200 related articles for article (PubMed ID: 31081706)
1. Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing.
Karim N; Ullah A; Murtaza G; Naeem M
Genet Test Mol Biomarkers; 2019 Jun; 23(6):428-432. PubMed ID: 31081706
[No Abstract] [Full Text] [Related]
2. 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
Turk J Pediatr; 2017; 59(4):475-482. PubMed ID: 29624231
[TBL] [Abstract][Full Text] [Related]
3. Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.
Zimmer AD; Kim GJ; Hotz A; Bourrat E; Hausser I; Has C; Oji V; Stieler K; Vahlquist A; Kunde V; Weber B; Radner FPW; Leclerc-Mercier S; Schlipf N; Demmer P; Küsel J; Fischer J
Br J Dermatol; 2017 Aug; 177(2):445-455. PubMed ID: 28093717
[TBL] [Abstract][Full Text] [Related]
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
Mol Genet Genomic Med; 2020 Feb; 8(2):e1076. PubMed ID: 31833240
[TBL] [Abstract][Full Text] [Related]
5. PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier.
Pichery M; Huchenq A; Sandhoff R; Severino-Freire M; Zaafouri S; Opálka L; Levade T; Soldan V; Bertrand-Michel J; Lhuillier E; Serre G; Maruani A; Mazereeuw-Hautier J; Jonca N
Hum Mol Genet; 2017 May; 26(10):1787-1800. PubMed ID: 28369476
[TBL] [Abstract][Full Text] [Related]
6. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.
Grall A; Guaguère E; Planchais S; Grond S; Bourrat E; Hausser I; Hitte C; Le Gallo M; Derbois C; Kim GJ; Lagoutte L; Degorce-Rubiales F; Radner FP; Thomas A; Küry S; Bensignor E; Fontaine J; Pin D; Zimmermann R; Zechner R; Lathrop M; Galibert F; André C; Fischer J
Nat Genet; 2012 Jan; 44(2):140-7. PubMed ID: 22246504
[TBL] [Abstract][Full Text] [Related]
7. Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
Heinz L; Kim GJ; Marrakchi S; Christiansen J; Turki H; Rauschendorf MA; Lathrop M; Hausser I; Zimmer AD; Fischer J
Am J Hum Genet; 2017 Jun; 100(6):926-939. PubMed ID: 28575648
[TBL] [Abstract][Full Text] [Related]
8. Variants in the
Ahmad F; Ahmed I; Alam Q; Ahmad T; Khan A; Ahmad I; Bilal M; Hayat A; Khan A; Waqas A; Rafeeq MM; Sain ZM; Umair M
Mol Syndromol; 2021 Oct; 12(6):351-361. PubMed ID: 34899144
[TBL] [Abstract][Full Text] [Related]
9. 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
J Dermatol Sci; 2019 Jan; 93(1):50-57. PubMed ID: 30655104
[TBL] [Abstract][Full Text] [Related]
10. Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family.
Lee E; Rahman OU; Khan MT; Wadood A; Naeem M; Kang C; Jelani M
J Dermatol Sci; 2016 Apr; 82(1):46-8. PubMed ID: 26778108
[No Abstract] [Full Text] [Related]
11. Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.
Vahidnezhad H; Youssefian L; Saeidian AH; Zeinali S; Mansouri P; Sotoudeh S; Barzegar M; Mohammadi-Asl J; Karamzadeh R; Abiri M; McCormick K; Fortina P; Uitto J
J Invest Dermatol; 2017 Mar; 137(3):678-685. PubMed ID: 27884779
[TBL] [Abstract][Full Text] [Related]
12. Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.
Chiramel MJ; Mathew L; Athirayath R; Chapla A; Sathishkumar D; Mani T; Danda S; George R
Pediatr Dermatol; 2022 May; 39(3):420-424. PubMed ID: 35412663
[TBL] [Abstract][Full Text] [Related]
13. Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.
Ullah R; Ansar M; Durrani ZU; Lee K; Santos-Cortez RL; Muhammad D; Ali M; Zia M; Ayub M; Khan S; Smith JD; Nickerson DA; Shendure J; Bamshad M; Leal SM; Ahmad W
Int J Dermatol; 2016 May; 55(5):524-30. PubMed ID: 26578203
[TBL] [Abstract][Full Text] [Related]
14. Novel Pathogenic Mutation of
Li H; Qian LJ; Xu N; Huang L; Qiao LX
Chin Med Sci J; 2022 Dec; 37(4):349-352. PubMed ID: 36647593
[TBL] [Abstract][Full Text] [Related]
15. Identification and
Almazroea A; Ijaz A; Aziz A; Mushtaq Yasinzai M; Rafiullah R; Rehman FU; Daud S; Shaikh R; Ayub M; Wali A
Medicina (Kaunas); 2023 Jan; 59(1):. PubMed ID: 36676727
[TBL] [Abstract][Full Text] [Related]
16. Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis.
Sugiura K; Akiyama M
J Dermatol Sci; 2015 Jul; 79(1):4-9. PubMed ID: 25982146
[TBL] [Abstract][Full Text] [Related]
17. Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.
Youssefian L; Vahidnezhad H; Saeidian AH; Touati A; Sotoudeh S; Mahmoudi H; Mansouri P; Daneshpazhooh M; Aghazadeh N; Hesari KK; Basiri M; Londin E; Kumar G; Zeinali S; Fortina P; Uitto J
Hum Mutat; 2019 Mar; 40(3):288-298. PubMed ID: 30578701
[TBL] [Abstract][Full Text] [Related]
18. 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
Br J Dermatol; 2020 Mar; 182(3):729-737. PubMed ID: 31168818
[TBL] [Abstract][Full Text] [Related]
19. Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families.
Rahman SB; Mir A; Ahmad N; Haider SH; Malik SA; Nasir M
Congenit Anom (Kyoto); 2019 May; 59(3):93-98. PubMed ID: 29935003
[TBL] [Abstract][Full Text] [Related]
20. 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
Acta Derm Venereol; 2019 Sep; 99(10):894-898. PubMed ID: 31120544
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
