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Ahdc1 is a potent regulator of obesity and energy metabolism.
Li L, Shao S, Wang Y, Du Z, Yu H, Li F, Qin Y. Li L, et al. Am J Physiol Endocrinol Metab. 2023 Nov 1;325(5):E638-E648. doi: 10.1152/ajpendo.00048.2023. Epub 2023 Oct 11. Am J Physiol Endocrinol Metab. 2023. PMID: 37819197
The biological role of AHDC1 is unclear. Recently, some clues from AHDC1 mutation carriers hinted that AHDC1 may participate in body-weight regulation. ...Our findings show that Ahdc1 is a novel key regulator of obesity and energy metabolism, which pro …
The biological role of AHDC1 is unclear. Recently, some clues from AHDC1 mutation carriers hinted that AHDC1 may partic …
AHDC1 missense mutations in Xia-Gibbs syndrome.
Khayat MM, Hu J, Jiang Y, Li H, Chander V, Dawood M, Hansen AW, Li S, Friedman J, Cross L, Bijlsma EK, Ruivenkamp CAL, Sansbury FH, Innis JW, O'Shea JO, Meng Q, Rosenfeld JA, McWalter K, Wangler MF, Lupski JR, Posey JE, Murdock D, Gibbs RA. Khayat MM, et al. HGG Adv. 2021 Oct 14;2(4):100049. doi: 10.1016/j.xhgg.2021.100049. Epub 2021 Aug 10. HGG Adv. 2021. PMID: 34950897 Free PMC article.
Xia-Gibbs syndrome (XGS; MIM: 615829) is a phenotypically heterogeneous neurodevelopmental disorder (NDD) caused by newly arising mutations in the AT-Hook DNA-Binding Motif-Containing 1 (AHDC1) gene that are predicted to lead to truncated AHDC1 protein synthesis. .. …
Xia-Gibbs syndrome (XGS; MIM: 615829) is a phenotypically heterogeneous neurodevelopmental disorder (NDD) caused by newly arising mutations …
Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome.
Carvalho LML, Branco EV, Sarafian RD, Kobayashi GS, de Araújo FT, Santos Souza L, Moreira DP, Hsia GSP, Bertollo EMG, Buck CB, da Costa SS, Fialho DM, de Vasconcelos FTGR, Brito LA, de Souza Fraga Machado LE, Ramos IC, Pereira LDV, Koiffmann CP, E Passos-Bueno MRDS, Oliveira Mendes TA, Krepischi ACV, Rosenberg C. Carvalho LML, et al. Gene. 2023 Jun 30;871:147424. doi: 10.1016/j.gene.2023.147424. Epub 2023 Apr 11. Gene. 2023. PMID: 37054903
Xia-Gibbs syndrome (XGS) is a syndromic form of intellectual disability caused by heterozygous AHDC1 variants, but the pathophysiological mechanisms underlying this syndrome are still unclear. In this manuscript, we describe the development of two different functional mode …
Xia-Gibbs syndrome (XGS) is a syndromic form of intellectual disability caused by heterozygous AHDC1 variants, but the pathophysiolog …
Xia-Gibbs Syndrome.
Chander V, Wangler M, Gibbs R, Murdock D. Chander V, et al. 2021 Dec 9. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2021 Dec 9. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 34902026 Free Books & Documents. Review.
GENETIC COUNSELING: XGS is an autosomal dominant disorder typically caused by a de novo pathogenic truncating variant in AHDC1. The risk to other family members is presumed to be low, but parental testing should be done when possible to confirm that the variant is de novo. …
GENETIC COUNSELING: XGS is an autosomal dominant disorder typically caused by a de novo pathogenic truncating variant in AHDC1. The r …
Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome.
Cardoso-Dos-Santos AC, Oliveira Silva T, Silveira Faccini A, Woycinck Kowalski T, Bertoli-Avella A, Morales Saute JA, Schuler-Faccini L, de Oliveira Poswar F. Cardoso-Dos-Santos AC, et al. Mol Syndromol. 2020 Feb;11(1):24-29. doi: 10.1159/000505843. Epub 2020 Feb 1. Mol Syndromol. 2020. PMID: 32256298 Free PMC article.
Xia-Gibbs syndrome (XGS) is a rare neurological disorder characterized by global developmental delay, hypotonia, intellectual disability, seizures, and sleep apnea. XGS is defined by monoallelic pathogenic variants in AHDC1. In this study, we identified a Brazilian patient …
Xia-Gibbs syndrome (XGS) is a rare neurological disorder characterized by global developmental delay, hypotonia, intellectual disability, se …
Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea.
