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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 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 …
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 …
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 …
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, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2021 Dec 9. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 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 …
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 …
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 Free article.
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 …
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 …
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 …
Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the Literature.
Baga M, Ivanovski I, Contrò G, Caraffi SG, Spagnoli C, Cesaroni CA, Neri A, Peluso F, Pollazzon M, Garavelli L, Fusco C. Baga M, et al. Mol Syndromol. 2024 Feb;15(1):63-70. doi: 10.1159/000530410. Epub 2023 Sep 8. Mol Syndromol. 2024. PMID: 38357260 Free PMC article.
INTRODUCTION: Xia-Gibbs syndrome (OMIM 615829) is a rare developmental disorder, caused by heterozygous de novo variants in the AHDC1 gene. Hallmark features include global developmental delay, facial dysmorphisms, and behavioral problems. ...
INTRODUCTION: Xia-Gibbs syndrome (OMIM 615829) is a rare developmental disorder, caused by heterozygous de novo variants in the AHDC1
52 results