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1993 1
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Page 1
Cranioectodermal Dysplasia.
Tan W, Lin A, Keppler-Noreuil K. Tan W, et al. 2013 Sep 12 [updated 2022 Dec 15]. 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. 2013 Sep 12 [updated 2022 Dec 15]. 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: 24027799 Free Books & Documents. Review.
., involvement of the teeth, hair, or nails) and/or by identification of biallelic pathogenic variants in one of the six genes currently known to be associated with CED: IFT43, IFT52, IFT122, IFT140, WDR19, or WDR35. ...
., involvement of the teeth, hair, or nails) and/or by identification of biallelic pathogenic variants in one of the six genes curren …
A mutation in IFT43 causes non-syndromic recessive retinal degeneration.
Biswas P, Duncan JL, Ali M, Matsui H, Naeem MA, Raghavendra PB, Frazer KA, Arts HH, Riazuddin S, Akram J, Hejtmancik JF, Riazuddin SA, Ayyagari R. Biswas P, et al. Hum Mol Genet. 2017 Dec 1;26(23):4741-4751. doi: 10.1093/hmg/ddx356. Hum Mol Genet. 2017. PMID: 28973684 Free PMC article.
Effect of the variant observed in the gene Intraflagellar Transport Protein 43 (IFT43) was studied by heterologous expression in mIMCD3 and MDCK cells. ...The cilia in mIMCD3 and MDCK cells expressing mutant IFT43 were found to be significantly shorter (P &lt …
Effect of the variant observed in the gene Intraflagellar Transport Protein 43 (IFT43) was studied by heterologous expression …
Control elements targeting Tgfb3 expression to the palatal epithelium are located intergenically and in introns of the upstream Ift43 gene.
Lane J, Yumoto K, Pisano J, Azhar M, Thomas PS, Kaartinen V. Lane J, et al. Front Physiol. 2014 Jul 7;5:258. doi: 10.3389/fphys.2014.00258. eCollection 2014. Front Physiol. 2014. PMID: 25071603 Free PMC article.
Our results show that a 61-kb genomic fragment encompassing the Tgfb3 gene drives remarkably specific reporter expression in the MEE and adjacent periderm. Within this fragment, we identified two small, non-coding, evolutionarily conserved regions in intron 2 of the neighb …
Our results show that a 61-kb genomic fragment encompassing the Tgfb3 gene drives remarkably specific reporter expression in the MEE …
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
Duran I, Taylor SP, Zhang W, Martin J, Qureshi F, Jacques SM, Wallerstein R, Lachman RS, Nickerson DA, Bamshad M, Cohn DH, Krakow D. Duran I, et al. Cilia. 2017 Apr 10;6:7. doi: 10.1186/s13630-017-0051-y. eCollection 2017. Cilia. 2017. PMID: 28400947 Free PMC article.
We further show that the IFT43 SRPS phenotype is similar to SRPS resulting from mutations in the gene encoding IFT121 (WDR35), a direct interactor with IFT43. ...Phenotypic similarities with SRPS cases resulting from mutations in the gene encoding the …
We further show that the IFT43 SRPS phenotype is similar to SRPS resulting from mutations in the gene encoding IFT121 (WDR35), …
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R. Arts HH, et al. J Med Genet. 2011 Jun;48(6):390-5. doi: 10.1136/jmg.2011.088864. Epub 2011 Mar 4. J Med Genet. 2011. PMID: 21378380
BACKGROUND: Sensenbrenner syndrome is a heterogeneous ciliopathy that is characterised by skeletal and ectodermal anomalies, accompanied by chronic renal failure, heart defects, liver fibrosis and other features. OBJECTIVE: To identify an additional causative gene in Sense …
BACKGROUND: Sensenbrenner syndrome is a heterogeneous ciliopathy that is characterised by skeletal and ectodermal anomalies, accompanied by …
Ciliary disorder of the skeleton.
Huber C, Cormier-Daire V. Huber C, et al. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):165-74. doi: 10.1002/ajmg.c.31336. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791528 Review.
Mutations have been identified in dynein motor (DYNC2H1), in intraflagellar transport (IFT) complexes (IFT80, IFT122, IFT43, WDR35, WDR19, and TTC21B) as well as in genes responsible for the basal body (NEK1, EVC, and EVC2). The wide clinical variability observed fo …
Mutations have been identified in dynein motor (DYNC2H1), in intraflagellar transport (IFT) complexes (IFT80, IFT122, IFT43, WDR35, W …
De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.
Stokman MF, Oud MM, van Binsbergen E, Slaats GG, Nicolaou N, Renkema KY, Nijman IJ, Roepman R, Giles RH, Arts HH, Knoers NV, van Haelst MM. Stokman MF, et al. Am J Med Genet A. 2016 Jun;170(6):1566-9. doi: 10.1002/ajmg.a.37598. Epub 2016 Feb 19. Am J Med Genet A. 2016. PMID: 26892345
We performed exome sequencing to examine other causes for the phenotype and queried genes present in the 14q24.2q24.3 microdeletion that are associated with recessive disease for variants in the non-deleted allele. The deleted region contains 65 protein-coding genes …
We performed exome sequencing to examine other causes for the phenotype and queried genes present in the 14q24.2q24.3 microdeletion t …
Canonical Wnt signaling is not required for Tgfb3 expression in the basal medial edge epithelium during palatogenesis.
Saroya GA, Siismets E, Hu M, Panaretos C, Rice A, Reynolds K, Zhou CJ, Kaartinen V. Saroya GA, et al. Front Physiol. 2023 May 12;14:704406. doi: 10.3389/fphys.2023.704406. eCollection 2023. Front Physiol. 2023. PMID: 37250135 Free PMC article.
Our previous study suggested that Tgfb3 expression is controlled via upstream cis-regulatory elements in and around the neighboring Ift43 gene. Another study suggested that the canonical Wnt signaling via ss-Catenin is responsible for the MEE-specific Tgfb3 gene …
Our previous study suggested that Tgfb3 expression is controlled via upstream cis-regulatory elements in and around the neighboring Ift43 …
Subunit interactions and organization of the Chlamydomonas reinhardtii intraflagellar transport complex A proteins.
Behal RH, Miller MS, Qin H, Lucker BF, Jones A, Cole DG. Behal RH, et al. J Biol Chem. 2012 Apr 6;287(15):11689-703. doi: 10.1074/jbc.M111.287102. Epub 2011 Dec 14. J Biol Chem. 2012. PMID: 22170070 Free PMC article.
Using sucrose density gradient centrifugation and antibody pulldowns, we show that all six A subunits are associated in a 16 S complex in both the cell bodies and flagella. A significant fraction of the cell body IFT43, however, exhibits a much slower sedimentation of 2 S …
Using sucrose density gradient centrifugation and antibody pulldowns, we show that all six A subunits are associated in a 16 S complex in bo …
[Clinical features and mutational analysis of a case with Sensenbrenner syndrome].
Jia S, Yang J, He T, Li W, Luo X, Huang Y, Li C. Jia S, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):426-428. doi: 10.3760/cma.j.issn.1003-9406.2018.03.027. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 29896747 Chinese.
Clinically, she has featured short stature, short limbs, brachydactylia, tooth agenesis, and retinal dystrophy, high-degree myopia, and chronic renal failure. Gene sequencing showed that she has carried a homozygous c.1A>G (p.M1V) mutation of the IFT43 gene …
Clinically, she has featured short stature, short limbs, brachydactylia, tooth agenesis, and retinal dystrophy, high-degree myopia, and chro …
27 results