PROP1 Antibody

1. PROP1 mutations are a prevalent cause of congenital CPHD with OPP, and therefore, PROP1 sequencing must be the first step of molecular investigation in patients with CPHD and OPP, especially in populations with a high frequency of PROP1 mutations. PMID: 28734020
2. Deletion in the PROP1 gene is associated with Combined pituitary hormone deficiency. PMID: 28356564
3. The anterior pituitary gland comprised specialized cell-types that arise from stem cells expressing SOX2 and PROP1, which is necessary to establish the stem cell pool and promote an epithelial to mesenchymal-like transition, releasing progenitors from the niche. [review] PMID: 27650955
4. GH replacement successfully corrects the growth deficit in children with Growth Hormone Deficiency . While the genetic aetiology remains undefined in most cases of Isolated Growth Hormone Deficiency , PROP1 mutations constitute a major cause for Multiple Pituitary Hormone Deficiencies. Persistence of Growth Hormone Deficiency into adulthood is related to abnormal pituitary morphology. PMID: 27487097
5. The present study reports on screening of POU1F1, PROP1, and HESX1 in combined pituitary hormone deficiency patients and the novel variations identified. PMID: 27756091
6. A compound heterozygosity in the PROP1 gene has been identified for both probands. The first change represents a mutational hot spot (c.150delA, p.R53fsX164), whereas the second is a novel alteration (p.R112X) that leads to protein disruption. The resulting clinical phenotype was surprisingly distinct compared to most patients with genetic alterations in PROP1. PMID: 26608600
7. the most frequent variants in the PROP1 gene are not a consequence of variant hot spots as previously assumed, but are founder variants. PMID: 26059845
8. Data show that human paired like homeodomain factor 1 (PROP1) can substitute functionally for mouse Prop1. PMID: 26812162
9. A novel heterozygous mutation in the HESX1 gene and a novel homozygous mutation in the PROP1 gene were detected in 2 pedigrees with combined pituitary hormone deficiency PMID: 26111865
10. The c.301_302delAG homozygous genotype had a high frequency of 38%, reaching 100% in group with familial cases of multiple pituitary hormone deficiency and 16% in group with sporadic forms of MPHD. PMID: 25581745
11. investigated the specific mutations in PROP1, POU1F1, LHX3, and HESX1 genes in patients with combined pituitary hormone deficiency (CPHD) in Turkey PMID: 25500790
12. The p.R73C PROP1 mutation was the most frequent mutation in Congenital hypopituitarism in a Moroccan cohort. PMID: 25557026
13. The various levels of specific miRNAs, particularly miR-593 and miR-511 whose direct target is the PROP1 gene, may serve as a non-invasive diagnostic biomarkers for children with CPHD. PMID: 25434367
14. mutations in the PROP-1 gene in cases with CPHD were expected to be more prevalent in our population due to consanguinity, but it was found that these mutations were far less than expected and that it was rare in non-familial cases. PMID: 23692781
15. High prevalence of PROP1 defects in Lithuania is due to 296delGA mutation, suggesting a founder effect. PMID: 24178788
16. A homozygous frameshift mutation of PROP1 (296delGA) was identified in siblings. Defects in PROP1 cause progressive deficiency of multiple pituitary hormones; PROP1 deficiency may present as isolated central hypothyroidism at a very young age PMID: 23652424
17. AES binds to PROP1 and represses its expression; PROP1 mutation is a likely cause of combined pituitary hormone deficiency. PMID: 23732115
18. Case Report: unfavourable long-term course of an untreated patient with PROP-1 gene mutation-associated combined pituitary horme deficiency. PMID: 23624138
19. Peculiar prolactinomas in patients with pituitary developmental PROP1 gene mutations PMID: 22801565
20. Variations with a functional significance conferring susceptibility to combined growth hormone deficiency have been identified in the PROP1 gene PMID: 22745233
21. PROP1 dysregulation was not likely involved in the pathogenesis of adamantinomatous craniopharyngiomas in this cohort of patients. PMID: 22086512
