Combined pituitary hormone deficiency (CPHD) due to a complete <i>PROP1</i> deletion

Abrão, Milena Garcia; Leite, Maria Laís dos Santos; Carvalho, Luciani R.; Billerbeck, Ana Elisa C.; Nishi, Mirian Yumie; Barbosa, Angela Silva; Martin, Regina Matsunaga; Arnhold, Ivo J.P.; Mendonca, Berenice B.

doi:10.1111/j.1365-2265.2006.02592.x

Cited by 34 publications

(44 citation statements)

References 43 publications

(115 reference statements)

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“…If a large proportion of Alu elements indeed fosters euchromatic domains as suggested by the aforementioned study (Willoughby et al, 2000), then flanking sequences may also be destabilized. Interestingly, high concentrations of Alu elements have been associated with disease-causing deletions whose breakpoints were not in the Alu elements themselves (Abrao et al, 2006;Abu-Safieh et al, 2006). LINE-1 elements located among high concentrations of such Alu elements might be rendered euchromatic.…”

Section: Non-random Repeat Distributions Via Natural Selectionmentioning

confidence: 99%

Repetitive sequence environment distinguishes housekeeping genes

Eller¹,

Regelson²,

Merriman³

et al. 2007

Gene

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Housekeeping genes are expressed across a wide variety of tissues. Since repetitive sequences have been reported to influence the expression of individual genes, we employed a novel approach to determine whether housekeeping genes can be distinguished from tissue-specific genes their repetitive sequence context. We show that Alu elements are more highly concentrated around housekeeping genes while various longer (>400-bp) repetitive sequences ("repeats"), including Long Interspersed Nuclear Element 1 (LINE-1) elements, are excluded from these regions. We further show that isochore membership does not distinguish housekeeping genes from tissue-specific genes and that repetitive sequence environment distinguishes housekeeping genes from tissue-specific genes in every isochore. The distinct repetitive sequence environment, in combination with other previously published sequence properties of housekeeping genes, were used to develop a method of predicting housekeeping genes on the basis of DNA sequence alone. Using expression across tissue types as a measure of success, we demonstrate that repetitive sequence environment is by far the most important sequence feature identified to date for distinguishing housekeeping genes.

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Section: Non-random Repeat Distributions Via Natural Selectionmentioning

confidence: 99%

Repetitive sequence environment distinguishes housekeeping genes

Eller¹,

Regelson²,

Merriman³

et al. 2007

Gene

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“…PITX1 expression is initiated in the developing pituitary before PROP1 (E9.0 and E11.5, respectively), and the earlier blockade of NOTCH signaling may explain the more severe phenotype in the above described Pitx1-Cre/ Rbp-J fl/fl mice (Olson et al 2006, Zhu et al 2006. Moreover, PROP1 expression failed to peak in Pitx1-Cre/Rbp-J fl/fl mice at E12.5 (Zhu et al 2006), appointing Prop1 as a target gene of NOTCH signaling, which may further contribute to the fiercer phenotype as PROP1 deficiency is well known to result in combined pituitary hormone deficiency (Abrão et al 2006). During embryogenesis, Prop1-Cre/ Rbp-J fl/fl mice showed a reduction in proliferating SOX2 + cells, both in the developing AP and IL (Zhu et al 2015).…”

Section: :3mentioning

confidence: 99%

Pituitary stem cell regulation: who is pulling the strings?

Cox

Roose

Vennekens

et al. 2017

Journal of Endocrinology

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The pituitary gland plays a pivotal role in the endocrine system, steering fundamental processes of growth, metabolism, reproduction and coping with stress. The adult pituitary contains resident stem cells, which are highly quiescent in homeostatic conditions. However, the cells show marked signs of activation during processes of increased cell remodeling in the gland, including maturation at neonatal age, adaptation to physiological demands, regeneration upon injury and growth of local tumors. Although functions of pituitary stem cells are slowly but gradually uncovered, their regulation largely remains virgin territory. Since postnatal stem cells in general reiterate embryonic developmental pathways, attention is first being given to regulatory networks involved in pituitary embryogenesis. Here, we give an overview of the current knowledge on the NOTCH, WNT, epithelial-mesenchymal transition, SHH and Hippo pathways in the pituitary stem/progenitor cell compartment during various (activation) conditions from embryonic over neonatal to adult age. Most information comes from expression analyses of molecular components belonging to these networks, whereas functional extrapolation is still very limited. From this overview, it emerges that the 'big five' embryonic pathways are indeed reiterated in the stem cells of the 'lazy' homeostatic postnatal pituitary, further magnified en route to activation in more energetic, physiological and pathological remodeling conditions. Increasing the knowledge on the molecular players that pull the regulatory strings of the pituitary stem cells will not only provide further fundamental insight in postnatal pituitary homeostasis and activation, but also clues toward the development of regenerative ideas for improving treatment of pituitary deficiency and tumors.

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“…Literatūros duomenimis, radiologiniai pokyčiai hi-pofizės srityje gali būti labai įvairūs: nuo hipofizės tūrio padidėjimo (hiperplazija, pseudonavikas "turkiš-kojo balno" srityje, imituojantis kraniofaringeomą arba Ratkės pluošto cistą) iki hipofizės hipoplazijos ("tuščio turkiškojo balno" sindromo); kartais hipofizė būna normalių matmenų (6,7,(11)(12)(13)(14)(15)(16). Kartojant vaizdinius tyrimus po kiek laiko, kartais būna hipofizės regresija (6,11,12,16).…”

Section: Genetiškai Determinuotas Hipopituitarizmasunclassified

“…Kartojant vaizdinius tyrimus po kiek laiko, kartais būna hipofizės regresija (6,11,12,16). Kelių tyrimų autoriai užfik-savo per atskirus laiko tarpus besikeičiantį hipofizės dydį ("dvibangė hipofizės hiperplazija") (17,18).…”

Section: Genetiškai Determinuotas Hipopituitarizmasunclassified