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Quoted phrase not found in phrase index: "Autosomal recessive congenital ichthyosis 7"
Page 1
Lipid Nanoparticle-Mediated Hit-and-Run Approaches Yield Efficient and Safe In Situ Gene Editing in Human Skin.
Bolsoni J, Liu D, Mohabatpour F, Ebner R, Sadhnani G, Tafech B, Leung J, Shanta S, An K, Morin T, Chen Y, Arguello A, Choate K, Jan E, Ross CJD, Brambilla D, Witzigmann D, Kulkarni J, Cullis PR, Hedtrich S. Bolsoni J, et al. ACS Nano. 2023 Nov 14;17(21):22046-22059. doi: 10.1021/acsnano.3c08644. Epub 2023 Nov 2. ACS Nano. 2023. PMID: 37918441 Free PMC article.
While obtaining similar gene editing rates using Cas9 RNP and mRNA with MC3-based LNPs (10-16%), mRNA-loaded LNPs proved to be more cytotoxic. Interestingly, ionizable lipids with a pK(a) 7.1 yielded superior gene editing rates (55%-72%) in two-dimensional (2D) epithelial …
While obtaining similar gene editing rates using Cas9 RNP and mRNA with MC3-based LNPs (10-16%), mRNA-loaded LNPs proved to be more cytotoxi …
The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.
Abeni D, Rotunno R, Diociaiuti A, Giancristoforo S, Bonamonte D, Filoni A, Schepis C, Siragusa M, Neri I, Virdi A, Castiglia D, Zambruno G, Bodemer C, El Hachem M. Abeni D, et al. Acta Derm Venereol. 2021 Jun 22;101(6):adv00477. doi: 10.2340/00015555-3822. Acta Derm Venereol. 2021. PMID: 33954798 Free PMC article.
Autosomal recessive congenital ichthyoses (ARCI) are characterized by generalized skin scaling, hyperkeratosis, erythroderma, and disabling features affecting the skin (palmoplantar keratoderma, fissures, pain, itch), eyes, ears, and joints. ...A total of 94 …
Autosomal recessive congenital ichthyoses (ARCI) are characterized by generalized skin scaling, hyperkeratosis, erythro …
Knockdown of SDR9C7 Impairs Epidermal Barrier Function.
Youssefian L, Niaziorimi F, Saeidian AH, South AP, Khosravi-Bachehmir F, Khodavaisy S, Vahidnezhad H, Uitto J. Youssefian L, et al. J Invest Dermatol. 2021 Jul;141(7):1754-1764.e1. doi: 10.1016/j.jid.2020.11.030. Epub 2021 Jan 7. J Invest Dermatol. 2021. PMID: 33422619 Free article.
The Mendelian disorders of cornification consist of a highly heterogeneous group of diseases, and the majority of nonsyndromic cases belong to the family of autosomal recessive congenital ichthyosis. Mutations in SDR9C7 have been associated with aut …
The Mendelian disorders of cornification consist of a highly heterogeneous group of diseases, and the majority of nonsyndromic cases belong …
Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
Simpson JK, Martinez-Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W, Tierney C, Simpson MA, Desomchoke R, Youssefian L, SaeIdian AH, Vahidnezhad H, Bisquera A, Ravenscroft J, Moss C, O'Toole EA, Burrows N, Leech S, Jones EA, Lim D, Ilchyshyn A, Goldstraw N, Cork MJ, Darne S, Uitto J, Martinez AE, Mellerio JE, McGrath JA. Simpson JK, et al. Br J Dermatol. 2020 Mar;182(3):729-737. doi: 10.1111/bjd.18211. Epub 2019 Aug 26. Br J Dermatol. 2020. PMID: 31168818
BACKGROUND: Recessive forms of congenital ichthyosis encompass a group of rare inherited disorders of keratinization leading to dry, scaly skin. ...Mutations in 13 genes are known to cause recessive forms of ichthyosis: ABCA12, ALOX12B, ALOXE3, …
BACKGROUND: Recessive forms of congenital ichthyosis encompass a group of rare inherited disorders of keratinization le …
Vitamin D: A New Promising Therapy for Congenital Ichthyosis.
Sethuraman G, Marwaha RK, Challa A, Yenamandra VK, Ramakrishnan L, Thulkar S, Sharma VK. Sethuraman G, et al. Pediatrics. 2016 Jan;137(1). doi: 10.1542/peds.2015-1313. Epub 2015 Dec 31. Pediatrics. 2016. PMID: 26721572
Seven children with congenital ichthyosis (5 with autosomal recessive congenital ichthyosis; 2 with epidermolytic ichthyosis) and severe vitamin D deficiency (and/or rickets) were given 60,000 IU of oral cholecalciferol daily for 1 …
Seven children with congenital ichthyosis (5 with autosomal recessive congenital ichthyosis; 2 wit …
Use of Topical Glycolic Acid Plus a Lovastatin-Cholesterol Combination Cream for the Treatment of Autosomal Recessive Congenital Ichthyoses.
