SOX3 Deletion in Mouse and Human Is Associated With Persistence of the Craniopharyngeal Canal

Alatzoglou, Kyriaki S.; Azriyanti, A.; Rogers, Nicholas; Ryan, Fiona; Curry, Noel; Noakes, C.A.; Bignell, P; Hall, Georgina; Littooij, Annemieke S.; Saunders, DE; Thomas, Paul Q.; Stewart, H.J.; Dattani, Mehul

doi:10.1210/jc.2014-1160

Cited by 34 publications

(22 citation statements)

References 30 publications

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“…The SOX3 gene maps to chromosome Xq27, which is one of the earliest neural markers in vertebrates [ 32 ]. SOX3 acts as a key regulator of biological behavior in a variety of cells, including the development of pituitary and testis [ 33 , 34 ]. SOX3 is highly expressed in esophageal squamous cell carcinoma, and is associated with poor prognosis [ 35 ].…”

Section: Introductionmentioning

confidence: 99%

Knockdown of SOX2OT inhibits the malignant biological behaviors of glioblastoma stem cells via up-regulating the expression of miR-194-5p and miR-122

et al. 2017

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BackgroundAccumulating evidence has highlighted the potential role of long non-coding RNAs (lncRNAs) in the biological behaviors of glioblastoma stem cells (GSCs). Here, we elucidated the function and possible molecular mechanisms of the effect of lncRNA-SOX2OT on the biological behaviors of GSCs.ResultsReal-time PCR demonstrated that SOX2OT expression was up-regulated in glioma tissues and GSCs. Knockdown of SOX2OT inhibited the proliferation, migration and invasion of GSCs, and promoted GSCs apoptosis. MiR-194-5p and miR-122 were down-regulated in human glioma tissues and GSCs, and miR-194-5p and miR-122 respectively exerted tumor-suppressive functions by inhibiting the proliferation, migration and invasion of GSCs, while promoting GSCs apoptosis. Knockdown of SOX2OT significantly increased the expression of miR-194-5p and miR-122 in GSCs. Dual-luciferase reporter assay revealed that SOX2OT bound to both miR-194-5p and miR-122. SOX3 and TDGF-1 were up-regulated in human glioma tissues and GSCs. Knockdown of SOX3 inhibited the proliferation, migration and invasion of GSCs, promoted GSCs apoptosis, and decreased TDGF-1 mRNA and protein expression through direct binding to the TDGF-1 promoter. Over-expression of miR-194-5p and miR-122 decreased the mRNA and protein expression of SOX3 by targeting its 3’UTR. Knockdown of TDGF-1 inhibited the proliferation, migration and invasion of GSCs, promoted GSCs apoptosis, and inhibited the JAK/STAT signaling pathway. Furthermore, SOX3 knockdown also inhibited the SOX2OT expression through direct binding to the SOX2OT promoter and formed a positive feedback loop.ConclusionThis study is the first to demonstrate that the SOX2OT-miR-194-5p/miR-122-SOX3-TDGF-1 pathway forms a positive feedback loop and regulates the biological behaviors of GSCs, and these findings might provide a novel strategy for glioma treatment.Electronic supplementary materialThe online version of this article (10.1186/s12943-017-0737-1) contains supplementary material, which is available to authorized users.

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Section: Introductionmentioning

confidence: 99%

Knockdown of SOX2OT inhibits the malignant biological behaviors of glioblastoma stem cells via up-regulating the expression of miR-194-5p and miR-122

et al. 2017

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“…MRI findings include an undescended posterior pituitary, anterior pituitary hypoplasia, or persistence of the craniopharyngeal canal ( Woods et al . 2005 , Alatzoglou et al . 2014 ).…”

