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Molecular characterization of the llama FGF5 gene and identification of putative loss of function mutations
(Wiley Blackwell Publishing, Inc, 2017-12)
Llama, the most numerous domestic camelid in Argentina, has good fiber-production ability. Although a few genes related to other productive traits have been characterized, the molecular genetic basis of fiber growth control ...
Characterization and expression analysis of KIT and MITF ‐M genes in llamas and their relation to white coat color
(Wiley Blackwell Publishing, Inc, 2019-02)
The llama (Lama glama) is a fiber-producing species that presents a wide range of coat colors, among which white is one of the most important for the textile industry. However, there is little information about the molecular ...
An intramolecular ionic interaction linking defective sodium/iodide symporter transport to the plasma membrane and dyshormonogenic congenital hypothyroidism
(Mary Ann Liebert, 2022-01)
The sodium/iodide symporter (NIS) mediates active iodide accumulation in the thyroid follicular cell. Autosomal recessive iodide transport defect (ITD)-causing loss-of-function NIS variants lead to dyshormonogenic congenital ...
A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process: Cell expression and bioinformatic analysis
(Elsevier Ireland, 2021-02)
Thyroglobulin (TG) is a homodimeric glycoprotein synthesized by the thyroid gland. To date, two hundred twenty-seven variations of the TG gene have been identified in humans. Thyroid dyshormonogenesis due to TG gene mutations ...
Intron retention as an alternative splice variant of the rat urocortin 1 geneNEUROSCIENCENEUROSCIENCE
(PERGAMON-ELSEVIER SCIENCE LTD,, 2017)
The estrogen receptor α Σ3 mRNA splicing variant is differentially regulated by estrogen and progesterone in the rat uterus
(BioScientifica, 2005-07)
The gene for estrogen receptor a (ERa) has been shown to be under complex hormonal control and its activity can be regulated by mRNA alternative splicing. Here we examined the regulation of ERa transcription and translation ...