Results: 3

1.
Figure 3

Figure 3. From: Hereditary Leukonychia, or Porcelain Nails, Resulting from Mutations in PLCD1.

PLCD1 Localization in Human Embryo Nail
(A–C) Anatomy of human embryo nail by (A) hematoxylin and eosin staining (M, nail matrix; B, nail bed) and by (B and C) PLCD1 staining (purple indicates positive staining) revealing cytoplasmic and membranous localization of PLCD1.
(D) Negative control.

Maija Kiuru, et al. Am J Hum Genet. 2011 June 10;88(6):839-844.
2.
Figure 1

Figure 1. From: Hereditary Leukonychia, or Porcelain Nails, Resulting from Mutations in PLCD1.

Clinical Features of Affected Individuals and Linkage to Chromosome 3 and Identification of Mutations in PLCD1
(A) Complete nail plate leukonychia involving all the finger and toe nails in affected individuals from both recessive families.
(B) Results of autozygosity mapping in family A. The maximum LOD score was obtained for a region on chromosome 3.
(C) Haplotype analysis in families A, B, C, and D. The linked haplotype is indicated in red, and key recombination events are indicated by arrows.

Maija Kiuru, et al. Am J Hum Genet. 2011 June 10;88(6):839-844.
3.
Figure 2

Figure 2. From: Hereditary Leukonychia, or Porcelain Nails, Resulting from Mutations in PLCD1.

Identification of Mutations in PLCD1 and Function of Mutant PLCD1
(A) Schematic representation of the candidate region harboring PLCD1. Arrows indicate the position and the direction of transcription of genes in the region. FCHP, LOC100130503, ARPP21, and STAC are located upstream of the region shown where the axis has been truncated.
(B and C) Mutation in PLCD1 in families A and B.
(B) Family A; homozygous mutation c.1309C>T, p.Arg437X in an affected individual V-4 (top); heterozygous mutation in an unaffected carrier V-6 (bottom).
(C) Family B; homozygous mutation c.1792-10delTGTAGTGGCC in affected member V-2 and heterozygous in carrier member V-1 of family B.
(D) Heterozygous c.1720C>T (antisense strand), p.Ala574Thr in family C.
(E) Heterozygous c.625T>C, p.Cys209Arg in family D.
(F) Function of p.Arg437X mutant PLCD1 protein in vitro by detection of phospholipase C downstream metabolite IP1. The quantity of IP1 was measured by ELISA 48 hr after transfection of HEK293T cells with vector only (negative control), vector and wild-type PLCD1 construct (positive control), and vector and mutant PLCD1 construct. The test was repeated five times and difference was statistically significant (p < 0.01).

Maija Kiuru, et al. Am J Hum Genet. 2011 June 10;88(6):839-844.

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