Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.
about
Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.Costello syndrome: Analysis of the posterior cranial fossa in children with posterior fossa crowding.Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics.Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient.An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.Disruption of the Zdhhc9 intellectual disability gene leads to behavioural abnormalities in a mouse model
P2860
Q36573914-99951AF8-14C2-4EB7-9C57-A14274932A58Q36590058-A638BFC1-F469-49D3-88E4-206818DB049FQ38990013-10E1C3C9-4E2D-40A1-B167-D91C6DA95429Q48301802-D5AB105F-A0E5-4996-A15A-6F30E7B525C9Q52312700-DDEF0354-3E53-4161-A152-D5234995CFC0Q52657365-B6AD43A7-1108-4C29-9B98-C33C326266FAQ53711959-6C956CF4-8760-4BA0-9940-04BEAE866D7AQ58794939-BA385DC8-45B2-4D88-8D4C-ACF4D483E5E6
P2860
Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh-hant
name
Functional analysis of a dupli ...... underlying Costello syndrome.
@en
Functional analysis of a duplication
@nl
type
label
Functional analysis of a dupli ...... underlying Costello syndrome.
@en
Functional analysis of a duplication
@nl
prefLabel
Functional analysis of a dupli ...... underlying Costello syndrome.
@en
Functional analysis of a duplication
@nl
P2093
P2860
P356
P1476
Functional analysis of a dupli ...... underlying Costello syndrome.
@en
P2093
Christina Lissewski
Georg Rosenberger
Koray Boduroglu
Pelin O Simsek-Kiper
Sybille Lorenz
Yasemin Alanay
P2860
P304
P356
10.1093/HMG/DDT014
P577
2013-01-17T00:00:00Z