FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2061164361> ?p ?o ?g. }

• W2061164361 endingPage "39" @default.
• W2061164361 startingPage "25" @default.
• W2061164361 abstract "Spontaneous pathologic arterial calcifications in childhood can occur in generalized arterial calcification of infancy (GACI) or in pseudoxanthoma elasticum (PXE). GACI is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 are known to cause PXE. However, the genetic basis in subsets of both disease phenotypes remains elusive. We hypothesized that GACI and PXE are in a closely related spectrum of disease. We used a standardized questionnaire to retrospectively evaluate the phenotype of 92 probands with a clinical history of GACI. We obtained the ENPP1 genotype by conventional sequencing. In those patients with less than two disease-causing ENPP1 mutations, we sequenced ABCC6. We observed that three GACI patients who carried biallelic ENPP1 mutations developed typical signs of PXE between 5 and 8 years of age; these signs included angioid streaks and pseudoxanthomatous skin lesions. In 28 patients, no disease-causing ENPP1 mutation was found. In 14 of these patients, we detected pathogenic ABCC6 mutations (biallelic mutations in eight patients, monoallelic mutations in six patients). Thus, ABCC6 mutations account for a significant subset of GACI patients, and ENPP1 mutations can also be associated with PXE lesions in school-aged children. Based on the considerable overlap of genotype and phenotype of GACI and PXE, both entities appear to reflect two ends of a clinical spectrum of ectopic calcification and other organ pathologies, rather than two distinct disorders. ABCC6 and ENPP1 mutations might lead to alterations of the same physiological pathways in tissues beyond the artery." @default.
• W2061164361 created "2016-06-24" @default.
• W2061164361 creator A5006686932 @default.
• W2061164361 creator A5011993692 @default.
• W2061164361 creator A5012208098 @default.
• W2061164361 creator A5012662500 @default.
• W2061164361 creator A5012914873 @default.
• W2061164361 creator A5014993994 @default.
• W2061164361 creator A5017232127 @default.
• W2061164361 creator A5017322737 @default.
• W2061164361 creator A5020195544 @default.
• W2061164361 creator A5020916300 @default.
• W2061164361 creator A5027763776 @default.
• W2061164361 creator A5028202256 @default.
• W2061164361 creator A5028582431 @default.
• W2061164361 creator A5036501097 @default.
• W2061164361 creator A5037473371 @default.
• W2061164361 creator A5042354518 @default.
• W2061164361 creator A5047492164 @default.
• W2061164361 creator A5048937740 @default.
• W2061164361 creator A5049073878 @default.
• W2061164361 creator A5050178242 @default.
• W2061164361 creator A5050648441 @default.
• W2061164361 creator A5053389880 @default.
• W2061164361 creator A5057592368 @default.
• W2061164361 creator A5058304064 @default.
• W2061164361 creator A5061411369 @default.
• W2061164361 creator A5061697123 @default.
• W2061164361 creator A5062101508 @default.
• W2061164361 creator A5068790445 @default.
• W2061164361 creator A5079824415 @default.
• W2061164361 creator A5082805997 @default.
• W2061164361 creator A5089594844 @default.
• W2061164361 date "2012-01-01" @default.
• W2061164361 modified "2023-10-15" @default.
• W2061164361 title "Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6" @default.
• W2061164361 cites W1496990746 @default.
• W2061164361 cites W1605020879 @default.
• W2061164361 cites W1965619867 @default.
• W2061164361 cites W1966475206 @default.
• W2061164361 cites W1974807791 @default.
• W2061164361 cites W1976364109 @default.
• W2061164361 cites W1981111205 @default.
• W2061164361 cites W1984898235 @default.
• W2061164361 cites W1997403604 @default.
• W2061164361 cites W2000656791 @default.
• W2061164361 cites W2001568974 @default.
• W2061164361 cites W2004930292 @default.
• W2061164361 cites W2006155185 @default.
• W2061164361 cites W2013220666 @default.
• W2061164361 cites W2015565370 @default.
• W2061164361 cites W2016959636 @default.
• W2061164361 cites W2022545583 @default.
• W2061164361 cites W2031305277 @default.
• W2061164361 cites W2036458282 @default.
• W2061164361 cites W2036647088 @default.
• W2061164361 cites W2037718729 @default.
• W2061164361 cites W2040650579 @default.
• W2061164361 cites W2042065343 @default.
• W2061164361 cites W2044740254 @default.
• W2061164361 cites W2045688414 @default.
• W2061164361 cites W2046104930 @default.
• W2061164361 cites W2046349924 @default.
• W2061164361 cites W2047829280 @default.
• W2061164361 cites W2049584315 @default.
• W2061164361 cites W2050322944 @default.
• W2061164361 cites W2050354012 @default.
• W2061164361 cites W2054214883 @default.
• W2061164361 cites W2058661967 @default.
• W2061164361 cites W2060920739 @default.
• W2061164361 cites W2062168703 @default.
• W2061164361 cites W2063729350 @default.
• W2061164361 cites W2066466374 @default.
• W2061164361 cites W2070669725 @default.
• W2061164361 cites W2071469560 @default.
• W2061164361 cites W2075571620 @default.
• W2061164361 cites W2077260227 @default.
• W2061164361 cites W2081871802 @default.
• W2061164361 cites W2083348144 @default.
• W2061164361 cites W2083844423 @default.
• W2061164361 cites W2083939824 @default.
• W2061164361 cites W2090919618 @default.
• W2061164361 cites W2105727026 @default.
• W2061164361 cites W2108998829 @default.
• W2061164361 cites W2110411650 @default.
• W2061164361 cites W2113854172 @default.
• W2061164361 cites W2115629484 @default.
• W2061164361 cites W2116946904 @default.
• W2061164361 cites W2123771602 @default.
• W2061164361 cites W2124309684 @default.
• W2061164361 cites W2135064923 @default.
• W2061164361 cites W2152938368 @default.
• W2061164361 cites W2166149223 @default.
• W2061164361 cites W2169170480 @default.
• W2061164361 doi "https://doi.org/10.1016/j.ajhg.2011.11.020" @default.
• W2061164361 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3257960" @default.
• W2061164361 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22209248" @default.
• W2061164361 hasPublicationYear "2012" @default.

• next