Intronic variant in POU1F1 associated with canine pituitary dwarfism.
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DOI: 10.1007/s00439-021-02259-2
Abstract: The anterior pituitary gland secretes several endocrine hormones, essential for growth, reproduction and other basic physiological functions. Abnormal development or function of the pituitary gland leads to isolated or combined pituitary hormone deficiency (CPHD). At… read more here.
Keywords: dwarfism; pou1f1 associated; intronic variant; pou1f1 ... See more keywords
Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man
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DOI: 10.1093/hmg/ddac192
Abstract: Abstract Congenital hypopituitarism is a genetically heterogeneous condition that is part of a spectrum disorder that can include holoprosencephaly. Heterozygous mutations in SIX3 cause variable holoprosencephaly in humans and mice. We identified two children with… read more here.
Keywords: heterozygous variants; pou1f1; variants six3; cause ... See more keywords
A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion
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DOI: 10.1111/cge.14043
Abstract: Up: A schematic-diagram of POU1F1-gene. Down right: an electrophoretogram of the detected novel pathogenic-variant in comparison with wild-type POU1F1 exon-6 sequence. Down left: Family pedigree of the two-siblings reported. read more here.
Keywords: pathogenic variant; variant two; pou1f1; pou1f1 pathogenic ... See more keywords
A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency.
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DOI: 10.1507/endocrj.ej16-0361
Abstract: POU class 1 homeobox 1 (POU1F1) regulates pituitary cell-specific gene expression of somatotropes, lactotropes, and thyrotropes. In humans, two POU1F1 isoforms (long and short isoform), which are generated by the alternative use of the splice… read more here.
Keywords: isoform; pituitary hormone; pou1f1; combined pituitary ... See more keywords