Suchergebnis | Hamburg Open Science

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27 Einträge gefunden

Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes
2023 - Forschungsinformationssystem des UKE - frei zugänglich
A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome
2022 - Forschungsinformationssystem des UKE - frei zugänglich
The focal adhesion protein β-parvin controls cardiomyocyte shape and sarcomere assembly in response to mechanical load
2022 - Forschungsinformationssystem des UKE
The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects
2020 - Forschungsinformationssystem des UKE
16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome
2019 - Forschungsinformationssystem des UKE
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
2018 - Forschungsinformationssystem des UKE - frei zugänglich
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
2018 - Forschungsinformationssystem des UKE
Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS Mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics
2017 - Forschungsinformationssystem des UKE
The role of the multidisciplinary health care team in the management of patients with Marfan syndrome
2016 - Forschungsinformationssystem des UKE - frei zugänglich
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
2015 - Forschungsinformationssystem des UKE
αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor
2015 - Forschungsinformationssystem des UKE - frei zugänglich
Exom-Sequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome: Erfahrungen aus Hamburg
2014 - Forschungsinformationssystem des UKE
RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR
2014 - Forschungsinformationssystem des UKE
Reelin and the Cdc42/Rac1 guanine nucleotide exchange factor αPIX/Arhgef6 promote dendritic Golgi translocation in hippocampal neurons
2013 - Forschungsinformationssystem des UKE
Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome
2013 - Forschungsinformationssystem des UKE
A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm
2013 - Forschungsinformationssystem des UKE
Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits.
2012 - Forschungsinformationssystem des UKE
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
2012 - Forschungsinformationssystem des UKE
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.
2011 - Forschungsinformationssystem des UKE
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
2010 - Forschungsinformationssystem des UKE

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Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes

A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome

The focal adhesion protein β-parvin controls cardiomyocyte shape and sarcomere assembly in response to mechanical load

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome

RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1

A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay

Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS Mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics

The role of the multidisciplinary health care team in the management of patients with Marfan syndrome

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor

Exom-Sequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome: Erfahrungen aus Hamburg

RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR

Reelin and the Cdc42/Rac1 guanine nucleotide exchange factor αPIX/Arhgef6 promote dendritic Golgi translocation in hippocampal neurons

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome

A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm

Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits.

A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.

Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.