A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. - Wikidata - wikimedia - TriplyDB

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

http://www.wikidata.org/entity/Q41973119

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Genetic architecture of body size in mammals The 3M complex maintains microtubule and genome integrity Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth Clinical utility gene card for: 3-M syndrome - update 2013.3M syndrome: a report of four cases in two families The GALNT9, BNC1 and CCDC8 genes are frequently epigenetically dysregulated in breast tumours that metastasise to the brain Identification of the degradation determinants of insulin receptor substrate 1 for signaling cullin-RING E3 ubiquitin ligase 7-mediated ubiquitination.Inhibition of Cullin-RING E3 ubiquitin ligase 7 by simian virus 40 large T antigen.The cullin protein family.Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination.Clinical utility gene card for: 3M syndrome.3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.Fbxw8 is involved in the proliferation of human choriocarcinoma JEG-3 cells.3-M syndrome: a novel CUL7 mutation associated with respiratory distress and a good response to GH therapy.An estimating function approach to linkage heterogeneity.Pregnancy in 3M syndrome.Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency.Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome.Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?

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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

http://www.wikidata.org/entity/Q41973119

description

2008 nî lūn-bûn

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2008年の論文

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2008年論文

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2008年论文

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2008年论文

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2008年论文

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name

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

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European Journal of Human Genetics

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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

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Anee-Lise Delezoide

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Anna Rajab

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Carl-Joachim Partsch

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Carol Chu

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Clarisse Baumann

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Dafne Horovitz

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Daniela Bezerra Da Silva

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David Sillence

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Dominique Bonneau

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Elisabeth Steichen-Gersdorf

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P2860

Structure of the Cul1-Rbx1-Skp1-F boxSkp2 SCF ubiquitin ligase complex

CUL7: A DOC domain-containing cullin selectively binds Skp1.Fbx29 to form an SCF-like complex.

Targeted disruption of p185/Cul7 gene results in abnormal vascular morphogenesis

Function and regulation of cullin-RING ubiquitin ligases

The 3-M syndrome.

3-M syndrome: description of six new patients with review of the literature.

Identification of mutations in CUL7 in 3-M syndrome.

Cytoplasmic localized ubiquitin ligase cullin 7 binds to p53 and promotes cell growth by antagonizing p53 function.

Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region.

Further delineation of the 3-M syndrome with review of the literature.

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395-400

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10.1038/EJHG.2008.200

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3

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17

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Valerie Cormier-Daire

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24023427

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2986175

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