Below are the most recent publications written about "Cutis Laxa" by people in Profiles.
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Lucas AT, Lin AE, Cohen A, Mu?oz W, Kahle KT, Shin JH, Buch K, Sahai I, Carroll RW. Atlantoaxial instability associated with ALDH18A1 mutation. Am J Med Genet A. 2023 12; 191(12):2898-2902.
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Mazaheri M, Jahantigh HR, Yavari M, Mirjalili SR, Vahidnezhad H. Autosomal recessive cutis laxa type 1C with a homozygous LTBP4 splicing variant: a case report and update of literature. Mol Biol Rep. 2022 May; 49(5):4135-4140.
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Onoufriadis A, Nanda A, Sheriff A, Tomita K, Gomaa NS, Simpson MA, McGrath JA. Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1). JAMA Dermatol. 2019 02 01; 155(2):257-259.
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Halabi CM, Broekelmann TJ, Lin M, Lee VS, Chu ML, Mecham RP. Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries. Sci Adv. 2017 May; 3(5):e1602532.
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Vahidnezhad H, Karamzadeh R, Saeidian AH, Youssefian L, Sotoudeh S, Zeinali S, Vasei M, Golnabi F, Baghdadi T, Uitto J. Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability. J Invest Dermatol. 2017 02; 137(2):525-528.
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Sasaki T, Hanisch FG, Deutzmann R, Sakai LY, Sakuma T, Miyamoto T, Yamamoto T, Hannappel E, Chu ML, Lanig H, von der Mark K. Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa. Matrix Biol. 2016 12; 56:132-149.
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Igoucheva O, Alexeev V, Halabi CM, Adams SM, Stoilov I, Sasaki T, Arita M, Donahue A, Mecham RP, Birk DE, Chu ML. Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities. J Biol Chem. 2015 Aug 28; 290(35):21443-59.
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Uitto J, Li Q, Urban Z. The complexity of elastic fibre biogenesis in the skin--a perspective to the clinical heterogeneity of cutis laxa. Exp Dermatol. 2013 Feb; 22(2):88-92.
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Dasouki M, Markova D, Garola R, Sasaki T, Charbonneau NL, Sakai LY, Chu ML. Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. Am J Med Genet A. 2007 Nov 15; 143A(22):2635-41.
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Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, Timpl R, Uitto J, Chu ML. Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. Am J Hum Genet. 2003 Apr; 72(4):998-1004.