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An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism.
Mégarbané H, Florence J, Sass JO, Schwonbeck S, Foglio M, de Cid R, Cure S, Saker S, Mégarbané A, Fischer J. Mégarbané H, et al. Among authors: saker s. J Invest Dermatol. 2009 Jul;129(7):1650-5. doi: 10.1038/jid.2008.450. Epub 2009 Feb 5. J Invest Dermatol. 2009. PMID: 19194475 Free article.
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.
Lesueur F, Bouadjar B, Lefèvre C, Jobard F, Audebert S, Lakhdar H, Martin L, Tadini G, Karaduman A, Emre S, Saker S, Lathrop M, Fischer J. Lesueur F, et al. Among authors: saker s. J Invest Dermatol. 2007 Apr;127(4):829-34. doi: 10.1038/sj.jid.5700640. Epub 2006 Nov 30. J Invest Dermatol. 2007. PMID: 17139268 Free article.
Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.
De Lonlay P, Mugnier C, Sanlaville D, Chantrel-Groussard K, Bénit P, Lebon S, Chrétien D, Kadhom N, Saker S, Gyapay G, Romana S, Weissenbach J, Munnich A, Rustin P, Rötig A. De Lonlay P, et al. Among authors: saker s. Hum Mol Genet. 2002 Dec 15;11(26):3273-81. doi: 10.1093/hmg/11.26.3273. Hum Mol Genet. 2002. PMID: 12471054
Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene.
Clayton JS, Vo C, Crane J, Scriba CK, Saker S, Larmonier T, Malfatti E, Romero NB, Ravenscroft G, Laing NG, Taylor RL. Clayton JS, et al. Among authors: saker s. Stem Cell Res. 2024 Mar 30;77:103410. doi: 10.1016/j.scr.2024.103410. Online ahead of print. Stem Cell Res. 2024. PMID: 38583293 Free article.
70 results