Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.
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The 3M complex maintains microtubule and genome integrityUbiquitin ligase cullin 7 induces epithelial-mesenchymal transition in human choriocarcinoma cellsAn OBSL1-Cul7Fbxw8 ubiquitin ligase signaling mechanism regulates Golgi morphology and dendrite patterningThe CUL7 E3 ubiquitin ligase targets insulin receptor substrate 1 for ubiquitin-dependent degradationExome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growthDisruption of the Fbxw8 gene results in pre- and postnatal growth retardation in miceGenetically engineered mouse models for functional studies of SKP1-CUL1-F-box-protein (SCF) E3 ubiquitin ligasesNeuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomalyMutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptomsDiversification of the cullin family.Clinical utility gene card for: 3-M syndrome - update 2013.Targeting Cullin-RING E3 ubiquitin ligases for drug discovery: structure, assembly and small-molecule modulation.3M syndrome: a report of four cases in two familiesThe GALNT9, BNC1 and CCDC8 genes are frequently epigenetically dysregulated in breast tumours that metastasise to the brainSpatial organization of ubiquitin ligase pathways orchestrates neuronal connectivity.CUL1 promotes trophoblast cell invasion at the maternal-fetal interface.The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.The cullin7 E3 ubiquitin ligase: a novel player in growth control.Cell-intrinsic drivers of dendrite morphogenesis.Chromosome 6 microdeletion in a patient with syndromic congenital cranial dysinnervation disorder.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.Ataxia telangiectasia-mutated damage-signaling kinase- and proteasome-dependent destruction of Mre11-Rad50-Nbs1 subunits in Simian virus 40-infected primate cellsHigh Expression of Cullin7 Correlates with Unfavorable Prognosis in Epithelial Ovarian Cancer Patients.Frequency distribution of polymorphisms of CYP2C19, CYP2C9, VKORC1 and SLCO1B1 genes in the Yakut population3-M syndrome: a novel CUL7 mutation associated with respiratory distress and a good response to GH therapy.A New Approach To the Diagnosis of Point Mutations in Native DNA Using Graphene Oxide.Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.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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Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 03 August 2007
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Clinical, molecular and histop ...... ew population isolate in Asia.
@en
Clinical, molecular and histop ...... ew population isolate in Asia.
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type
label
Clinical, molecular and histop ...... ew population isolate in Asia.
@en
Clinical, molecular and histop ...... ew population isolate in Asia.
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prefLabel
Clinical, molecular and histop ...... ew population isolate in Asia.
@en
Clinical, molecular and histop ...... ew population isolate in Asia.
@nl
P2093
P2860
P356
P1476
Clinical, molecular and histop ...... new population isolate in Asia
@en
P2093
A Miyashia
A Nogovicina
A Shvedova
A Sukhomyasova
I Nikolaeva
M Nishizawa
P2860
P304
P356
10.1136/JMG.2007.051979
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P577
2007-08-03T00:00:00Z