PubMed (GeneRIF) for id: 285848

Year	Number of Results
2008	1
2009	1
2012	1
2013	1
2014	1
2015	2
2016	4
2017	10
2018	4
2019	4
2020	2
2022	1
2023	1
2024	0

1

Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions.

Rossel SVJ, Clabbers JMK, Steijlen PM, van den Akker PC, Spuls PI, Middelkamp Hup MA, van Maarle MC, Vreeburg M, Bolling MC, van Geel M, Gostyński A. Rossel SVJ, et al. J Eur Acad Dermatol Venereol. 2023 Dec;37(12):e1405-e1409. doi: 10.1111/jdv.19340. Epub 2023 Jul 24. J Eur Acad Dermatol Venereol. 2023. PMID: 37458571 No abstract available.

2

Impaired production of skin barrier lipid acylceramides and abnormal localization of PNPLA1 due to ichthyosis-causing mutations in PNPLA1.

Nohara T, Ohno Y, Kihara A. Nohara T, et al. J Dermatol Sci. 2022 Aug;107(2):89-94. doi: 10.1016/j.jdermsci.2022.07.008. Epub 2022 Aug 4. J Dermatol Sci. 2022. PMID: 35970721

3

Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis.

Watanabe N, Kono M, Suganuma M, Tanahashi K, Akiyama M. Watanabe N, et al. J Dermatol Sci. 2020 Jan;97(1):86-88. doi: 10.1016/j.jdermsci.2019.12.006. Epub 2019 Dec 12. J Dermatol Sci. 2020. PMID: 31864761 No abstract available.

4

Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis.

Li L, Liu W, Xu Y, Li M, Tang Q, Yu B, Cai R, Liu S. Li L, et al. Mol Genet Genomic Med. 2020 Feb;8(2):e1076. doi: 10.1002/mgg3.1076. Epub 2019 Dec 13. Mol Genet Genomic Med. 2020. PMID: 31833240 Free PMC article.

5

Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect.

Esperón-Moldes U, Ginarte Val M, Rodríguez-Pazos L, Fachal L, Azaña JM, Barberá Fons M, Viejo Diaz M, Vega A. Esperón-Moldes U, et al. Acta Derm Venereol. 2019 Sep 1;99(10):894-898. doi: 10.2340/00015555-3227. Acta Derm Venereol. 2019. PMID: 31120544 Free article.

6

Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of Autosomal Recessive Congenital Ichthyosis patients.

Onal G, Kutlu O, Ozer E, Gozuacik D, Karaduman A, Dokmeci Emre S. Onal G, et al. J Dermatol Sci. 2019 Jan;93(1):50-57. doi: 10.1016/j.jdermsci.2018.11.013. Epub 2018 Dec 4. J Dermatol Sci. 2019. PMID: 30655104

7

Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5.

Ohno Y, Nara A, Nakamichi S, Kihara A. Ohno Y, et al. J Dermatol Sci. 2018 Dec;92(3):245-253. doi: 10.1016/j.jdermsci.2018.11.005. Epub 2018 Nov 20. J Dermatol Sci. 2018. PMID: 30527376

8

Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis.

Dökmeci-Emre S, Taşkıran ZE, Yüzbaşıoğlu A, Önal G, Akarsu AN, Karaduman A, Özgüç M. Dökmeci-Emre S, et al. Turk J Pediatr. 2017;59(4):475-482. doi: 10.24953/turkjped.2017.04.017. Turk J Pediatr. 2017. PMID: 29624231 Free article.

9

Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects.

Youssefian L, Touati A, Vahidnezhad H, Saeidian AH, Sotoudeh S, Zeinali S, Uitto J. Youssefian L, et al. Br J Dermatol. 2018 Mar;178(3):e219-e221. doi: 10.1111/bjd.16053. Epub 2018 Jan 22. Br J Dermatol. 2018. PMID: 29023646 No abstract available.

10

Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis.

Diociaiuti A, Pisaneschi E, Zambruno G, Angioni A, Novelli A, Boldrini R, El Hachem M. Diociaiuti A, et al. J Eur Acad Dermatol Venereol. 2018 Mar;32(3):e110-e112. doi: 10.1111/jdv.14618. Epub 2017 Oct 27. J Eur Acad Dermatol Venereol. 2018. PMID: 28983987 No abstract available.

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