Central precocious puberty caused by mutations in the imprinted gene MKRN3. - Wikidata - awgldk - TriplyDB

Central precocious puberty caused by mutations in the imprinted gene MKRN3.

Central precocious puberty caused by mutations in the imprinted gene MKRN3.

http://www.wikidata.org/entity/Q34348835

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An update on the genetic causes of central precocious puberty A new pathway in the control of the initiation of puberty: the MKRN3 gene Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci Insights from exome sequencing for endocrine disorders Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations Epigenetic regulation of puberty via Zinc finger protein-mediated transcriptional repression Neuroendocrine control of the onset of puberty Increases 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 menarche A 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 7q11.23 Familial early puberty: presentation and inheritance pattern in 139 families DNA Methylation Patterns in the Hypothalamus of Female Pubertal Goats Shared 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 Onset The 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.

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P2860

Central precocious puberty caused by mutations in the imprinted gene MKRN3.

http://www.wikidata.org/entity/Q34348835

description

2013 nî lūn-bûn

@nan

2013 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2013 թվականի հունիսին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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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

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The New England Journal of Medicine

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Central precocious puberty caused by mutations in the imprinted gene MKRN3

@en

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Ana Paula Abreu

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Andrew Dauber

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Carlos Alberto Longui

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Cristiane Kochi

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Delanie B Macedo

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Dominique Beckers

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Francis de Zegher

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Iain R Thompson

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Joel N Hirschhorn

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John C Gill

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P2860

A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region

Mutations of the KISS1 gene in disorders of puberty

Lin28a transgenic mice manifest size and puberty phenotypes identified in human genetic association studies

Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54

The GPR54 gene as a regulator of puberty

Neurobiological mechanisms of the onset of puberty in primates.

Reproductive hormone-dependent and -independent contributions to developmental changes in kisspeptin in GnRH-deficient hypogonadal mice.

The vertebrate makorin ubiquitin ligase gene family has been shaped by large-scale duplication and retroposition from an ancestral gonad-specific, maternal-effect gene.

A GPR54-activating mutation in a patient with central precocious puberty.

The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.

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2467-2475

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scholarly article

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10.1056/NEJMOA1302160

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P407

P433

26

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368

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Ana Claudia Latronico Xavier

Berenice Bilharinho Mendonca

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2013-06-05T00:00:00Z

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23738509

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3808195

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