ABCMdb

ABCA12 p.Ser387Asn

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Publications

PMID: 21695020 [PubMed] Akiyama M et al: "The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis."

No. Sentence Comment

36 One patient was homozygous for the splice site mutation c.3295-2A>G4 and another was compound heterozygous for p.Ser387Asn and p.Thr1387del.29 Only one heterozygous mutation, p.Ile1494Thr, was identified in the other patient.30 Cultured keratinocytes from all three patients showed apparently disturbed glucosylceramide transport, although this assay is not quantitative. Login to comment
37 One patient was homozygous for the splice site mutation c.3295-2A>G4 and another was compound heterozygous for p.Ser387Asn and p.Thr1387del.29 Only one heterozygous mutation, p.Ile1494Thr, was identified in the other patient.30 Cultured keratinocytes from all three patients showed apparently disturbed glucosylceramide transport, although this assay is not quantitative. Login to comment

PMID: 20672373 [PubMed] Akiyama M et al: "ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts."

No. Sentence Comment

106 One patient was a homozygote for a splice site mutation c.3295À2A4G [Akiyama et al., 2005] and another patient was a compound heterozygote for p.Ser387Asn and p.Thr1387del [Akiyama et al., 2006a]. Login to comment

PMID: 17591952 [PubMed] Yamanaka Y et al: "Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis."

No. Sentence Comment

51 One patient harbored a homozygous splice site mutation c.3295-2AϾG and the other harbored heterozygous mutations: p.Ser387Asn and c.4158_4160del (p.Thr1387del) as previously reported.36 In detail, patients` keratinocytes were isolated from lesional epidermis after separation from the dermis by overnight treatment of dispase I (Godoshusei, Chiba, Japan). Login to comment
61 Thus, with the same methods, we reconstituted HI lesions using keratinocytes from another patient with HI who had heterozygous mutations affecting both ABCA12 alleles, p.Ser387Asn and c.4158_4160del (p.Thr1387del) (see Ref. 37 for further detailed analysis of the reconstituted lesions). Login to comment
128 We regenerated HI skin lesions using cultured keratinocytes harboring ABCA12 mutations p.Ser387Asn and c.4158_4160del (p.Thr1387del) and normal human fibroblasts. Login to comment
60 Thus, with the same methods, we reconstituted HI lesions using keratinocytes from another patient with HI who had heterozygous mutations affecting both ABCA12 alleles, p.Ser387Asn and c.4158_4160del (p.Thr1387del) (see Ref. 37 for further detailed analysis of the reconstituted lesions). Login to comment
127 We regenerated HI skin lesions using cultured keratinocytes harboring ABCA12 mutations p.Ser387Asn and c.4158_4160del (p.Thr1387del) and normal human fibroblasts. Login to comment

PMID: 16675967 [PubMed] Akiyama M et al: "Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity."

No. Sentence Comment

4 This patient with moderate clinical severity was compound heterozygous for a novel de novo missense mutation 1160G4A (S387N) in exon 10 and a maternal deletion mutation 4158_4160delTAC (T1387del) in exon 28 of ABCA12. Login to comment
6 Conversely, the residue 387 is located outside the known active sites of ABCA12 and S387N is predicted not to lead to a serious functional deficiency in ABCA12. Login to comment
16 In the study of this case, we have found a compound heterozygous ABCA12 combination of mutations, a novel de novo missense mutation, S387N, in exon 10 and a maternal deletion mutation T1387del in exon 28 in a newborn HI baby. Login to comment
20 In addition, the novel mutation S387N was the first reported de novo mutation in ABCA12. Login to comment
33 The mutation 1160G4A transition was a novel missense mutation that changed a serine residue of codon 387 to an asparagine residue (S387N). Login to comment
34 This missense mutation S387N was not found in either in the parent`s (father or mother), although the patient`s mother was heterozygous for the deletion mutation 4158_4160delTAC (Figure 2). Login to comment
35 Thus, the missense mutation S387N was thought to be a de novo mutation and the deletion mutation was a maternal mutation. Login to comment
52 1160G>A (S387N) 4158_4160delTAC (T1387del) (maternal) a b Patient Control Patient Control Father Mother Father Mother A A A A A A A A A A AA A A A A AA AA A A A A A A A A AA A A A AC C C C C C C CC C C CC C C CCC C C CC C C C CCCT T TTN N N N N N N N N T TTT T T TT T T T T T TT T T T T TTT G GGGGGGGGGGG GG GG G GG G G G G (de novo) TAC TAC Figure 2. Login to comment
54 (a) Direct sequencing revealed a heterozygous 1160G4A transition (a missense mutation S387N) in exon 10 of ABCA12 of the patient, but not in his parents or normal control samples. Login to comment
96 The novel de novo mutation S387N in the present patient is located outside all of the known ABCA12 active transporter sites, within the cytoplasmic domain at N-terminus of ABCA12 polypeptide (Figure 6). Login to comment
98 Thus, one would predict the de novo missense mutation S387N not to lead to a serious ABCA12 functional loss. Login to comment
111 The present novel missense mutation S387N in our case was the first de novo mutation reported in ABCA12. Login to comment
118 Briefly, genomic DNA isolated from peripheral blood was subjected to PCR amplification, followed by direct automated NH2 (de novo) (Maternal) T1387del (exon 28) S387N (exon 10) Cytoplasmicside B A COOH ATP-binding cassettes A B Walker A and B motifs Active transport signature Membrane Figure 6. Login to comment
121 Note that the de novo missense mutation S387N is located in the intracytoplasmic region between the N-terminus and the first transmembrane domain, not in any active sites, and the other, deletion mutation T1387del is within the first ATP-binding cassette, which is thought to be important for ABCA12 lipid transporter activity. Login to comment

PMID: 23954554 [PubMed] Akiyama M et al: "The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation."

No. Sentence Comment

83 One patient was homozygous for the splice-site mutation c.3295-2ANG [4], and another was compound heterozygous for p.Ser387Asn and p.Thr1387del [38]. Login to comment