These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities. Quintana AM; Yu HC; Brebner A; Pupavac M; Geiger EA; Watson A; Castro VL; Cheung W; Chen SH; Watkins D; Pastinen T; Skovby F; Appel B; Rosenblatt DS; Shaikh TH Hum Mol Genet; 2017 Aug; 26(15):2838-2849. PubMed ID: 28449119 [TBL] [Abstract][Full Text] [Related]
4. Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression. Quintana AM; Geiger EA; Achilly N; Rosenblatt DS; Maclean KN; Stabler SP; Artinger KB; Appel B; Shaikh TH Dev Biol; 2014 Dec; 396(1):94-106. PubMed ID: 25281006 [TBL] [Abstract][Full Text] [Related]
5. Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients. Wongkittichote P; Wegner DJ; Shinawi MS J Hum Genet; 2021 Jul; 66(7):717-724. PubMed ID: 33517344 [TBL] [Abstract][Full Text] [Related]
6. Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression. Hollstein R; Reiz B; Kötter L; Richter A; Schaake S; Lohmann K; Kaiser FJ Hum Mol Genet; 2017 Aug; 26(15):2975-2983. PubMed ID: 28486698 [TBL] [Abstract][Full Text] [Related]
7. Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder. Gérard M; Morin G; Bourillon A; Colson C; Mathieu S; Rabier D; Billette de Villemeur T; Ogier de Baulny H; Benoist JF Eur J Med Genet; 2015 Mar; 58(3):148-53. PubMed ID: 25595573 [TBL] [Abstract][Full Text] [Related]
8. Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families. Hussain SI; Muhammad N; Shah SA; Rehman AU; Khan SA; Saleha S; Khan YM; Muhammad N; Khan S; Wasif N BMC Med Genomics; 2024 Jul; 17(1):176. PubMed ID: 38956580 [TBL] [Abstract][Full Text] [Related]
9. A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. Huang L; Jolly LA; Willis-Owen S; Gardner A; Kumar R; Douglas E; Shoubridge C; Wieczorek D; Tzschach A; Cohen M; Hackett A; Field M; Froyen G; Hu H; Haas SA; Ropers HH; Kalscheuer VM; Corbett MA; Gecz J Am J Hum Genet; 2012 Oct; 91(4):694-702. PubMed ID: 23000143 [TBL] [Abstract][Full Text] [Related]
10. The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth. Jolly LA; Homan CC; Jacob R; Barry S; Gecz J Hum Mol Genet; 2013 Dec; 22(23):4673-87. PubMed ID: 23821644 [TBL] [Abstract][Full Text] [Related]
11. Hcfc1a regulates neural precursor proliferation and asxl1 expression in the developing brain. Castro VL; Reyes JF; Reyes-Nava NG; Paz D; Quintana AM BMC Neurosci; 2020 Jun; 21(1):27. PubMed ID: 32522152 [TBL] [Abstract][Full Text] [Related]
12. Compensatory embryonic response to allele-specific inactivation of the murine X-linked gene Hcfc1. Minocha S; Sung TL; Villeneuve D; Lammers F; Herr W Dev Biol; 2016 Apr; 412(1):1-17. PubMed ID: 26921005 [TBL] [Abstract][Full Text] [Related]
13. A critical role of RBM8a in proliferation and differentiation of embryonic neural progenitors. Zou D; McSweeney C; Sebastian A; Reynolds DJ; Dong F; Zhou Y; Deng D; Wang Y; Liu L; Zhu J; Zou J; Shi Y; Albert I; Mao Y Neural Dev; 2015 Jun; 10():18. PubMed ID: 26094033 [TBL] [Abstract][Full Text] [Related]
14. Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy. Chern T; Achilleos A; Tong X; Hill MC; Saltzman AB; Reineke LC; Chaudhury A; Dasgupta SK; Redhead Y; Watkins D; Neilson JR; Thiagarajan P; Green JBA; Malovannaya A; Martin JF; Rosenblatt DS; Poché RA Nat Commun; 2022 Jan; 13(1):134. PubMed ID: 35013307 [TBL] [Abstract][Full Text] [Related]
15. HCFC1 variants in the proteolysis domain are associated with X-linked idiopathic partial epilepsy: Exploring the underlying mechanism. He N; Guan BZ; Wang J; Liu HK; Mao Y; Liu ZG; Yin F; Peng J; Xiao B; Tang BS; Zhou D; Huang G; Dai QL; Zeng Y; Han H; Zhai QX; Li B; Tang B; Li WB; Song W; Liu L; Shi YW; Li BM; Su T; Zhou P; Liu XR; Guo LW; Yi YH; Liao WP Clin Transl Med; 2023 Jun; 13(6):e1289. PubMed ID: 37264743 [TBL] [Abstract][Full Text] [Related]
16. Rapid Recapitulation of Nonalcoholic Steatohepatitis upon Loss of Host Cell Factor 1 Function in Mouse Hepatocytes. Minocha S; Villeneuve D; Praz V; Moret C; Lopes M; Pinatel D; Rib L; Guex N; Herr W Mol Cell Biol; 2019 Feb; 39(5):. PubMed ID: 30559308 [TBL] [Abstract][Full Text] [Related]