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Sinorhizobium meliloti low molecular mass phosphotyrosine phosphatase SMc02309 modifies activity of the UDP-glucose pyrophosphorylase ExoN involved in succinoglycan biosynthesis
(SP MAIK Nauka/Interperiodica, 2016-01)
In Gram-negative bacteria, tyrosine phosphorylation has been shown to play a role in the control of exopolysaccharide (EPS) production. This study demonstrated that the chromosomal ORF SMc02309 from Sinorhizobium meliloti ...
A novel 1297–1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor β gene causes resistance to thyroid hormone
(Springer, 2012-12-01)
Introduction: Resistance to the thyroid hormone (RTH) is an inherited syndrome of reduced tissue responsiveness to hormonal action caused by mutations located in the ligand-binding domain and adjacent hinge region of the ...
XLαs, the extra-long form of the α-subunit of the Gs G protein, is significantly longer than suspected, and so is its companion Alex
(National Academy of Sciences, 2004-06)
Because of the use of alternate exons 1, mammals express two distinct forms of Gsα-subunits: the canonical 394-aa Gsα present in all tissues and a 700+-aa extra-long αs (XLαs) expressed in a more restricted manner. Both ...
PCR-RFLP method for testing ASIP EXON 4 mutations in llamas
(Universität Göttingen, 2019)
The basic coat colors of mammals are determined by the relative proportion of two types of pigments, eumelanin and pheomelanin. The agouti signaling protein (ASIP) plays a crucial role in melanogenesis, by increasing the ...
Two Distinct Compound Heterozygous Constellations (R277X/IVS34-1G〉C and R277X/R1511X) in the Thyroglobulin (TG) Gene in Affected Individuals of a Brazilian Kindred with Congenital Goiter and Defective TG Synthesis
(Endocrine Society, 2004-02)
In this study, we have extended our initial molecular studies of a nonconsanguineous family with two affected siblings and one of their nephews with congenital goiter, hypothyroidism, and marked impairment of thyroglobulin ...
Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism: Characterization of complex cryptic splice sites by minigene analysis
(Elsevier Ireland, 2016-01)
Iodide Organification defects (IOD) represent 10% of cases of congenital hypothyroidism (CH) being the main genes affected that of TPO (thyroid peroxidase) and DUOX2 (dual oxidasa 2). From a patient with clinical and ...