Yang S, Li K, Zhu MM, Yuan XD, Jiao XL, Yang YY, Li J, Li L, Zhang HN, Du YH, Wei YX, Qin YW. Yang S, et al. Biomed Res Int. 2019 Oct 13;2019:5907361. doi: 10.1155/2019/5907361. eCollection 2019. Biomed Res Int. 2019. PMID: 31737670 Free PMC article.
The effect of mutations was validated by the luciferase reporter assay. RESULTS: One rare missense mutation (AHDC1: p.G1484D) and two mutations (c.-88C>T; c.-781C>G) in 5'-untranslated region (UTR) of AHDC1 were identified. The rare mutation (c.-781C>G) in …
The effect of mutations was validated by the luciferase reporter assay. RESULTS: One rare missense mutation (AHDC1: p.G1484D) and two …
Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder.
Wang Q, Huang X, Liu Y, Peng Q, Zhang Y, Liu J, Yuan H. Wang Q, et al. Eur J Med Genet. 2020 Jan;63(1):103611. doi: 10.1016/j.ejmg.2019.01.001. Epub 2019 Jan 4. Eur J Med Genet. 2020. PMID: 30615951
At present, Xia-Gibbs syndrome has been reported to be mainly caused by truncating mutations in AHDC1 gene located on chromosome 1p36.11. However, the evidence supporting AHDC1 deletion as a cause of this syndrome is still limited. ...Therefore, we provide further s …
At present, Xia-Gibbs syndrome has been reported to be mainly caused by truncating mutations in AHDC1 gene located on chromosome 1p36 …
Different epilepsy course of a novel AHDC1 mutation in a female monozygotic twin pair.
Salvati A, Biagioni T, Ferrari AR, Lopergolo D, Brovedani P, Bartolini E. Salvati A, et al. Seizure. 2022 Jul;99:127-130. doi: 10.1016/j.seizure.2022.05.020. Epub 2022 May 26. Seizure. 2022. PMID: 35636160 Free article.
PURPOSE: De novo truncating mutations of AHDC1 gene cause Xia-Gibbs Syndrome (XGS), characterized by developmental delay, hypotonia, speech disturbances, sleep apnea. ...CONCLUSION: Our findings suggest that patients with Xia-Gibbs Syndrome may exhibit Lennox-Gastaut-like …
PURPOSE: De novo truncating mutations of AHDC1 gene cause Xia-Gibbs Syndrome (XGS), characterized by developmental delay, hypotonia, …
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.
Chander V, Mahmoud M, Hu J, Dardas Z, Grochowski CM, Dawood M, Khayat MM, Li H, Li S, Jhangiani S, Korchina V, Shen H, Weissenberger G, Meng Q, Gingras MC, Muzny DM, Doddapaneni H, Posey JE, Lupski JR, Sabo A, Murdock DR, Sedlazeck FJ, Gibbs RA. Chander V, et al. Hum Mutat. 2022 Dec;43(12):2033-2053. doi: 10.1002/humu.24461. Epub 2022 Sep 24. Hum Mutat. 2022. PMID: 36054313 Free PMC article.
We analyzed 19 individuals with large contiguous deletions involving AHDC1, along with other genes. One individual bore the smallest known contiguous AHDC1 deletion (350 Kb), encompassing eight other genes within chr1p36.11 (Feline Gardner-Rasheed, IFI6, FAM76A, STX …
We analyzed 19 individuals with large contiguous deletions involving AHDC1, along with other genes. One individual bore the smallest …
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
Khayat MM, Li H, Chander V, Hu J, Hansen AW, Li S, Traynelis J, Shen H, Weissenberger G, Stossi F, Johnson HL, Lupski JR, Posey JE, Sabo A, Meng Q, Murdock DR, Wangler M, Gibbs RA. Khayat MM, et al. Hum Mutat. 2021 May;42(5):577-591. doi: 10.1002/humu.24190. Epub 2021 Mar 6. Hum Mutat. 2021. PMID: 33644933 Free PMC article.
Xia-Gibbs syndrome (XGS) is a rare Mendelian disease typically caused by de novo stop-gain or frameshift mutations in the AT-hook DNA binding motif containing 1 (AHDC1) gene. Patients usually present in early infancy with hypotonia and developmental delay and later exhibit …
Xia-Gibbs syndrome (XGS) is a rare Mendelian disease typically caused by de novo stop-gain or frameshift mutations in the AT-hook DNA bindin …
48 results