Disruption of RNA Splicing Is an Important Contributor to Congenital Hypopituitarism and Other Human Genetic Diseases

Endocrinology. 2023 Mar 13;164(5):bqad039. doi: 10.1210/endocr/bqad039.

Authors

Sally A Camper¹, Cathy Smith², Jacob O Kitzman^{1

2}

Affiliations

¹ Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109-5618, USA.
² Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI 48109-5618, USA.

No abstract available

Keywords: POU1F1; branch-point; hypopituitarism; splice enhancer; splice repressor.

Publication types

Research Support, N.I.H., Extramural
Comment

MeSH terms

Dwarfism*
Humans
Hypopituitarism* / genetics
RNA Precursors / metabolism
RNA Splicing / genetics
Transcription Factor Pit-1 / genetics
Transcription Factors / genetics

Substances

RNA Precursors
Transcription Factors
POU1F1 protein, human
Transcription Factor Pit-1

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