PubMed for id: 348938

Year	Number of Results
1993	1
1996	1
1997	1
2001	1
2002	1
2004	1
2005	1
2006	1
2007	1
2009	3
2010	3
2011	2
2012	4
2013	1
2015	1
2016	2
2017	2
2018	1
2019	4
2020	3
2021	1
2022	1
2023	2
2024	0

1

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.

Charfeddine C, Laroussi N, Mkaouar R, Jouini R, Khayat O, Redissi A, Mosbah A, Dallali H, Chedly Debbiche A, Zaouak A, Fenniche S, Abdelhak S, Hammami-Ghorbel H. Charfeddine C, et al. PLoS One. 2021 Oct 20;16(10):e0258777. doi: 10.1371/journal.pone.0258777. eCollection 2021. PLoS One. 2021. PMID: 34669720 Free PMC article.

2

Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity.

Laadhar S, Ben Mansour R, Marrakchi S, Miled N, Ennouri M, Fischer J, Kaddechi MA, Turki H, Fakhfakh F. Laadhar S, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1104. doi: 10.1002/mgg3.1104. Epub 2019 Dec 26. Mol Genet Genomic Med. 2020. PMID: 31876100 Free PMC article.

3

Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.

Ballin N, Hotz A, Bourrat E, Küsel J, Oji V, Bouadjar B, Brognoli D, Hickman G, Heinz L, Vabres P, Marrakchi S, Leclerc-Mercier S, Irvine A, Tadini G, Hamm H, Has C, Blume-Peytavi U, Mitter D, Reitenbach M, Hausser I, Zimmer AD, Alter S, Fischer J. Ballin N, et al. Hum Mutat. 2019 Dec;40(12):2318-2333. doi: 10.1002/humu.23883. Epub 2019 Sep 6. Hum Mutat. 2019. PMID: 31347739

4

Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)-Deficient Canines.

Mauldin EA, Crumrine D, Casal ML, Jeong S, Opálka L, Vavrova K, Uchida Y, Park K, Craiglow B, Choate KA, Shin KO, Lee YM, Grove GL, Wakefield JS, Khnykin D, Elias PM. Mauldin EA, et al. Am J Pathol. 2018 Jun;188(6):1419-1429. doi: 10.1016/j.ajpath.2018.02.008. Epub 2018 Mar 13. Am J Pathol. 2018. PMID: 29548991 Free PMC article.

5

A Japanese Case of Ichthyosiform Erythroderma with a Novel Mutation in NIPAL4/Ichthyin.

Kusakabe M, Nagai M, Nakano E, Jitsukawa O, Nishigori C, Yamanishi K. Kusakabe M, et al. Acta Derm Venereol. 2017 Mar 10;97(3):397-398. doi: 10.2340/00015555-2550. Acta Derm Venereol. 2017. PMID: 27868142 Free article. No abstract available.

6

Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis.

Maier D, Mazereeuw-Hautier J, Tilinca M, Cosgarea R, Jonca N. Maier D, et al. Clin Exp Dermatol. 2016 Apr;41(3):279-82. doi: 10.1111/ced.12740. Epub 2015 Oct 12. Clin Exp Dermatol. 2016. PMID: 26456858

7

Ichthyin/NIPAL4 localizes to keratins and desmosomes in epidermis and Ichthyin mutations affect epidermal lipid metabolism.

Dahlqvist J, Westermark GT, Vahlquist A, Dahl N. Dahlqvist J, et al. Arch Dermatol Res. 2012 Jul;304(5):377-86. doi: 10.1007/s00403-012-1207-7. Epub 2012 Jan 19. Arch Dermatol Res. 2012. PMID: 22258272

8

Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4.

Alavi A, Shahshahani MM, Klotzle B, Fan JB, Ronaghi M, Elahi E. Alavi A, et al. J Dermatol. 2012 Apr;39(4):375-81. doi: 10.1111/j.1346-8138.2011.01412.x. Epub 2011 Nov 21. J Dermatol. 2012. PMID: 22098531

9

NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis.

Wajid M, Kurban M, Shimomura Y, Christiano AM. Wajid M, et al. Dermatology. 2010;220(1):8-14. doi: 10.1159/000265757. Epub 2009 Dec 10. Dermatology. 2010. PMID: 20016120 Free PMC article.

10

Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.

Dahlqvist J, Klar J, Hausser I, Anton-Lamprecht I, Pigg MH, Gedde-Dahl T Jr, Gånemo A, Vahlquist A, Dahl N. Dahlqvist J, et al. J Med Genet. 2007 Oct;44(10):615-20. doi: 10.1136/jmg.2007.050542. Epub 2007 Jun 8. J Med Genet. 2007. PMID: 17557927 Free PMC article.

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