Recombinant Human Probable E3 ubiquitin-protein ligase makorin-3 (MKRN3)

1. MKRN3 is involvedt in central precocious puberty also in absence of deleterious mutations, although our sample size is small. Role of MKRN3 in the complex mechanism controlling puberty onset and its interaction with other factors affecting puberty such as nutrition. PMID: 28299573
2. MKRN3 23566445 C/T polymorphism was associated with precocious puberty. PMID: 28988223
3. The prevalence of MKRN3 mutations in our cohort of girls with central precocious puberty was similar to that reported in the literature in sporadic cases but lower than previously described in familial ones. PMID: 28672280
4. Data suggest that a familial case of CPP (central precocious puberty) in which three out of four girls are affected is due to a novel MKRN3 nonsense mutation (p.Glu298Ter, N/E298); the affected siblings are the proband/oldest sister and the youngest sisters, monozygotic twins; there are no sons in this family; the next-to-oldest sister and the father are carriers of this nonsense mutation. [CASE REPORT; LETTER] PMID: 28132164
5. Two heterozygous frameshift mutations (c.441_441delG, p.H148Tfs*23 and c803_803delAT, p.M268Vfs*23) were described in the MKRN3 gene in 2 probands with familial idiopathic central precocious puberty and in some of their family members. These frameshift mutations create a premature stop codon and result in a truncated protein. PMID: 27798941
6. This study demonstrated a high frequency of MKRN3 mutations in boys with Central Precocious Puberty , previously classified as idiopathic, suggesting the importance of genetic analysis in this group. PMID: 27225315
7. The genetic findings in our patients' cohort with central precocious puberty are in agreement with the hypothesis that the MKRN3 gene may act as an inhibitor of GnRH secretion during childhood. 13 It seems that MKRN3 gene alterations do not necessarily lead to early pubertal development in males, but paternally inherited MKRN3 mutations are responsible for central precocious puberty in females. PMID: 27640350
8. MKRN3 is the most frequent genetic cause of familial Idiopathic Central Precocious Puberty, so it is wise to screen for MKRN3 mutations in all patients with familial Idiopathic Central Precocious Puberty and in patients with an unclear paternal pubertal history. PMID: 27931036
9. Declining MKRN3 before pubertal onset support MKRN3 as an inhibitor of GnRH secretion during midchildhood. PMID: 27057785
10. The identification of carriers of MKRN3 mutations may contribute to early diagnosis of Central Precocious Puberty, facilitating treatment decisions and guiding genetic counseling and prompt intervention in familial cases. PMID: 27424312
11. Peripheral MKRN3 levels in boys appear to serve as a readout of the diminishing central inhibition that controls the onset of puberty. PMID: 27025240
12. Data show similar circulating MKRN3 levels in men with congenital hypogonadotropic hypogonadism (CHH)and healthy controls. PMID: 26175221
13. Data indicate that a novel mutation in the makorin ring finger protein 3 (MKRN3) gene in two sisters with central precocious puberty (CPP) was identified. PMID: 26173472
14. the present study reveals a relatively low number of MKRN 3 mutations in Korean girls with CPP. PMID: 25938887
15. Case Report: MKRN3 missense mutation in a Danish girl with central precocious puberty and her brother with early puberty. PMID: 26331766
16. prevalence of MKNR3 mutations is high in familial cases of idiopathic central precocious puberty (iCPP); onset occurs earlier in patients with MKRN3 mutations than in those without the mutations and sexual dimorphism for age at puberty onset persists in patients with mutations; MKRN3 mutations accelerate postnatal development of the gonadotropic axis PMID: 26431553
17. MKRN3 plays an inhibitory role in the reproductive axis to represent a new pathway in pubertal regulation. [Review] PMID: 25957321
18. Declining levels of circulating MKRN3 preceded pubertal onset. The negative correlation between MKRN3 and gonadotropins further supports MKRN3 as a major regulator of hypothalamic GnRH secretion during childhood. PMID: 25695892
19. The MKRN3 protein has a fundamental role in determining pubertal timing. PMID: 25316453
20. MKRN3 mutations appear to be a frequent cause of familial CPP and, considering the imprinted mode of inheritance, may also account for a certain proportion of isolated CPP cases. PMID: 25011910
21. this study identified novel inherited MKRN3 defects in children with apparently sporadic central precocious puberty, supporting a fundamental role of this peptide in the suppression of the reproductive axis. PMID: 24628548
22. A novel MKRN3 mutation (p.C340G) in a girl with central precocious puberty and her brother with early puberty. PMID: 24438377
23. Deficiency of MKRN3 causes central precocious puberty in humans. PMID: 23738509
24. MKRN3 gene is imprinted, with preferential expression from the paternal allele. PMID: 10196367

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HGNC: 7114

OMIM: 603856

KEGG: hsa:7681

STRING: 9606.ENSP00000313881

UniGene: Hs.679587