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Cited by 40Connective tissue disorders researchGenomics and Rare DiseasesDermatological and Skeletal Disorders

Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional proα2(I) chain and an EDS/OI clinical phenotype

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NICHOLLS, A C, VALLER, D, WALLIS, S, POPE, F M·2001·Journal of Medical Genetics
DOI 10.1136/jmg.38.2.132PMC PMC1734801
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Abstract

High-resolution aerial surveys are a highly effective means for monitoring new and dispersed invasive-species infestations across extensive areas of wildland. Invasive species constitute a leading threat to native vegetation in wildland settings. Monitoring and controlling these species are essential actions to preserving native-plant community integrity and historic wildland character. Infestations continue to increase. Monitoring with conventional ground or lower-resolution aerial data may be problematic as these tools are of questionable value for detecting small or dispersed weed populations. In July 2006, we conducted a dual-camera aerial survey acquiring 1- and 10-mm ground sample distance (GSD) imagery in the Medicine Lodge watershed in eastern Idaho. The survey included most of the 2003 Deep Fire Burn. Survey data were used to determine leafy spurge (Euphorbia esula L. [Euphorbiaceae]) distribution on burned and unburned lands and to relate spurge distribution to ecosystem structure, associated vegetation, and control efforts. Leafy spurge was detected in 10% of 10-mm GSD samples versus 8% of 1-mm GSD samples. We conclude that 10-mm GSD is best for detecting leafy spurge because it optimizes the balance between resolution and field-of-view. Litter was about 4% greater where spurge was present than where it was not, and spurge occurrence was associated with significant decreases in cover of native grasses, forbs, and sagebrush (Artemisia spp. L. [Asteraceae]). Leafy spurge proximity to water was higher than a random distribution would predict.

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  • In the two reported children (with the condition under discussion), there were no severe cardiovascular features, although mitral valve bulging was noted in one.

    “The two reported children had no severe cardiovascular features, although mitral valve bulging was noted in one [Nicholls et al., 2001;Malfait et al., 2006].”

    From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Nicholls et al., 2001

    The clinical description (J Med Genet 38:132–135; page not specified in our copy) reports that this paper’s child had a normal cardiovascular examination, ECG, and echocardiogram, supporting the absence of severe cardiovascular features in her. It reports one affected child, not two, and does not report mitral valve bulging. (LLM, conf=0.86)

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Research works printed but not linked: 34

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Authors
NICHOLLS, A. C., VALLER, D., WALLIS, S., & POPE, F. M.
Affiliations
University of Cambridge (GB)
Corresponding author
NICHOLLS, A C
Venue
Journal of Medical Genetics
Publisher
BMJ
Published
2001-02-01
Volume
38
Issue
2
Pages
132-136
ISSN
  • 0022-2593 (ISSN-L)
  • 1468-6244
DOI
10.1136/jmg.38.2.132
PMC
PMC1734801
OpenAlex
W2047364414
Cited by
40
References
0
Citations by year
2026: 2 · 2025: 1 · 2024: 1 · 2023: 1 · 2022: 1 · 2021: 2 · 2020: 4 · 2019: 6 · 2018: 3 · 2017: 2 · 2015: 1 · 2013: 3 · 2012: 1
FWCI
0.73
Type
journal article
Language
en
Open access
Locations
  • Journal of Medical Genetics (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
Keywords
COL1A2, splice site mutation, homozygosity, type I procollagen, Ehlers-Danlos syndrome, osteogenesis imperfecta, connective tissue diseases, collagen mutations
MeSH terms
Amino Acid Sequence, Base Sequence, Child, Collagen, DNA, DNA Mutational Analysis, Ehlers-Danlos Syndrome, Family Health, Female, Homozygote, Humans, Male, Mutation, Osteogenesis Imperfecta, Pedigree, Procollagen, Sequence Deletion, Alternative Splicing

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