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232 results

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Page 1
OFD1: One gene, several disorders.
Pezzella N, Bove G, Tammaro R, Franco B. Pezzella N, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):57-71. doi: 10.1002/ajmg.c.31962. Epub 2022 Feb 2. Am J Med Genet C Semin Med Genet. 2022. PMID: 35112477 Free PMC article. Review.
The OFD1 protein is necessary for the formation of primary cilia and left-right asymmetry establishment but additional functions have also been ascribed to this multitask protein. ...The extensive spectrum of clinical manifestations observed in OFD1-mutated patients …
The OFD1 protein is necessary for the formation of primary cilia and left-right asymmetry establishment but additional functions have …
Proteome balance in ciliopathies: the OFD1 protein example.
Morleo M, Pezzella N, Franco B. Morleo M, et al. Trends Mol Med. 2023 Mar;29(3):201-217. doi: 10.1016/j.molmed.2022.11.007. Epub 2022 Dec 6. Trends Mol Med. 2023. PMID: 36494254 Review.
Here, we discuss recent discoveries regarding the role in the balance of the proteome of centrosomal/ciliary proteins associated with genetic disorders known as ciliopathies. In particular, OFD1 was the first example of a ciliopathy protein controlling both protein express …
Here, we discuss recent discoveries regarding the role in the balance of the proteome of centrosomal/ciliary proteins associated with geneti …
The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.
Hannah WB, DeBrosse S, Kinghorn B, Strausbaugh S, Aitken ML, Rosenfeld M, Wolf WE, Knowles MR, Zariwala MA. Hannah WB, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e911. doi: 10.1002/mgg3.911. Epub 2019 Aug 1. Mol Genet Genomic Med. 2019. PMID: 31373179 Free PMC article. Review.
In addition, we provide a review of the available clinical literature describing patients with OFD1 variants and highlight the phenotypic variability of OFD1-related disease. RESULTS: Some individuals with hemizygous OFD1 variants have PCD, either apparently …
In addition, we provide a review of the available clinical literature describing patients with OFD1 variants and highlight the phenot …
Nonsyndromic Retinitis Pigmentosa Overview.
Fahim AT, Daiger SP, Weleber RG. Fahim AT, et al. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301590 Free Books & Documents. Review.
Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review.
Zhang K, Meng C, Ma J, Gao M, Lv Y, Liu Y, Gai Z. Zhang K, et al. Clin Dysmorphol. 2017 Jul;26(3):135-141. doi: 10.1097/MCD.0000000000000183. Clin Dysmorphol. 2017. PMID: 28505061 Review.
So far, over 20 causative genes have been identified, but only one gene (OFD1) results in X-linked Joubert syndrome 10 (JBTS10). Six mutations in the OFD1 gene have been found to cause JBTS10. ...The de-novo OFD1 mutation in exon 21 leads to a frameshift muta …
So far, over 20 causative genes have been identified, but only one gene (OFD1) results in X-linked Joubert syndrome 10 (JBTS10). Six …
Joubert Syndrome.
Parisi M, Glass I. Parisi M, et al. 2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301500 Free Books & Documents. Review.
GENETIC COUNSELING: JS is predominantly inherited in an autosomal recessive manner. JS caused by pathogenic variants in OFD1 is inherited in an X-linked manner. Digenic inheritance has been reported. For autosomal recessive inheritance: at conception, each sib of an affect …
GENETIC COUNSELING: JS is predominantly inherited in an autosomal recessive manner. JS caused by pathogenic variants in OFD1 is inher …
The role of OFD1 in selective autophagy.
Franco B, Morleo M. Franco B, et al. Mol Cell Oncol. 2021 Mar 31;8(3):1903291. doi: 10.1080/23723556.2021.1903291. eCollection 2021. Mol Cell Oncol. 2021. PMID: 34027042 Free PMC article.
Our study unveiled a novel mechanism mediated by OFD1, the protein mutated in Oral-Facial-Digital type I syndrome, based on selective degradation of autophagic proteins, which enables cells to calibrate their self-degradation. We demonstrated that unrestrained autophagy co …
Our study unveiled a novel mechanism mediated by OFD1, the protein mutated in Oral-Facial-Digital type I syndrome, based on selective …
OFD1, as a Ciliary Protein, Exhibits Neuroprotective Function in Photoreceptor Degeneration Models.
Wang J, Chen X, Wang F, Zhang J, Li P, Li Z, Xu J, Gao F, Jin C, Tian H, Zhang J, Li W, Lu L, Xu GT. Wang J, et al. PLoS One. 2016 May 19;11(5):e0155860. doi: 10.1371/journal.pone.0155860. eCollection 2016. PLoS One. 2016. PMID: 27196396 Free PMC article.
Furthermore, pEGFP-Ofd1-CDS and pSUPER-Ofd1-shRNA were constructed to overexpress and knockdown the expression level in 661W and R28 cells. ...These data have expanded our understanding of Ofd1 function beyond cilia, and we concluded that ofd1 neuropro …
Furthermore, pEGFP-Ofd1-CDS and pSUPER-Ofd1-shRNA were constructed to overexpress and knockdown the expression level in 661W a …
Extraciliary OFD1 Is Involved in Melanocyte Survival through Cell Adhesion to ECM via Paxillin.
Kim NH, Lee CH, Lee AY. Kim NH, et al. Int J Mol Sci. 2023 Dec 15;24(24):17528. doi: 10.3390/ijms242417528. Int J Mol Sci. 2023. PMID: 38139355 Free PMC article.
The OFD1 amino acid residues 601-1012 interacted with paxillin, while the amino acid residues 1-601 were associated with ciliogenesis, suggesting that the OFD1 domains responsible for paxillin binding are distinct from those involved in ciliogenesis. OFD1 kno …
The OFD1 amino acid residues 601-1012 interacted with paxillin, while the amino acid residues 1-601 were associated with ciliogenesis …
Ofd1, a human disease gene, regulates the length and distal structure of centrioles.
Singla V, Romaguera-Ros M, Garcia-Verdugo JM, Reiter JF. Singla V, et al. Dev Cell. 2010 Mar 16;18(3):410-24. doi: 10.1016/j.devcel.2009.12.022. Dev Cell. 2010. PMID: 20230748 Free PMC article.
Here, we show that the gene underlying orofaciodigital syndrome 1, Ofd1, is a component of the distal centriole that controls centriole length. In the absence of Ofd1, distal regions of centrioles, but not procentrioles, elongate abnormally. ...To model OFD1
Here, we show that the gene underlying orofaciodigital syndrome 1, Ofd1, is a component of the distal centriole that controls centrio …
232 results