Geroderma osteodysplastica
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Using whole exome sequencing, we identified novel compound heterozygous nonsense mutations in the GORAB in a GO patient.
|
28807865 |
2017 |
Geroderma osteodysplastica
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Two GORAB missense mutations identified in gerodermia osteodysplastica patients fall within this IGRAB domain.
|
26000619 |
2015 |
Geroderma osteodysplastica
|
0.770 |
Biomarker
|
disease |
BEFREE |
Our study, therefore, supplements the limited available data on SCYL1BP1 and further establishes deficiency of this recently described golgin as the only known cause of GO.
|
19681135 |
2009 |
Geroderma osteodysplastica
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Here we demonstrate that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts.
|
18997784 |
2008 |
Geroderma osteodysplastica
|
0.770 |
Biomarker
|
disease |
BEFREE |
Our results therefore identify GORAB as a COPI scaffolding factor, and support the view that defective protein glycosylation is a major disease mechanism in gerodermia osteodysplastica.
|
30631079 |
2019 |
Geroderma osteodysplastica
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Although the disease resulting from recessive mutations in that gene has been recently designated ARCL2B, some clinical features, such as prognathism, elongated and lax face, osteopenia and limitation of skin wrinkling to the dorsum of hands and feet, in the patients reported here as well as in others reported with PYCR1 mutations, are generally more common in geroderma osteodysplasticum resulting from recessive GORAB mutations.
|
21204221 |
2011 |
Geroderma osteodysplastica
|
0.770 |
Biomarker
|
disease |
BEFREE |
A conditional mouse model of GO (Gorab<sup>Prx1</sup>) was generated in which the Gorab gene was deleted in long bones.
|
29108851 |
2017 |
Geroderma osteodysplastica
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Here we demonstrate that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts.
|
18997784 |
2008 |
Geroderma osteodysplastica
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Geroderma osteodysplastica
|
0.770 |
Biomarker
|
disease |
CTD_human |
Here we demonstrate that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts.
|
18997784 |
2008 |
Geroderma osteodysplastica
|
0.770 |
GermlineCausalMutation
|
disease |
ORPHANET |
Here we demonstrate that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts.
|
18997784 |
2008 |
Geroderma osteodysplastica
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Two GORAB missense mutations identified in gerodermia osteodysplastica patients fall within this IGRAB domain.
|
26000619 |
2015 |
Geroderma osteodysplastica
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Geroderma osteodysplastica
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Our study, therefore, supplements the limited available data on SCYL1BP1 and further establishes deficiency of this recently described golgin as the only known cause of GO.
|
19681135 |
2009 |
Geroderma osteodysplastica
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Here we demonstrate that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts.
|
18997784 |
2008 |