Heritable disorders of pituitary development

JS Parks, MR Brown, DL Hurley… - The Journal of …, 1999 - academic.oup.com
Basic and translational research achievements over the past 2 decades have disclosed the
molecular mechanisms underlying several genetic forms of hypopituitarism. Disorders that …

Combined pituirary hormone deficency: role of Pit‐1 and Prop‐1

RW Pfaffle, O Blankenstin, S Wüller… - Acta …, 1999 - Wiley Online Library
During fetal development of the anterior pituitary gland, a number of sequential processes
occur that effect cell differentiation and proliferation. Molecular anlyses have revealed …

Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301, G302 in the PROP1 gene

BB Mendonca, MGF Osorio… - The Journal of …, 1999 - academic.oup.com
Genomic DNA from 18 patients with combined pituitary hormone deficiency was screened
for 2-bp deletion (A301, G302) in PROP1 gene by Bcg I restriction endonuclease analysis of …

Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene

AL Rosenbloom, AS Almonte, MR Brown… - The Journal of …, 1999 - academic.oup.com
We have investigated the largest family with PROP1 deficiency reported to date. Eight
patients, aged 17–40 yr, in two sibships with possibly related mothers but no parental …

The" Little People" of the island of Krk-revisited. Etiology of hypopituitarism revealed

C Krzisnik, Z Kolacio, T Battelino, M Brown… - … Journal on Disability …, 1999 - degruyter.com
Hereditary dwarfism was first recognized in inhabitants of the island of Krk in the Adriatic in
1864. Since then 24 related dwarfs have been recorded. Their pedigrees and heights are …

Genetics of human hypogonadotropic hypogonadism

LC Layman - American journal of medical genetics, 1999 - Wiley Online Library
Humans with hypogonadotropic hypogonadism (HH) manifest irreversible pubertal delay,
infertility, and low serum levels of follicle‐stimulating hormone (FSH) and luteinizing …

Characterization of Prophet of Pit-1 Gene Expression in Normal Pituitary and Pituitary Adenomas in Humans

Y Nakamura, T Usui, H Mizuta, H Murabe… - The Journal of …, 1999 - academic.oup.com
Prophet of Pit-1 (Prop-1), which is a paired-like homeodomain transcription factor, is capable
of binding to sites in an early enhancer of the Pit-1 gene and regulating its expression …

Combined pituitary hormone deficiency in an inbred Brazilian kindred associated with a mutation in the PROP-1 gene

CR Nogueira, L Sabacan, JL Jameson… - Molecular genetics and …, 1999 - Elsevier
Mutations in the pituitary-specificpaired-like homeodomain transcription factor PROP-1
result in combined pituitary hormone deficiency (CPHD) which includes all anterior pituitary …

Transcription factors regulating pituitary development

JS Parks, MR Brown - Growth Hormone & IGF Research, 1999 - Elsevier
This review will address contributions of nuclear transcription factors to the embryologic
development and definitive function of the anterior pituitary gland. The HESX1, PITX1 …

The molecular basis of human hypogonadotropic hypogonadism

LC Layman - Molecular genetics and metabolism, 1999 - Elsevier
Patients with hypogonadotropic hypogonadism (HH) present with delayed puberty, infertility,
and low serum gonadotropins. The molecular basis for most cases of HH is unknown, but …