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1993 1
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Page 1
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 Free article.
AT-hook DNA-binding motif-containing protein 1 (AHDC1) is a causal gene of intellectual disability/developmental delay in humans. The biological role of AHDC1 is unclear. Recently, some clues from AHDC1 mutation carriers hinted that AHDC1 may participa …
AT-hook DNA-binding motif-containing protein 1 (AHDC1) is a causal gene of intellectual disability/developmental delay in humans. The …
Molecular features of AHDC1: insights into an overlooked gene with broad functional potential.
Bochicchio S, Mazzetti A, Graziani L, Tartaglia GG, Gustincich S, Sanges R. Bochicchio S, et al. Hum Genet. 2025 Oct;144(9-10):901-916. doi: 10.1007/s00439-025-02765-7. Epub 2025 Aug 22. Hum Genet. 2025. PMID: 40844525 Free PMC article. Review.
However, interest in AHDC1 has grown significantly recently as researchers have strived to uncover the mechanisms underlying XIGIS-associated phenotypes. Recognizing these advances, the Pharos database reclassified AHDC1 as a Tbio gene in 2023, acknowledging its ris …
However, interest in AHDC1 has grown significantly recently as researchers have strived to uncover the mechanisms underlying XIGIS-as …
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. Mo …
Xia-Gibbs syndrome (XGS; MIM: 615829) is a phenotypically heterogeneous neurodevelopmental disorder (NDD) caused by newly arising mutations …
Xia-Gibbs Syndrome.
Chander V, Wangler M, Gibbs R, Murdock D. Chander V, et al. 2021 Dec 9. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2021 Dec 9. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 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.
XGS is defined by monoallelic pathogenic variants in AHDC1. In this study, we identified a Brazilian patient carrying a likely de novo AHDC1 nonsense mutation (c.451C>T; p.Arg151*) which was absent in both parents. ...
XGS is defined by monoallelic pathogenic variants in AHDC1. In this study, we identified a Brazilian patient carrying a likely de nov …
De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome.
Bertrand M, Shah G, Pedersen BS, Schulz A, Weise A, Liehr T, Huppke P, DiTroia S, Quinlan AR, Haack TB, Husain RA. Bertrand M, et al. Mol Syndromol. 2024 Oct;15(5):389-397. doi: 10.1159/000538918. Epub 2024 May 20. Mol Syndromol. 2024. PMID: 39359946 Free PMC article.
In the first patient, a de novo interstitial deletion in 1p36.11p35.3 encompassing the entire coding region of AHDC1 was initially suspected by trio exome sequencing and subsequently confirmed by shallow genome sequencing. In the second patient, a de novo deletion comprisi …
In the first patient, a de novo interstitial deletion in 1p36.11p35.3 encompassing the entire coding region of AHDC1 was initially su …
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.
Mutations of AT-hook DNA-binding motif containing 1 (AHDC1) gene have been implicated which could cause rare syndromes presenting OSA. This study aims to investigate some rare mutations of AHDC1 in Chinese Han individuals with OSA. ...The effect of mutations was val …
Mutations of AT-hook DNA-binding motif containing 1 (AHDC1) gene have been implicated which could cause rare syndromes presenting OSA …
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, …
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 …
60 results