Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.
Sign Up to like & getrecommendations! Published in 2021 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-030-80614-9_13
Abstract: Cutis laxa (CL) syndromes are a large and heterogeneous group of rare connective tissue disorders that share loose redundant skin as a hallmark clinical feature, which reflects dermal elastic fiber fragmentation. Both acquired and congenital-Mendelian-… read more here.
Keywords: clinical molecular; homeostasis; laxa syndromes; cutis ... See more keywords
Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-017-0044-8
Abstract: Genetic syndromes associated with cutis laxa (CL) and wrinkled skin are multisystem disorders with progeroid features, including sagging, lax and wrinkled skin [1, 2]. Metabolic CL is genetically heterogeneous. We previously reported on the frequently… read more here.
Keywords: cdg; mim; glycosylation; cutis laxa ... See more keywords
Acquired Cutis Laxa on the Upper Eyelids and Earlobes: A Case Report and Literature Review
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DOI: 10.1055/s-0042-1748657
Abstract: Acquired cutis laxa is a rare disease. Owing to few reports on the condition, no statistical data have been produced. Cutis laxa is characterized by drooping skin, caused by decreased levels of dermal elastin, leading… read more here.
Keywords: case report; acquired cutis; cutis; cutis laxa ... See more keywords
In silico screening, molecular docking, and molecular dynamics studies of SNP-derived human P5CR mutants
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DOI: 10.1080/07391102.2016.1222967
Abstract: Pyrroline-5-carboxylate reductase (P5CR) encoded by PYCR1 gene is a housekeeping enzyme that catalyzes the reduction of P5C to proline using NAD(P)H as the cofactor. In this study, we used in silico approaches to examine the… read more here.
Keywords: p5cr; molecular dynamics; silico screening; snp derived ... See more keywords
A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review
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DOI: 10.1097/mcd.0000000000000179
Abstract: Autosomal dominant cutis laxa (ADCL, OMIM #123700) is a rare connective tissue disorder characterized by loose, redundant skin folds that may be apparent form birth or appear later in life. Most severely affected areas are… read more here.
Keywords: consanguineous family; autosomal dominant; cutis laxa; dominant cutis ... See more keywords
Postinflammatory cutis laxa in a child
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DOI: 10.1136/archdischild-2020-319662
Abstract: A previously healthy 4-year-old girl presented with excessive wrinkling of the skin of the face, neck, upper trunk and extremities. The girl had recurrent episodes of itchy, reddish, round erythematous plaques, which initially appeared over… read more here.
Keywords: laxa child; cutis laxa; postinflammatory cutis; face ... See more keywords
Generalized acquired cutis laxa and urticarial dermatosis associated with k-chain IgA micromolecular myeloma
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DOI: 10.4081/dr.2021.9146
Abstract: Cutis laxa (CL) is a group of rare cutaneous disease, inherited or acquired, characterized by inelastic, redundant, wrinkled, loose skin, with loss of elasticity and features of premature aging [...]. read more here.
Keywords: acquired cutis; cutis; laxa urticarial; generalized acquired ... See more keywords