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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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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… 
Highly Cited
2008
Highly Cited
2008
Crystal Structures of F420-dependent Glucose-6-phosphate Dehydrogenase FGD1 Involved in the Activation of the Anti-tuberculosis Drug Candidate PA-824 Reveal the Basis of Coenzyme and Substrate…
The modified flavin coenzyme F420 is found in a restricted number of microorganisms. It is widely distributed in mycobacteria… 
Highly Cited
2007
Highly Cited
2007
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia
Objective  Familial glucocorticoid deficiency type I (FGD1) is a rare form of primary adrenal insufficiency resulting from… 
2006
2006
DEHP, bis(2)-ethylhexyl phthalate, alters gene expression in human cells: possible correlation with initiation of fetal developmental abnormalities
Diethylhexylphthalate (DEHP) is a widely distributed phthalate, to which humans are exposed to due to its variety of commercial… 
Highly Cited
2003
Highly Cited
2003
Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape.
FGD1 mutations result in Faciogenital Dysplasia (FGDY), an X-linked human disease that affects skeletal formation and embryonic… 
Highly Cited
2002
Highly Cited
2002
Non‐syndromic X‐linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene
Three brothers with non‐syndromal X‐linked mental retardation were found to have a novel missense mutation in FGD1, the gene… 
Highly Cited
2001
Highly Cited
2001
Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane.
FGD1, the gene responsible for the inherited disease faciogenital dysplasia, encodes a guanine nucleotide exchange factor (GEF… 
Highly Cited
1998
Highly Cited
1998
CDC42 and FGD1 Cause Distinct Signaling and Transforming Activities
ABSTRACT Activated forms of different Rho family members (CDC42, Rac1, RhoA, RhoB, and RhoG) have been shown to transform NIH 3T3… 
Highly Cited
1998
Highly Cited
1998
Frabin, a Novel FGD1-related Actin Filament-binding Protein Capable of Changing Cell Shape and Activating c-Jun N-terminal Kinase*
We purified from rat brain a novel F-actin-binding protein with a M r of about 105,000 (p105), which was estimated by SDS… 
Highly Cited
1996
Highly Cited
1996
The Faciogenital Dysplasia Gene Product FGD1 Functions as a Cdc42Hs-specific Guanine-Nucleotide Exchange Factor*
The Rho family of small GTP-binding proteins plays important roles in the regulation of actin cytoskeleton organization and cell… 
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