A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood
Author:
Publisher
Wiley
Subject
Endocrinology, Diabetes and Metabolism,Endocrinology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2265.2011.04028.x/fullpdf
Reference25 articles.
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2. Molecular basis of combined pituitary hormone deficiencies;Cohen;Endocrine Reviews,2002
3. The molecular basis of hypopituitarism;Romero;Trends Endocrinology Metabolism,2009
4. Structure of Pit-1 POU domain bound to DNA as a dimer: unexpected arrangement and flexibility;Jacobson;Genes Development,1997
5. The Ames dwarf gene is required for Pit-1 gene activation;Andersen;Developmental Biology,1995
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1. A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees;Genes;2022-04-08
2. Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature;Molecular Genetics and Metabolism Reports;2021-12
3. A mutation of the β-domain in POU1F1 causes pituitary deficiency due to dominant PIT-1β expression;European Journal of Endocrinology;2021-07-01
4. Development of the Pituitary Gland;Comprehensive Physiology;2020-03-12
5. Disorders of Hypothalamo‐Pituitary Axis;Brook's Clinical Pediatric Endocrinology;2019-08-30
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