ArticleAmerican journal of human genetics2000
Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 80 citations in OpenAlex.
- Autosomal recessiveBMJ case reports · 2024Article
- Structural and functional insights into ABHD5, a ligand-regulated lipase co-activator.Scientific reports · 2022Article
- Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity.Molecular genetics & genomic medicine · 2020Article
- Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families.Congenital anomalies · 2019Article
- Transglutaminase-1 mutations in Omani families with lamellar ichthyosis.Medical principles and practice : international journal of the Kuwait University, Health Science Centre · 2013Article
- Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.American journal of human genetics · 2009Article
- Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.Human mutation · 2009Review
- Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism.Journal of lipid research · 2008Review
- Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders.Advances in dermatology · 2007Review
- A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association.Journal of human genetics · 2006Article
- Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.The Journal of investigative dermatology · 2002Article
- Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1.The Journal of clinical investigation · 2002Article
- Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.American journal of human genetics · 2001Article
- Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.American journal of human genetics · 2001Article
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Authors and funding
11 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive ichthyosis (ARI) includes a heterogeneous group of disorders of keratinization characterized by desquamation over the whole body. Two forms largely limited to the skin have been defined: lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). A first gene for LI, transglutaminase TGM1, has been identified on chromosome 14, and a second one has been localized on chromosome 2. In a genomewide scan of nine large consanguineous families, using homozygosity mapping, two new loci for ARI were found, one for a lamellar form in a 6-cM interval on chromosome 19 and a second for an erythrodermic form in a 7.7-cM interval on chromosome 3. Linkage to one of the four loci could be demonstrated in more than half of 51 consanguineous families, most of them from the Mediterranean basin. All four loci could be excluded in the others, implying further genetic heterogeneity in this disorder. Multipoint linkage analysis gave maximal LOD scores of 11.25 at locus D19S566 and 8.53 at locus D3S3564.
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