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GLUCOCORTICOID DEFICIENCY 1

Known as: FGD1, ADRENAL UNRESPONSIVENESS TO ACTH, ACTH Resistance 
National Institutes of Health

Related topics

Related topics

9 relations

Broader (2)

Adrenal gland hypofunctionSteroid Metabolism, Inborn Errors
Autosomal recessive inheritanceComatoseFailure to ThriveHyperpigmentation

Papers overview

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Review
2017
Review
2017
Towards attaining equity and satisfaction in water allocation mechanism for irrigated agriculture in Northern Nigeria
Mechanism for water allocation in the irrigated agriculture has been subject of conflict and challenges in sub-Sahara Africa (SSA… 
2016
2016
A novel FGD1 mutation in a family with Aarskog–Scott syndrome and predominant features of congenital joint contractures
Mutations in FGD1 cause Aarskog–Scott syndrome (AAS), an X-linked condition characterized by abnormal facial, skeletal, and… 
Review
2016
Review
2016
Minireview : Role of Genetic Changes of Faciogenital 1 Dysplasia Protein 1 in Human Disease 2 3
3 Running Title: FGD1 in Human Disease 4 5 
2014
2014
No association between FGD1 gene polymorphisms and intellectual developmental disability in the Qinba mountain area.
FGD1 encoding a guanine nucleotide exchange factor, specifically activates Rho GTPase cell division cycle 42 (Cdc42). Dysfunction… 
2013
2013
PI5P migrates out of the PIP shadow
In a recent study published in EMBO reports, the group of Jorgen Wesche identified a new role for PI5P as a positive regulator of… 
2012
2012
Comparison of the Neutrophil Proteome in Trauma Patients and Normal Controls
Background: Neutrophils have an impressive array of microbicidal weapons, and in the presence of a pathogen, progress from a… 
2010
2010
Proline-rich domain plays a crucial role in extracellular stimuli-responsive translocation of a Cdc42 guanine nucleotide exchange factor, FGD1.
We previously demonstrated that FGD1, the Cdc42 guanine nucleotide exchange factor (GEF) responsible for faciogenital dysplasia… 
Highly Cited
2009
Highly Cited
2009
Faciogenital dysplasia protein (FGD1) regulates export of cargo proteins from the golgi complex via Cdc42 activation.
Mutations in the FGD1 gene are responsible for the X-linked disorder known as faciogenital dysplasia (FGDY). FGD1 encodes a… 
2005
2005
The FWD1/β‐TrCP‐mediated degradation pathway establishes a ‘turning off switch’ of a Cdc42 guanine nucleotide exchange factor, FGD1
FWD1/β‐TrCP is the F‐box protein that functions as the receptor subunit of the SCFFWD1/β‐TrCP ubiquitin ligase and has been shown… 
1999
1999
Isolation, characterization, and mapping of the mouse and human Fgd2 genes, faciogenital dysplasia (FGD1; Aarskog syndrome) gene homologues.
FGD1 encodes a guanine nucleotide exchange factor (GEF) that specifically activates the Rho GTPase Cdc42. FGD1 gene mutations… 
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