations of the SDH complex subtype account for most familial forms. …”
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“…Other causes include neck irradiation, infections like HIV, infiltration of the glands by heavy metals such as iron or copper; genetic disorders of parathyroid gland development, parathyroid hormone synthesis and calcium sensing receptor mutations, and finally autoimmune etiologies. Our patient had none of the risk factors for developing hypoparathyroidism. …”
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“…In order to analyze a possible role for epigenetic loss of piRNA machinery in seminomas from AIS patients, we performed a methylation analyses using bisulfite modification coupled to pyrosequencing of the 5’ end promoter CpG islands of the main PIWI protein genes (PIWI1, PIWI2 and PIWI4) and of the transposable element LINE-1 (long intersped element - 1) in gonads samples with anatomopathological seminoma from patients with proved AIS (AR mutations: c.2521C>G and c.384_385delGA; both with complete AIS). …”
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“…X-linked hypophosphatemia, due to PHEX mutations results in elevated fibroblast growth factor 23, hypophosphatemia and rickets/osteomalacia. …”
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“…Immunohistochemical staining of the ACC were positive for IGF-2 and cytoplasmic/nuclear β-catenin, however, no somatic APC or beta-catenin mutations were found. This case illustrates that 1) small adrenal incidentaloma stable in size may progress to ACC 2) better genetic characterization of these patients may eventually give clues to this unusual evolution.…”
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“…Therefore, we sought out to determine which estrogenic genes are regulated by AF-1 using the AF-2 mutated knock-in (KI) mouse model, AF2ERKI. AF2ER is an estrogen-insensitive mutant ERα but unique to this mutant, AF-1 can be activated by estrogen-antagonists, such as fulvestrant (ICI) and 4-hydroxytamoxifen, in vitro and in vivo. …”
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“…In particular, PROP1 is a member of the paired-like family of homeodomain transcription factors, is expressed early in Rathke’s pouch and is key in the developing pituitary. In humans, PROP1 mutations are the leading causes of Combined Pituitary Hormone Deficiency (CPHD). …”
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“…Congenital hyperinsulinism is a rare genetic disorder that causes severe hypoglycemia and can lead to permanent brain damage if inadequately controlled. Gain of function mutations in glutamate dehydrogenase (GDH) result in hyperinsulinism hyperammonemia (HI/HA) syndrome, the second most common cause of congenital hyperinsulinism. …”
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“…NK cells isolated from patients with WHIM syndrome carry gain-of-function (GOF) mutations in CXCR4 (CXCR4(R334X)). Compared to healthy donors, we observed that NK cells expanded from WHIM patients have similar surface levels of CXCR4 but have a much stronger propensity to home to BM compartments when adoptively infused into NOD-scid IL2Rgamma(null) (NSG) mice. …”
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“…Here, molecular assays have been developed to screen for mutations associated with insecticide resistance on the voltage-gated sodium channel (VGSC) and acetylcholinesterase-1 (Ace-1) genes in four malaria vectors from Latin America. …”
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“…For this purpose, seven separate gene-specific knockout mutants were generated by homologous recombination in ocular E. coli. The genes that were mutated included three transmembrane genes ytfR (ABC transporter ATP-binding protein), mdtO (multidrug efflux system) and tolA (inner membrane protein), ryfA coding for non-coding RNA and three metabolic genes mhpA (3-3-hydroxyphenylpropionate 1,2-dioxygenase), mhpB (2,3-di hydroxyphenylpropionate 1,2-dioxygenase), and bdcR (regulatory gene of bdcA). …”
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“…OBJECTIVE: Mutations in low-density lipoprotein receptor (LDLR), which encodes a critical protein for cholesterol homeostasis and lipid metabolism in mammals, are involved in cardiometabolic diseases, such as familial hypercholesterolemia in pigs. …”
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“…More macrophages were found in lung squamous cell carcinoma (LUSC) patients, patients with wild-type EGFR, and smokers than in patients with lung adenocarcinoma (LUAD), patients with EGFR mutations, and non-smokers. Infiltration of centralM2 was an independent prognostic factor of poor overall survival (OS) and disease-free survival (DFS) for NSCLC patients (P<0.05), which was superior to total macrophages and total M2 macrophages. …”
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“…METHODS: Cells containing inducible K-Ras(G12V) expression vector or with different K-Ras mutational statuses were used as in vitro models to examine the regulation of CD137 expression by K-Ras. …”
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