ArticleAmerican journal of human genetics1994
Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
17 citing papers in PubMed, 99 citations in OpenAlex.
- Transglutaminase 1: Emerging Functions beyond Skin.International journal of molecular sciences · 2024Review
- Correction of the pathogenic mutation in TGM1 gene by adenine base editing in mutant embryos.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population.Scientific reports · 2019Article
- High frequency of primary hereditary ichthyoses in the North-East region of Cairo, Egypt.Postepy dermatologii i alergologii · 2018Article
- A case of lamellar ichthyosis with rickets and carcinoma of the hypopharynx.Indian journal of dermatology · 2014Article
- The genetics of human skin disease.Cold Spring Harbor perspectives in medicine · 2014Review
- Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.Cell death & disease · 2012Article
- Beta-actin is a target for transglutaminase activity at synaptic endings in chicken telencephalic cell cultures.Journal of molecular neuroscience : MN · 2012Article
- Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.Human mutation · 2009Review
- Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.Journal of medical genetics · 2009Article
- A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis.Journal of molecular modeling · 2007Article
- [Congenital ectropion in ichthyosis congenita mitis and gravis].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2006Article
- A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association.Journal of human genetics · 2006Article
- Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.American journal of human genetics · 2000Article
- Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis.American journal of human genetics · 1998Article
- Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.American journal of human genetics · 1997Article
- Cross-linking of the dermo-epidermal junction of skin regenerating from keratinocyte autografts. Anchoring fibrils are a target for tissue transglutaminase.The Journal of clinical investigation · 1996Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have mapped the locus for lamellar ichthyosis (LI), an autosomal recessive skin disease characterized by abnormal cornification of the epidermis. Analysis using both inbred and outbred families manifesting severe LI showed complete linkage to several markers within a 9.3-cM region on chromosome 14q11. Affected individuals in inbred families were also found to have striking homozygosity for markers in this region. Linkage-based genetic counseling and prenatal diagnosis is now available for informative at-risk families. Several transcribed genes have been mapped to the chromosome 14 region containing the LI gene. The transglutaminase 1 gene (TGM1), which encodes one of the enzymes responsible for cross-linking epidermal proteins during formation of the stratum corneum, maps to this interval. The TGM1 locus was completely linked to LI (Z = 9.11), suggesting that TGM1 is a good candidate for further investigation of this disorder. The genes for four serine proteases also map to this region but are expressed only in hematopoietic or mast cells, making them less likely candidates.
Indexed as
Identifiers
7977373PMC1918456W1587857667What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.