22. Although pituitary size was increased in a number of PROP1-deficient patients, none of them suffered permanent damage from pituitary mass; therefore, any proposed surgery should be postponed as long as possible. PMID: 22024773
23. Among two sibling pairs, one pair that presented with complete anterior pituitary insufficiency, had a compound heterozygous PROP1 gene mutation with a phenotype of very late onset ACTH-insufficiency. PMID: 21132537
24. Data show no mutations in HESX1, PROP1, and POU1F1 genes, seven different mutations in CTNNB1 in 8/16 patients, and hyperexpression of miR-150. PMID: 21761366
25. Mutations in the PROP1 and HESX1 genes were not identified in these patients with sporadic growth hormone defiency, combined pituitary hormone deficiency and septo-optic dysplasia. PMID: 20694410
26. the largest genomic deletion including PROP1 gene associated with CPHDis reported. The 7.7-kb segment upstream of the transcription of PROP1 probably harbors a fragile site that favors the occurrence of breakpoints. PMID: 20395664
27. These results support the inference that W194XProp1 is unable to increase POU1F1 gene expression by the defect of transactivating domain and that S156insTProp1 is unable to increase due to the loss of DNA-binding activity. PMID: 20381582
28. Studies suggest that TLE1 and TLE3 might also play roles independent of HESX1 by interacting with other transcription factors like PROP1. PMID: 20181723
29. deletion in the PROP1 gene can cause pituitary pseudotumor PMID: 11822586
30. mutation causes familial combined pituitary hormone deficiency PMID: 12006708
31. Mutations in the PROP1 gene are responsible for a high proportion of cases of multiple or combined anterior pituitary hormone deficiencies in humans. PMID: 12464226
32. pituitary hormone deficiency due to novel mutation R99Q in hot spot region of PROP-1 causing growth disorder; mutant PROP-1 displays a decrease in DNA binding on a paired box response element and trans-activation of a luciferase reporter gene PMID: 12519826
33. PROP-1 which is required for generation of hormone producing cells in the anterior pituitary gland, have proved to be important in the cause of hypopituitarism in humans-- REVIEW PMID: 12717343
34. PIT1 mutations in man are associated with...thyroid stimulating hormone and growth hormone deficiency... p. 278 PMID: 14646405
35. Mutations within PROP1 are associated with growth hormone, prolactin, thyroid stimulating hormone, gonadotrophin and variable cortisol deficiency. p. 207 PMID: 14714741
36. Significant number of young patients with Prop1 gene mutations demonstrate pituitary enlargement with subsequent regression. PMID: 15126542
37. Patients with Prop1 gene mutations constitute a unique model for studying the role of somatropin and prolactin in ovulation, pregnancy, and fetal growth. PMID: 15302300
38. anterior pituitary function in patients with PROP1 mutations deteriorates progressively and includes adrenal insufficiency PMID: 15472232
39. PROP1 mutations should be considered among the growing number of genetic causes of initially isolated hypogonadotropic hypogonadism. PMID: 15941866
40. Combined pituitary hormone deficiency caused by a sequence deletion mutation in PROP1. PMID: 16703408
41. PROP1 gene mutations can be detected in a high proportion of Hungarian patients with non-acquired childhood-onset growth hormone deficiency combined with at least one other anterior pituitary hormone defect. PMID: 17526936
42. remarkable phenotypic variability in combined pituitary hormone deficiency in siblings with the R120C mutation PMID: 17526949
43. the prevalence of PROP1 mutations was higher when only consanguineous families were considered (44%, 4/9). Patients with idiopathic CPHD and NPPP, born from consanguineous parents, are the strong candidates for PROP1 mutations. PMID: 18157385
44. The novel functioning binding elements of Prop1 in human Pit-1 gene. PMID: 18653712
45. We have described four novel mutations in PROP1 in 3 pedigrees, all resulting in PROP1 deficiency by different mechanisms. PMID: 19128366

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HGNC: 9455

OMIM: 262600

KEGG: hsa:5626

STRING: 9606.ENSP00000311290

UniGene: Hs.158301