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1. Full Text Cutis laxa: A review
by Berk, David R., MD and Bentley, Danette D., MD and Bayliss, Susan J., MD and Lind, Anne, MD and Urban, Zsolt, PhD
Journal of the American Academy of Dermatology, ISSN 0190-9622, 2011, Volume 66, Issue 5, pp. 842.e1 - 842.e17
Cutis laxa is a rare disorder of elastic tissue resulting in loose, redundant, hypoelastic skin. Both acquired and inherited forms exist, some of which have... 
Dermatology | genodermatosis | cutis laxa | elastin | fibulin-4 | elastic tissue | fibulin-5 | OCCIPITAL-HORN-SYNDROME | SPLICE-SITE MUTATIONS | BETA-BINDING-PROTEINS | WRINKLY SKIN SYNDROME | DE-BARSY-SYNDROME | AUTOSOMAL-RECESSIVE FORM | DERMATOLOGY | EXTRACELLULAR-MATRIX PROTEINS | CAUSE PSEUDOXANTHOMA ELASTICUM | ARTERIAL-TORTUOSITY-SYNDROME | EHLERS-DANLOS-SYNDROME | Immunohistochemistry | Severity of Illness Index | Prognosis | Risk Assessment | Extracellular Matrix Proteins - genetics | Humans | Cutis Laxa - epidemiology | Male | Cutis Laxa - genetics | Incidence | Elastic Tissue - pathology | Abnormalities, Multiple - diagnosis | Abnormalities, Multiple - epidemiology | Female | Biopsy, Needle | Genetic Predisposition to Disease - epidemiology | Cutis Laxa - pathology | Abnormalities, Multiple - genetics | Transforming growth factors | Skin | Universities and colleges
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2. Full Text A case of generalized acquired cutis laxa
by Kim, Sung M and Lee, Suk Y and Kim, Jong B and Choi, Hoo M and Ro, Byung I and Cho, Han K and Ko, Eun J
International Journal of Dermatology, ISSN 0011-9059, 11/2018, Volume 57, Issue 11, pp. 1369 - 1371
FACE | DERMATOLOGY | Male | Cutis Laxa - pathology | Humans | Middle Aged | Cutis Laxa - diagnosis | Skin
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3. Full Text Molecular mechanisms of cutis laxa- and distal renal tubular acidosis-causing mutations in V-ATPase a subunits, ATP6V0A2 and ATP6V0A4
by Esmail, Sally and Kartner, Norbert and Yao, Yeqi and Kim, Joo Wan and Reithmeier, Reinhart A. F and Manolson, Morris F
Journal of Biological Chemistry, ISSN 0021-9258, 2018, Volume 293, Issue 8, pp. 2787 - 2800
The a subunit is the largest of 15 different subunits that make up the vacuolar H+-ATPase (V-ATPase) complex, where it functions in proton translocation. In... 
TOPOLOGY | TRANSPORT | ISOFORMS | N-LINKED GLYCOSYLATION | MEMBRANE | BIOCHEMISTRY & MOLECULAR BIOLOGY | COMPLEXES | ACIDIFICATION | OSTEOPETROSIS | VACUOLAR H+-ATPASE | Golgi Apparatus - enzymology | Vacuolar Proton-Translocating ATPases - genetics | Kidney - pathology | Humans | Kidney - enzymology | Protein Multimerization | Acidosis, Renal Tubular - genetics | Endoplasmic Reticulum - metabolism | Golgi Apparatus - pathology | Mutation, Missense | Recombinant Fusion Proteins - metabolism | Vacuolar Proton-Translocating ATPases - metabolism | Proton-Translocating ATPases - metabolism | Endoplasmic Reticulum - pathology | Kidney - metabolism | Proton-Translocating ATPases - genetics | Proteolysis | Acidosis, Renal Tubular - pathology | Cell Membrane - pathology | HEK293 Cells | Cell Membrane - metabolism | Protein Interaction Domains and Motifs | Cutis Laxa - metabolism | Endoplasmic Reticulum - enzymology | Enzyme Stability | Models, Molecular | Cutis Laxa - genetics | Glycosylation | Recombinant Fusion Proteins - chemistry | Acidosis, Renal Tubular - metabolism | Protein Transport | Proton-Translocating ATPases - chemistry | Cell Membrane - enzymology | Vacuolar Proton-Translocating ATPases - chemistry | Golgi Apparatus - metabolism | Protein Processing, Post-Translational | Proteasome Endopeptidase Complex - metabolism | Cutis Laxa - pathology | Amino Acid Substitution | Molecular Bases of Disease | 3D modeling | proton pump | ATPase | ER-associated degradation | membrane protein | trafficking | N-glycosylation | protein degradation
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4. Cutis laxa
by Mohamed, Miski and Voet, Michiel and Gardeitchik, Thatjana and Morava, Eva
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2014, Volume 802, pp. 161 - 184
Cutis laxa is an inherited or acquired disease characterized by redundant, sagging and inelastic skin. In inherited cutis laxa an abnormal synthesis of... 
