ArticleAmerican journal of medical genetics. Part A2010
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.
Article in American journal of medical genetics. Part A, 2010. 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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Who cites it
14 citing papers in PubMed, 37 citations in OpenAlex.
- Specific collagen XVIII isoforms promote adipose tissue accrual via mechanisms determining adipocyte number and affect fat deposition.Proceedings of the National Academy of Sciences of the United States of America · 2014Trial
- Knobloch Syndrome Associated with NovelGenes · 2021Article
- Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.Genes & genomics · 2021Article
- An Early Diagnostic Clue forFrontiers in cell and developmental biology · 2021Article
- Type XVIII Collagen Modulates Keratohyalin Granule Formation and Keratinization in Oral Mucosa.International journal of molecular sciences · 2019Article
- Knobloch syndrome caused by homozygous frameshift mutation of theInternational journal of ophthalmology · 2018Article
- 2,3,7,8 Tetrachlorodibenzo-p-dioxin-induced RNA abundance changes identify Ackr3, Col18a1, Cyb5a and Glud1 as candidate mediators of toxicity.Archives of toxicology · 2017Article
- Genetic Polymorphisms Associated to Folate Transport as Predictors of Increased Risk for Acute Lymphoblastic Leukemia in Mexican Children.Frontiers in pharmacology · 2016Article
- The dynamic sclera: extracellular matrix remodeling in normal ocular growth and myopia development.Experimental eye research · 2015Review
- Article
- ADAMTS-18: a metalloproteinase with multiple functions.Frontiers in bioscience (Landmark edition) · 2014Review
- Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.PloS one · 2014Article
- Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.Human mutation · 2013Article
- Cataract surgery in Knobloch syndrome: a case report.Clinical ophthalmology (Auckland, N.Z.) · 2011Article
Corrections and comments
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Authors and funding
8 authors at 6 institutions in 1 country.
Funding
Abstract
Knobloch syndrome (KNO) is caused by mutations in the collagen XVIII gene (COL18A1) and patients develop encephalocele and vitreoretinal degeneration. Here, we report an El Salvadorian family where two sisters showed features of KNO. One of the siblings also developed acute lymphoblastic leukemia. DNA sequencing of COL18A1 revealed a homozygous, 2-bp deletion (c3514-3515delCT) in exon 41, which leads to abnormal collagen XVIII and deficiency of its proteolytic cleavage product endostatin. KNO patients with mutations in COL18A1 may be at risk for endostatin-related conditions including malignancy.
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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.