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Guards! Guards! How innate lymphoid cells ensure local law and order.
Häfner SJ. Häfner SJ. Biomed J. 2021 Apr;44(2):105-111. doi: 10.1016/j.bj.2021.04.007. Epub 2021 Apr 27. Biomed J. 2021. PMID: 33994144 Free PMC article.
Finally, we learn that mandibular movement during swallowing increases with the vertical dimension of occlusion, and that early controlled relaxation incisions restore the blood supply to the extremities in harlequin ichthyosis neonates....
Finally, we learn that mandibular movement during swallowing increases with the vertical dimension of occlusion, and that early controlled r …
Harlequin fetus: A case report.
Londhe MM, Patil TV, Suryawanshi KH. Londhe MM, et al. Indian J Pathol Microbiol. 2022 Apr-Jun;65(2):462-464. doi: 10.4103/IJPM.IJPM_1150_20. Indian J Pathol Microbiol. 2022. PMID: 35435396 Free article.
Harlequin ichthyosis (HI) is the most severe type of congenital ichthyosis. ...
Harlequin ichthyosis (HI) is the most severe type of congenital ichthyosis. ...
Two- and three-dimensional sonographic findings of harlequin ichthyosis: case report and literature review.
Liu Z, Jing C. Liu Z, et al. An Bras Dermatol. 2023 Nov-Dec;98(6):806-813. doi: 10.1016/j.abd.2022.09.013. Epub 2023 Jun 22. An Bras Dermatol. 2023. PMID: 37355352 Free PMC article. Review.
BACKGROUND: Harlequin ichthyosis (HI) is a rare skin disorder with extremely high lethality due to a mutation of the ABCA12 gene. ...
BACKGROUND: Harlequin ichthyosis (HI) is a rare skin disorder with extremely high lethality due to a mutation of the ABCA12 ge …
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
Hotz A, Kopp J, Bourrat E, Oji V, Süßmuth K, Komlosi K, Bouadjar B, Tantcheva-Poór I, Hellström Pigg M, Betz RC, Giehl K, Schedel F, Weibel L, Schulz S, Stölzl DV, Tadini G, Demiral E, Berggard K, Zimmer AD, Alter S, Fischer J. Hotz A, et al. Genes (Basel). 2023 Mar 15;14(3):717. doi: 10.3390/genes14030717. Genes (Basel). 2023. PMID: 36980989 Free PMC article.
The most severe form of ARCI, harlequin ichthyosis, is caused by mutations in ABCA12. Mutations in this gene can also lead to congenital ichthyosiform erythroderma or lamellar ichthyosis. ...Loss-of-function mutations on both alleles generally result in harlequin …
The most severe form of ARCI, harlequin ichthyosis, is caused by mutations in ABCA12. Mutations in this gene can also lead to …
Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.
Noda T, Takeichi T, Tanahashi K, Ogawa Y, Takeuchi S, Yoshikawa T, Toriyama E, Ashida M, Imakado S, Tsuchihashi H, Okamoto T, Okuno Y, Ogi T, Sugiura K, Kubo A, Muro Y, Suga Y, Ishida-Yamamoto A, Akiyama M. Noda T, et al. Exp Dermatol. 2024 Apr;33(4):e15072. doi: 10.1111/exd.15072. Exp Dermatol. 2024. PMID: 38576105
ARCI mainly consists of congenital ichthyosiform erythroderma (CIE), lamellar ichthyosis (LI) and harlequin ichthyosis (HI). The objective was to determine previously unreported pathogenic variants in ABCA12 and to update genotype-phenotype correlations for patients …
ARCI mainly consists of congenital ichthyosiform erythroderma (CIE), lamellar ichthyosis (LI) and harlequin ichthyosis (HI). T …
Juvenile idiopathic arthritis in infants with Harlequin Ichthyosis: two cases report and literature review.
Auriti C, Rotunno R, Diociaiuti A, Manzoni SM, Uva A, Bersani I, Santisi A, Dotta A, El Hachem M. Auriti C, et al. Ital J Pediatr. 2020 Apr 15;46(1):44. doi: 10.1186/s13052-020-0817-5. Ital J Pediatr. 2020. PMID: 32293521 Free PMC article. Review.
BACKGROUND: Harlequin Ichthyosis is the most severe variant of congenital autosomal recessive ichthyosis, associated with severe morbidity and potentially lethal in early life. ...Nonetheless caregivers should be aware of the possible occurrence of Juvenile Idiopath …
BACKGROUND: Harlequin Ichthyosis is the most severe variant of congenital autosomal recessive ichthyosis, associated with seve …
Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan.
Kurosawa M, Uehara R, Takagi A, Aoyama Y, Iwatsuki K, Amagai M, Nagai M, Nakamura Y, Inaba Y, Yokoyama K, Ikeda S. Kurosawa M, et al. J Am Acad Dermatol. 2019 Nov;81(5):1086-1092.e1. doi: 10.1016/j.jaad.2018.07.056. Epub 2018 Sep 26. J Am Acad Dermatol. 2019. PMID: 30268591
The estimated disease distribution was as follows: 95 (95% CI 80-110) patients with nonbullous congenital ichthyosiform erythroderma, 30 (95% CI 20-40) with lamellar ichthyosis, 15 (95% CI 10-20) with harlequin ichthyosis, and 85 (95% CI 50-120) with IS. LIMITATIONS …
The estimated disease distribution was as follows: 95 (95% CI 80-110) patients with nonbullous congenital ichthyosiform erythroderma, 30 (95 …
3D model of harlequin ichthyosis reveals inflammatory therapeutic targets.
Enjalbert F, Dewan P, Caley MP, Jones EM, Morse MA, Kelsell DP, Enright AJ, O'Toole EA. Enjalbert F, et al. J Clin Invest. 2020 Sep 1;130(9):4798-4810. doi: 10.1172/JCI132987. J Clin Invest. 2020. PMID: 32544098 Free PMC article.
The biology of harlequin ichthyosis (HI), a devastating skin disorder caused by loss-of-function mutations in the gene ABCA12, is poorly understood, and to date, no satisfactory treatment has been developed. ...
The biology of harlequin ichthyosis (HI), a devastating skin disorder caused by loss-of-function mutations in the gene ABCA12, …
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Hotz A, Kopp J, Bourrat E, Oji V, Komlosi K, Giehl K, Bouadjar B, Bygum A, Tantcheva-Poor I, Hellström Pigg M, Has C, Yang Z, Irvine AD, Betz RC, Zambruno G, Tadini G, Süßmuth K, Gruber R, Schmuth M, Mazereeuw-Hautier J, Jonca N, Guez S, Brena M, Hernandez-Martin A, van den Akker P, Bolling MC, Hannula-Jouppi K, Zimmer AD, Alter S, Vahlquist A, Fischer J. Hotz A, et al. Genes (Basel). 2021 Jan 9;12(1):80. doi: 10.3390/genes12010080. Genes (Basel). 2021. PMID: 33435499 Free PMC article.
The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes have been identified to cause …
The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, …
46 results