Central precocious puberty caused by mutations in the imprinted gene MKRN3.
about
An update on the genetic causes of central precocious pubertyA new pathway in the control of the initiation of puberty: the MKRN3 geneEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseImprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted lociInsights from exome sequencing for endocrine disordersRecurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 MutationsEpigenetic regulation of puberty via Zinc finger protein-mediated transcriptional repressionNeuroendocrine control of the onset of pubertyIncreases in Sex Hormones during Anti-Tumor Necrosis Factor α Therapy in Adolescents with Crohn's Disease.High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.The first Japanese case of central precocious puberty with a novel MKRN3 mutation.Pubertal onset in girls is strongly influenced by genetic variation affecting FSH action.Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarcheA novel MKRN3 missense mutation causing familial precocious puberty.Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and Alström syndromes.Substance p regulates puberty onset and fertility in the female mouse.A case of familial central precocious puberty caused by a novel mutation in the makorin RING finger protein 3 gene.Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B)Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23Familial early puberty: presentation and inheritance pattern in 139 familiesDNA Methylation Patterns in the Hypothalamus of Female Pubertal GoatsShared genetic aetiology of puberty timing between sexes and with health-related outcomes.Decade in review-reproductive endocrinology: Understanding reproductive endocrine disorders.Neuroestradiol in the Stalk Median Eminence of Female Rhesus Macaques Decreases in Association With Puberty OnsetThe genetics of pubertal timing in the general population: recent advances and evidence for sex-specificity.Continuation of gradual weight gain necessary for the onset of puberty may be responsible for obesity later in life.Makorin ortholog LEP-2 regulates LIN-28 stability to promote the juvenile-to-adult transition in Caenorhabditis elegans.Endocrine dysfunctions in children with Williams-Beuren syndrome.Time Course of Central Precocious Puberty Development Caused by an MKRN3 Gene Mutation: A Prismatic Case.New Perspectives on Genomic Imprinting, an Essential and Multifaceted Mode of Epigenetic Control in the Developing and Adult Brain.RBM5 reduces small cell lung cancer growth, increases cisplatin sensitivity and regulates key transformation-associated pathways.Genetic Variations of the KISS1R Gene in Korean Girls with Central Precocious Puberty.Pubertal development and regulation.Puberty in 2013: Unravelling the mystery of puberty.Pros and cons of GnRHa treatment for early puberty in girls.Perspectives in Pediatric Pathology, Chapter 15. Macrorchidism as the Expression of Several Congenital and Acquired Pathologies.Multilocus methylation defects in imprinting disorders.Decade in review-paediatric endocrinology: New genes, new therapies.Gene Targeting in Neuroendocrinology.
P2860
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P2860
Central precocious puberty caused by mutations in the imprinted gene MKRN3.
description
2013 nî lūn-bûn
@nan
2013 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Central precocious puberty caused by mutations in the imprinted gene MKRN3.
@ast
Central precocious puberty caused by mutations in the imprinted gene MKRN3.
@en
Central precocious puberty caused by mutations in the imprinted gene MKRN3.
@nl
type
label
Central precocious puberty caused by mutations in the imprinted gene MKRN3.
@ast
Central precocious puberty caused by mutations in the imprinted gene MKRN3.
@en
Central precocious puberty caused by mutations in the imprinted gene MKRN3.
@nl
prefLabel
Central precocious puberty caused by mutations in the imprinted gene MKRN3.
@ast
Central precocious puberty caused by mutations in the imprinted gene MKRN3.
@en
Central precocious puberty caused by mutations in the imprinted gene MKRN3.
@nl
P2093
P2860
P356
P1476
Central precocious puberty caused by mutations in the imprinted gene MKRN3
@en
P2093
Ana Paula Abreu
Andrew Dauber
Carlos Alberto Longui
Cristiane Kochi
Delanie B Macedo
Dominique Beckers
Francis de Zegher
Iain R Thompson
Joel N Hirschhorn
John C Gill
P2860
P304
P356
10.1056/NEJMOA1302160
P407
P577
2013-06-05T00:00:00Z