Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy? - Wikidata - wikimedia - TriplyDB

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

http://www.wikidata.org/entity/Q35781937

about

Expansion of the RASopathies Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11.Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.Muscle-derived extracellular signal-regulated kinases 1 and 2 are required for the maintenance of adult myofibers and their neuromuscular junctions.Layer specific and general requirements for ERK/MAPK signaling in the developing neocortex PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.Aortic dilation, genetic testing, and associated diagnoses.Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities.Copy number variants of Ras/MAPK pathway genes in patients with isolated cryptorchidism.Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome.

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Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

http://www.wikidata.org/entity/Q35781937

description

2013 nî lūn-bûn

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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年论文

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Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

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Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

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Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

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Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

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Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

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Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

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Clinical Genetics

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Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

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B A Thompson

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D A S Batista

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G E Graham

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J E Hoover-Fong

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K A Rauen

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M J M Nowaczyk

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P A Sanchez-Lara

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P L Magoulas

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R E Falk

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S M Amudhavalli

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P2860

QRX, a novel homeobox gene, modulates photoreceptor gene expression

EEN encodes for a member of a new family of proteins containing an Src homology 3 domain and is the third gene located on chromosome 19p13 that fuses to MLL in human leukemia

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.

Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

Embryonic death of Mek1-deficient mice reveals a role for this kinase in angiogenesis in the labyrinthine region of the placenta

Mek2 is dispensable for mouse growth and development

Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations

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138-146

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10.1111/CGE.12116

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2

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85

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23379592

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4480871

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