Khalil S, Bardawil T, Saade S, Chedraoui A, Ramadan N, Hasbani DJ, Abbas O, Nemer G, Rubeiz N, Kurban M. Khalil S, et al. JAMA Dermatol. 2018 Nov 1;154(11):1320-1323. doi: 10.1001/jamadermatol.2018.2904. JAMA Dermatol. 2018. PMID: 30208477 Free PMC article.
IMPORTANCE: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders caused by defects in signaling pathways involved in epidermal proliferation and differentiation, leading to a wide range of skin manifestations. ...The a …
IMPORTANCE: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders caused by def …
High prevalence of autosomal recessive congenital ichthyosis in a Mexican population caused by a new mutation in the TGM1 gene: epidemiological evidence of a founder effect.
González-Del Carmen M, Montaño S, Reyes-Hernández OD, Vizcaíno-Dorado PA, Leyva-García N, Morales-Morfín JC, Diaz-Beltran W, Quinto-Santiago E, Cariño-Calvo L, Magaña JJ, Leyva-Gómez G, Cortés H. González-Del Carmen M, et al. Int J Dermatol. 2020 Aug;59(8):969-977. doi: 10.1111/ijd.14952. Epub 2020 May 21. Int J Dermatol. 2020. PMID: 32436339
BACKGROUND: Autosomal recessive congenital ichthyoses (ARCI) are inherited disorders produced by mutations in essential genes for the skin function. ...In this respect, to our knowledge, the prevalence of ARCI found in the studied communities is the highest …
BACKGROUND: Autosomal recessive congenital ichthyoses (ARCI) are inherited disorders produced by mutations in essential …
Specific TGM1 mutation profiles in bathing suit and self-improving collodion ichthyoses: phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis.
Bourrat E, Blanchet-Bardon C, Derbois C, Cure S, Fischer J. Bourrat E, et al. Arch Dermatol. 2012 Oct;148(10):1191-5. doi: 10.1001/archdermatol.2012.1947. Arch Dermatol. 2012. PMID: 22801880
BACKGROUND: Bathing suit ichthyosis (BSI) and self-improving collodion ichthyosis (SICI) are 2 minor variants of generalized autosomal recessive congenital ichthyosis. ...All of our patients with BSI or SICI carried at least 1 specific mi …
BACKGROUND: Bathing suit ichthyosis (BSI) and self-improving collodion ichthyosis (SICI) are 2 minor variants of generalized …
Family burden in inherited ichthyosis: creation of a specific questionnaire.
Dufresne H, Hadj-Rabia S, Méni C, Sibaud V, Bodemer C, Taïeb C. Dufresne H, et al. Orphanet J Rare Dis. 2013 Feb 15;8:28. doi: 10.1186/1750-1172-8-28. Orphanet J Rare Dis. 2013. PMID: 23414570 Free PMC article.
Secondarily, the validation of the questionnaire, including the assessment of its reliability, external validity, reproducibility and sensitivity, was carried out on a population of patients affected by autosomal recessive congenital ichthyosis. A popu …
Secondarily, the validation of the questionnaire, including the assessment of its reliability, external validity, reproducibility and sensit …
An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis.
Paller AS, Renert-Yuval Y, Suprun M, Esaki H, Oliva M, Huynh TN, Ungar B, Kunjravia N, Friedland R, Peng X, Zheng X, Estrada YD, Krueger JG, Choate KA, Suárez-Fariñas M, Guttman-Yassky E. Paller AS, et al. J Allergy Clin Immunol. 2017 Jan;139(1):152-165. doi: 10.1016/j.jaci.2016.07.019. Epub 2016 Aug 20. J Allergy Clin Immunol. 2017. PMID: 27554821 Free PMC article.
METHODS: We analyzed biopsy specimens from 21 genotyped patients with ichthyosis (congenital ichthyosiform erythroderma, n = 6; lamellar ichthyosis, n = 7; epidermolytic ichthyosis, n = 5; and Netherton syndrome, n = 3) using immunohistoc …
METHODS: We analyzed biopsy specimens from 21 genotyped patients with ichthyosis (congenital ichthyosiform erythroderma, n = 6 …
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