Below are the most recent publications written about "Genes, Recessive" by people in Profiles.
-
Stone W, Strege C, Miller W, Geurts AM, Grzybowski M, Riddle M, Lees C, Eide C, Keene DR, Tufa SF, Seelig D, McGrath J, Tolar J. Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype. PLoS One. 2024; 19(5):e0302991.
-
Saced?n R, de Arriba MC, Mart?nez-Santamar?a L, Maseda R, Herr?iz-Gil S, Jim?nez E, Rosales I, Quintana L, Illera N, Garc?a M, Butta N, Fern?ndez-Bello I, Lwin SM, Fern?ndez-Arquero M, Le?n C, McGrath JA, Vicente M?, Del R?o M, de Lucas R, S?nchez-Ram?n S, Esc?mez MJ. Gluten-sensitive enteropathy in recessive dystrophic epidermolysis bullosa. Br J Dermatol. 2023 11 16; 189(6):774-776.
-
Onoufriadis A, Proudfoot LE, Ainali C, Torre D, Papanikolaou M, Rayinda T, Rashidghamat E, Danarti R, Mellerio JE, Ma'ayan A, McGrath JA. Transcriptomic profiling of recessive dystrophic epidermolysis bullosa wounded skin highlights drug repurposing opportunities to improve wound healing. Exp Dermatol. 2022 03; 31(3):420-426.
-
Warshauer EM, Brown A, Fuentes I, Shortt J, Gignoux C, Montinaro F, Metspalu M, Youssefian L, Vahidnezhad H, Jack?w J, Christiano AM, Uitto J, Fajardo-Ram?rez ?R, Salas-Alanis JC, McGrath JA, Consuegra L, Rivera C, Maier PA, Runfeldt G, Behar DM, Skorecki K, Sprecher E, Palisson F, Norris DA, Bruckner AL, Kogut I, Bilousova G, Roop DR. Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry. Am J Med Genet A. 2021 11; 185(11):3390-3400.
-
Kalay Yildizhan I, G?kpinar Ili E, Onoufriadis A, Kocyigit P, Kesidou E, Simpson MA, McGrath JA, Kutlay NY, Kundakci N. New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis. Cytogenet Genome Res. 2020; 160(9):523-530.
-
Rehman AU, Peter VG, Quinodoz M, Dawood M, Rivolta C. Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa. Clin Dysmorphol. 2020 Apr; 29(2):86-89.
-
Oktem A, Doolan BJ, Akay BN, Onoufriadis A, Okcu Heper A, Kocak O, Ersoy-Evans S, McGrath JA. Autosomal recessive mutations in plakoglobin and risk of cardiac abnormalities. Clin Exp Dermatol. 2020 Jul; 45(5):654-657.
-
Chiu FPC, Wessagowit V, Cakmak MF, Doolan BJ, Kootiratrakarn T, Chaowalit P, Bunnag T, Simpson MA, McGrath JA, Onoufriadis A. Molecular basis and inheritance patterns of amyloidosis cutis dyschromica. Clin Exp Dermatol. 2020 Jul; 45(5):650-653.
-
Gaucher S, Lwin SM, Titeux M, Abdul-Wahab A, Pironon N, Izmiryan A, Miskinyte S, Ganier C, Duchatelet S, Mellerio JE, Bourrat E, McGrath JA, Hovnanian A. EBGene trial: patient preselection outcomes for the European GENEGRAFT ex?vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa. Br J Dermatol. 2020 03; 182(3):794-797.
-
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. Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis. Br J Dermatol. 2020 03; 182(3):729-737.