Ask about this productRelated genes to: FGD1 antibody
- Gene:
- FGD1 NIH gene
- Name:
- FYVE, RhoGEF and PH domain containing 1
- Previous symbol:
- FGDY
- Synonyms:
- ZFYVE3
- Chromosome:
- Xp11.22
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2016-10-05
Related products to: FGD1 antibody
Related articles to: FGD1 antibody
- The epidermis is a stratified epithelium in which keratinocytes differentiate as they move from basal to suprabasal layers, a process during which tissue integrity relies on the coordinated remodeling of intercellular junctions and the cytoskeleton. Unlike simple epithelia, which form a continuous zonula adherens, suprabasal cells in the epidermis lack a canonical junction belt, with E-cadherin-based junctions distributed across the entire cell surface, highlighting distinct regulatory mechanisms that remain poorly understood. Here, we identify the CDC42 guanine nucleotide exchange factor FGD1, mutated in Aarskog-Scott syndrome, as a regulator of suprabasal junction architecture. Using stratified human keratinocytes and quantitative imaging, we show that loss of FGD1 induces elongated radial actin bundles and tortuous, tension-associated adherens junctions resembling the stress fiber-anchored discontinuous (focal) adherens junctions described in endothelial cells. These defects are accompanied by altered tissue mechanics. Inhibition of ROCK or myosin II restores junction organization, demonstrating that FGD1 restrains actomyosin contractility to promote suprabasal junction maturation. Several disease-associated FGD1 variants fail to rescue these defects. Together, our findings identify FGD1 as a regulator of suprabasal junction maturation. - Source: PubMed
Publication date: 2026/08/06
Hotea Diana IJetté AlexandraBeaudin AmyLauzon MaitéKalyanakrishnan KrithikaLaurin Mélanie - The interpretation of genetic variants' association (or not) with phenotypic resistance to newly introduced and repurposed antituberculosis drugs remains challenging, as many mutations detected by whole-genome sequencing (WGS) are classified as of uncertain significance (group 3) or not associated with resistance-interim (group 4) by the World Health Organization (WHO) mutation catalog v2. We evaluated the phenotypic impact of such variants on minimum inhibitory concentrations (MICs) for bedaquiline (BDQ), clofazimine (CFZ), delamanid (DLM), and pretomanid (PA) in complex isolates from the multi-country DIAMA cohort in sub-Saharan Africa (SSA), which recruited RR/RS-TB patients naïve to these drugs. Among 1,475 isolates with available WGS data, 163 variants met eligibility criteria; due to viable strain unavailability, 89 isolates carrying 29 unique BDQ/CFZ-related and 60 unique DLM/PA-related variants were tested for MIC determination using broth microdilution. Additional structural modeling was performed to explore potential effects of amino-acid substitutions on protein stability. Among BDQ/CFZ-related variants, MICs above the critical concentrations (CCs) were consistently associated with variants, whereas variants in , , and were not. DLM/PA variants ( and ) were frequently detected as non-fixed populations, yet rarely yielding MIC values above the CC. Predicted structural destabilization showed no consistent association with MIC values or variant fixation status. Under the conditions tested, phenotypic resistance was not detected for most group 3 and 4 variants detected by WGS. Our data provide evidence from SSA to support improved interpretation of resistance-associated mutations for new and repurposed antituberculosis drugs.IMPORTANCEWhole-genome sequencing increasingly detects mutations classified by the World Health Organization (WHO) mutation catalog v2 as group 3 variants of uncertain significance or group 4 variants not associated with resistance-interim, limiting reliable prediction of resistance to new and repurposed antituberculosis drugs. By generating minimum inhibitory concentration (MIC) data for such variants identified in a multi-country sub-Saharan African cohort, this study provides phenotypic evidence to support future refinement and expansion of the WHO mutation catalog v2. Notably, variants associated with elevated bedaquiline/clofazimine MICs were identified in eight isolates, suggesting that some patients in this cohort may have harbored pre-existing resistance-associated variants yet remained potentially eligible for bedaquiline-containing regimens. These findings contribute to improving the interpretation of genomic resistance data and strengthening surveillance of resistance to bedaquiline, clofazimine, delamanid, and pretomanid. - Source: PubMed
Publication date: 2026/07/28
Massou FaridathDewaele KlaasGnamy AndersonBalde RamataMulders WimMehan Conor Jde Jong Bouke CAffolabi DissouTzfadia OrenRigouts Leen - Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by resistance to adrenocorticotropic hormone (ACTH), leading to isolated glucocorticoid deficiency. This study aims to identify the genetic basis of FGD in a Chinese patient and investigate the functional consequences of the detected MC2R mutations. - Source: PubMed
Zhen NiTao YonghuiLi ChuanyinLu Wenli - The success of modern drug-resistant tuberculosis (DR-TB) regimens increasingly depends on linezolid (LZD) and pretomanid (Pa), yet the emergence of resistance to these critical agents threatens to reverse recent treatment advances, with limited consolidated evidence available from high-burden settings such as South Africa. - Source: PubMed
Publication date: 2026/05/28
Kaapu Kabelo GabrielMakondo Vukosi TreasureCosta Conceição EmilynRukasha Ivy - Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by isolated cortisol deficiency and elevated adrenocorticotropic hormone (ACTH) levels. Variants in , which encodes mitochondrial thioredoxin reductase 2, have recently been implicated in FGD; however, the phenotypic and mutational spectrum remain extremely limited. - Source: PubMed
Publication date: 2026/05/28
Al Alwan IbrahimAlhamoudi Kheloud MAlzaben Abdullah IbrahimAlmulhem BeshaierQawasmi NawalAlswailem MeshaelAlotaibi SaraAlsaihati BurairJabaan AmjadMahzari MoeberFlück Christa EAlzahrani Ali S