ABCMdb

PMID: 25218883

Kamimura K, Abe H, Kamimura N, Yamaguchi M, Mamizu M, Ogi K, Takahashi Y, Mizuno K, Kamimura H, Kobayashi Y, Takeuchi M, Yoshida K, Yamada K, Enomoto T, Takakuwa K, Nomoto M, Obata M, Katsuragi Y, Mishima Y, Kominami R, Kamimura T, Aoyagi Y
Successful management of severe intrahepatic cholestasis of pregnancy: report of a first Japanese case.
BMC Gastroenterol. 2014 Sep 13;14:160. doi: 10.1186/1471-230X-14-160., [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCB11 p.Val444Ala The sequence analysis showed SNPs reported their association with ICP in the ABCB11 (rs2287622, V444A) and ABCB4 (rs1202283, N168N) loci. Login to comment 23 ABCB11 p.Val444Ala ABCB4 p.Ser320Phe For example, the combination of homozygous polymorphisms in ABCB11 at the complementary DNA position 1331 with a thymine replaced by a cytosine (1331 T > C, rs2287622), leading to an exchange from valine to alanine (V444A), and in ABCB4 at position 959 in exon 9 with a cytosine replaced by a thymine (959 C > T), leading to an exchange of serine to phenylalanine (S320F), and some other synonymous SNPs are considered to be related to the etiology of severe type of ICP [15]. Login to comment 27 ABCB11 p.Val444Ala The genetic sequence analysis showed a homozygous polymorphism in ABCB11 at 1331 T > C leading to V444A that is often reported in the conditions [1,15]. Login to comment 48 ABCB11 p.Val444Ala The nonsynonymous polymorphism in ABCB11 was a major single-nucleotide exchange from thymine to cytosine at the position 1331 (1331 T > C), leading to an exchange from valine to alanine (V444A). Login to comment 63 ABCB11 p.Val444Ala In addition, it has been reported that the SNP in ABCB11 (1331 T > C), leading to an exchange from valine to alanine (V444A), is related Figure 1 Single-nucleotide polymorphisms in ABCB11 and ABCB4 of the patient. Login to comment