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Page 1
Clinical presentation and burden of ENPP1 deficiency in adults.
Seefried L. Seefried L. Arch Pediatr. 2024 Sep;31(4S1):4S33-4S36. doi: 10.1016/S0929-693X(24)00155-6. Arch Pediatr. 2024. PMID: 39343472 Review.
Furthermore, conditions with primarily extraskeletal signs and symptoms such as Cole disease, coagulopathies, and metabolic syndrome can seemingly result from ENPP1 variants. ...
Furthermore, conditions with primarily extraskeletal signs and symptoms such as Cole disease, coagulopathies, and metabolic sy …
ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.
Chourabi M, Liew MS, Lim S, H'mida-Ben Brahim D, Boussofara L, Dai L, Wong PM, Foo JN, Sriha B, Robinson KS, Denil S, Common JE, Mamaï O, Ben Khalifa Y, Bollen M, Liu J, Denguezli M, Bonnard C, Saad A, Reversade B. Chourabi M, et al. J Invest Dermatol. 2018 Feb;138(2):291-300. doi: 10.1016/j.jid.2017.08.045. Epub 2017 Sep 28. J Invest Dermatol. 2018. PMID: 28964717 Free article.
Cole disease is a genodermatosis of pigmentation following a strict dominant mode of inheritance. ...We found that this mutation, like those causing dominant Cole disease, impairs homodimerization of the ENPP1 enzyme that is mediated by its two somatom …
Cole disease is a genodermatosis of pigmentation following a strict dominant mode of inheritance. ...We found that this mutati …
Quantitative correlation of ENPP1 pathogenic variants with disease phenotype.
Ansh AJ, Stabach PR, Ciccone C, Cao W, De La Cruz EM, Sabbagh Y, Carpenter TO, Ferreira CR, Braddock DT. Ansh AJ, et al. Bone. 2024 Sep;186:117136. doi: 10.1016/j.bone.2024.117136. Epub 2024 May 26. Bone. 2024. PMID: 38806089 Free PMC article.
We found that ENPP1 variants associated with autosomal dominant phenotypes reduced enzyme velocities by 50 % or more, whereas variants associated with insulin resistance had non-significant effects on enzyme velocity. In Cole disease the catalytic velocities of ENPP …
We found that ENPP1 variants associated with autosomal dominant phenotypes reduced enzyme velocities by 50 % or more, whereas variants assoc …
Hyperpigmentation in a Chinese family with autosomal dominant Cole disease.
Li Z, Wang L, Wang S. Li Z, et al. Exp Dermatol. 2022 Feb;31(2):248-254. doi: 10.1111/exd.14434. Epub 2021 Jul 29. Exp Dermatol. 2022. PMID: 34297442
Based on clinical and genetic findings, a diagnosis of Cole disease was made. We identified a heterozygous mutation, p.C176R, in the ENPP1 gene in a Chinese family with Cole disease. This study clearly showed that hyperpigmentation could also occur in …
Based on clinical and genetic findings, a diagnosis of Cole disease was made. We identified a heterozygous mutation, p.C176R, …
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
Ralph D, Levine MA, Richard G, Morrow MM, Flynn EK, Uitto J, Li Q. Ralph D, et al. Hum Mutat. 2022 Sep;43(9):1183-1200. doi: 10.1002/humu.24391. Epub 2022 May 18. Hum Mutat. 2022. PMID: 35475527 Free PMC article. Review.
In this mutation update, we provide a comprehensive review of all the pathogenic variants, likely pathogenic variants, and variants of unknown significance in ENPP1 associated with three autosomal recessive disorders-generalized arterial calcification of infancy (GACI), autosomal …
In this mutation update, we provide a comprehensive review of all the pathogenic variants, likely pathogenic variants, and variants of unkno …
Cole Disease Results from Mutations in ENPP1.
Eytan O, Morice-Picard F, Sarig O, Ezzedine K, Isakov O, Li Q, Ishida-Yamamoto A, Shomron N, Goldsmith T, Fuchs-Telem D, Adir N, Uitto J, Orlow SJ, Taieb A, Sprecher E. Eytan O, et al. Am J Hum Genet. 2013 Oct 3;93(4):752-7. doi: 10.1016/j.ajhg.2013.08.007. Epub 2013 Sep 26. Am J Hum Genet. 2013. PMID: 24075184 Free PMC article.
Here, we deciphered the genetic basis of Cole disease, a rare autosomal-dominant genodermatosis featuring punctate keratoderma, patchy hypopigmentation, and uncommonly, cutaneous calcifications. ...
Here, we deciphered the genetic basis of Cole disease, a rare autosomal-dominant genodermatosis featuring punctate keratoderma …
Potential di-genic contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex.
Koren T, Zagairy F, Tatour Y, Belhanes-Peled H, Khayat M, Krausz J, Danial-Farran N, Ziv M, Cohen-Barak E. Koren T, et al. Exp Dermatol. 2022 Dec;31(12):1927-1931. doi: 10.1111/exd.14661. Epub 2022 Aug 23. Exp Dermatol. 2022. PMID: 35960249
Additionally, we identified a deleterious-predicted variant in ENPP1, a gene associated with disturbed transfer of melanosomes to keratinocytes in Cole disease. Our report expands the clinical spectrum of inherited EB simplex with a possible di-genic synergism contr …
Additionally, we identified a deleterious-predicted variant in ENPP1, a gene associated with disturbed transfer of melanosomes to keratinocy …
A novel ENPP1 mutation identified in a multigenerational family affected by Cole disease.
Gabaton N, Kannu P, Pope E, Shugar A, Lara-Corrales I. Gabaton N, et al. Pediatr Dermatol. 2020 Sep;37(5):868-871. doi: 10.1111/pde.14222. Epub 2020 Jun 29. Pediatr Dermatol. 2020. PMID: 32598042
Cole disease is a rare autosomal dominant genodermatosis with only five cases published in literature since its first description in 1976. ...Whole exome sequence analysis revealed a novel variant of the ENPP1 gene mutation, which has not been previously reported to …
Cole disease is a rare autosomal dominant genodermatosis with only five cases published in literature since its first descript …
15 results