Section: Combined Pituitary Hormone Deficienciesmentioning

confidence: 99%

Recent advances in central congenital hypothyroidism

Schoenmakers¹,

Alatzoglou²,

Chatterjee³

et al. 2015

Journal of Endocrinology

112

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Central congenital hypothyroidism (CCH) may occur in isolation, or more frequently in combination with additional pituitary hormone deficits with or without associated extrapituitary abnormalities. Although uncommon, it may be more prevalent than previously thought, affecting up to 1:16 000 neonates in the Netherlands. Since TSH is not elevated, CCH will evade diagnosis in primary, TSH-based, CH screening programs and delayed detection may result in neurodevelopmental delay due to untreated neonatal hypothyroidism. Alternatively, coexisting growth hormones or ACTH deficiency may pose additional risks, such as life threatening hypoglycaemia. Genetic ascertainment is possible in a minority of cases and reveals mutations in genes controlling the TSH biosynthetic pathway (TSHB, TRHR, IGSF1) in isolated TSH deficiency, or early (HESX1, LHX3, LHX4, SOX3, OTX2) or late (PROP1, POU1F1) pituitary transcription factors in combined hormone deficits. Since TSH cannot be used as an indicator of euthyroidism, adequacy of treatment can be difficult to monitor due to a paucity of alternative biomarkers. This review will summarize the normal physiology of pituitary development and the hypothalamic–pituitary–thyroid axis, then describe known genetic causes of isolated central hypothyroidism and combined pituitary hormone deficits associated with TSH deficiency. Difficulties in diagnosis and management of these conditions will then be discussed.

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“…Altered dosage of SOX3 (a X-linked gene with HMG box highly homologue to SRY) deletions and duplications, polyalanine tract variations should be screened for in patients with hypopituitarism (from isolated GH deficiency to panhypopituitarism), with or without mental retardation, even in the context of a structurally normal pituitary. Most of patients have PSIS and some have clefts or brain anomalies (corpus callosum hypoplasia, persistent craniopharyngeal canal) or diverse phenotypes such as 46,XX testicular disorder of sex development, X-linked hypoparathyroidism, X-linked congenital hypertrichosis, minor facial dysmorphism, speech or hearing impairment (27,28).…”

Section: Discussionmentioning

confidence: 99%

Pituitary Stalk Interruption Syndrome: Report of Two Cases and Literature Review

Lichiardopol

Albulescu

2017

Acta Endo (Buc)

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Pituitary stalk interruption syndrome (PSIS) consisting of the triad: ectopic posterior pituitary (EPP), thin or absent pituitary stalk and anterior pituitary hypoplasia is a rare pituitary malformation with variable degrees of pituitary insufficiency, from isolated growth hormone deficiency to TSH, gonadotropin and ACTH deficiency which may occur in time, with normo, hyper or hypoprolactinemia and central diabetes insipidus in up to 10% of cases. Also, extrapituitary malformations have been described in some cases. Genetic defects were identified only in 5% of cases. MRI findings are considered predictive for the endocrine phenotype. We aim to describe two cases with PSIS without central diabetes insipidus, anosmia and extrapituitary malformations, except for minor head dysmorphic features. The first case was referred at the age of 4 years for short stature (-4SDS for height, bone age 2 years), diagnosed with severe GH deficiency and developed central hypothyroidism and hypoprolactinemia during five-years follow-up. The second case, a 26 year old male with birth asphyxia, cryptorchidism, poor growth in childhood and adolescence (-3 to-4 height SDS), absent puberty and normal adult height (-1.18 SDS; bone age 15.5 years and active growth plates) had GH, TSH, ACTH deficiency and low normal PRL levels. Increasing medical awareness on PSIS clinical and endocrine heterogeneity may help a more early and accurate diagnosis. Corroboration of neuroimaging and endocrine data will improve our knowledge and understanding and will create premises for molecular diagnosis, genetic counseling and a better patients' management.

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SOX3 Deletion in Mouse and Human Is Associated With Persistence of the Craniopharyngeal Canal

Cited by 34 publications

References 30 publications

Knockdown of SOX2OT inhibits the malignant biological behaviors of glioblastoma stem cells via up-regulating the expression of miR-194-5p and miR-122

Knockdown of SOX2OT inhibits the malignant biological behaviors of glioblastoma stem cells via up-regulating the expression of miR-194-5p and miR-122

Recent advances in central congenital hypothyroidism

Pituitary Stalk Interruption Syndrome: Report of Two Cases and Literature Review

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