splicing. Nat Struct Mol Biol. 2022 Nov;29(11):1043-1055.[3]Lord J, Baralle D. Splicing in the Diagnosis of Rare Disease: Advances and Challenges. Front Genet. 2021 Jul 1;12:689892.[4]Rubin BY, Anderson SL. IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-...
[3]Lord J, Baralle D. Splicing in the Diagnosis of Rare Disease: Advances and Challenges. Front Genet. 2021 Jul 1;12:689892. [4]Rubin BY, Anderson SL. IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies. Appl Clin Genet. 2017 Dec 15;10:95-103...
[3]Lord J, Baralle D. Splicing in the Diagnosis of Rare Disease: Advances and Challenges. Front Genet. 2021 Jul 1;12:689892. [4]Rubin BY, Anderson SL. IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies. Appl Clin Genet. 2017 Dec 15;10:95-103...
[3]Lord J, Baralle D. Splicing in the Diagnosis of Rare Disease: Advances and Challenges. Front Genet. 2021 Jul 1;12:689892. [4]Rubin BY, Anderson SL. IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies. Appl Clin Genet. 2017 Dec 15;10:95-103...
[3]Lord J, Baralle D. Splicing in the Diagnosis of Rare Disease: Advances and Challenges. Front Genet. 2021 Jul 1;12:689892. [4]Rubin BY, Anderson SL. IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies. Appl Clin Genet. 2017 Dec 15;10:95-103...
[4]Rubin BY, Anderson SL. IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies. Appl Clin Genet. 2017 Dec 15;10:95-103. [5]Dietrich P, Dragatsis I. Familial Dysautonomia: Mechanisms and Models. Genet Mol Biol. 2016 Oct-Dec;39(4):497-514. doi...
A highly conserved germline point mutation located in the donor splice site of intron 20 of the human Elp1 gene leads to loss of its encoded protein and causes familial dysautonomia (FD; Riley-Day Syndrome; hereditary sensory and autonomic neuropathy, type 3; HSAN3), an autosomal recessive ...
mutation in the inhibitor of kappa B kinase complex-associated protein (IKAP, also called ELP1) gene IKBKAP/ELP1, a component of the Elongator complex... U Yumi,S Veronika,L Frances - 《Disease Models & Mechanisms》 被引量: 0发表: 2018年 Elp1p, the Yeast Homolog of the FD Disease Syn...
Mouse Ikbkap gene encodes IKAP—one of the core subunits of Elongator—and is thought to be involved in transcription. However, the biological function of IKAP, particularly within the context of an animal model, remains poorly characterized. We used a loss-of-function approach in mice to demons...
CDS-H04323-1 pDonR223-ELSPBP1 GateWay 2ug/0.5ml ￥800 现货 CDS-H04323-2 pMD18-T-ELSPBP1 TA克隆 2ug/0.5ml ￥800-1500 1-2周ELSPBP1 ORF克隆 货号产品名称Method规格价格货期 CDS-H04323-3 pEGFP-N1-ELSPBP1 酶切连接 2ug/0.5ml ￥1500起 2~3周 CDS-H04323-4 pcDNA3.1(+)-ELSPBP...