Cutis Laxa - classification | Skin - metabolism | Extracellular Matrix Proteins - genetics | Humans | Gene Expression Regulation | Terminology as Topic | Cutis Laxa - genetics | Mitochondrial Proteins - genetics | Cutis Laxa - diagnosis | Inheritance Patterns | Carrier Proteins - genetics | Pedigree | Mutation | Cutis Laxa - pathology | Skin - pathology | Practice Guidelines as Topic
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5. Full Text Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
by Fischer-Zirnsak, Björn and Escande-Beillard, Nathalie and Ganesh, Jaya and Tan, Yu Xuan and Al Bughaili, Mohammed and Lin, Angela E and Sahai, Inderneel and Bahena, Paulina and Reichert, Sara L and Loh, Abigail and Wright, Graham D and Liu, Jaron and Rahikkala, Elisa and Pivnick, Eniko K and Choudhri, Asim F and Krüger, Ulrike and Zemojtel, Tomasz and van Ravenswaaij-Arts, Conny and Mostafavi, Roya and Stolte-Dijkstra, Irene and Symoens, Sofie and Pajunen, Leila and Al-Gazali, Lihadh and Meierhofer, David and Robinson, Peter N and Mundlos, Stefan and Villarroel, Camilo E and Byers, Peter and Masri, Amira and Robertson, Stephen P and Schwarze, Ulrike and Callewaert, Bert and Reversade, Bruno and Kornak, Uwe
The American Journal of Human Genetics, ISSN 0002-9297, 09/2015, Volume 97, Issue 3, pp. 483 - 492
Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by... 
P5CS | progeroid syndrome | cutis laxa | proline metabolism | mitochondria | pyrroline-5-carboxylate synthase | PYCR1 | De Barsy syndrome | ALDH18A1 | Amino Acid Sequence | Species Specificity | Proline - metabolism | Humans | Intellectual Disability - pathology | Molecular Sequence Data | Cutis Laxa - genetics | Corneal Opacity - genetics | Sequence Analysis, DNA | Mutation, Missense - genetics | Intellectual Disability - genetics | Sequence Alignment | Corneal Opacity - pathology | Pedigree | Base Sequence | Ornithine-Oxo-Acid Transaminase - genetics | Cutis Laxa - pathology | Genes, Dominant - genetics | Skin - pathology | Physiological aspects | Genetic disorders | Gene mutations | Observations | Report
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6. Full Text New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of five ELN mutations
by Callewaert, Bert and Renard, Marjolijn and Hucthagowder, Vishwanathan and Albrecht, Beate and Hausser, Ingrid and Blair, Edward and Dias, Cristina and Albino, Alice and Wachi, Hiroshi and Sato, Fumiaki and Mecham, Robert P and Loeys, Bart and Coucke, Paul J and De Paepe, Anne and Urban, Zsolt
Human Mutation, ISSN 1059-7794, 04/2011, Volume 32, Issue 4, pp. 445 - 455
Autosomal dominant cutis laxa (ADCL) is characterized by a typical facial appearance and generalized loose skin folds, occasionally associated with aortic root... 
skin | aneurysm | connective tissue | ELN | emphysema | Connective tissue | CL | Skin | Emphysema | Aneurysm | TERMINAL DOMAIN | FORM | OCCIPITAL HORN SYNDROME | ELASTIC FIBER FORMATION | BINDING PROTEIN | GENE | MARFAN-SYNDROME | GENETICS & HEREDITY | MISSENSE MUTATION | EXTRACELLULAR-MATRIX | TROPOELASTIN | Humans | Child, Preschool | Male | Chromosome Disorders | Cutis Laxa - genetics | Elastic Tissue - metabolism | Elastic Tissue - pathology | Transforming Growth Factor beta - genetics | Elastin - genetics | Tropoelastin - genetics | Tropoelastin - metabolism | Adolescent | Female | Mutation | Child | Cutis Laxa - pathology | Transforming Growth Factor beta - metabolism
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7. Full Text Fibulin-4: A Novel Gene for an Autosomal Recessive Cutis Laxa Syndrome
by Hucthagowder, Vishwanathan and Sausgruber, Nina and Kim, Katherine H and Angle, Brad and Marmorstein, Lihua Y and Urban, Zsolt
The American Journal of Human Genetics, ISSN 0002-9297, 2006, Volume 78, Issue 6, pp. 1075 - 1080
Cutis laxa is a condition characterized by redundant, pendulous, and inelastic skin. We identified a patient with recessive inheritance of a missense mutation... 
ELASTOGENESIS | ELASTIN GENE | FORM | MARFAN-SYNDROME | IN-VIVO | DISEASE | GENETICS & HEREDITY | MUTATIONS | TROPOELASTIN | Amino Acid Sequence | Extracellular Matrix Proteins - genetics | Humans | Child, Preschool | Molecular Sequence Data | Male | Cutis Laxa - genetics | Mutation, Missense | Genes, Recessive | Syndrome | Adult | Female | Cutis Laxa - pathology | Abnormalities, Multiple - genetics | Skin - pathology | Fibula | Cutis laxa | Genetic aspects | Research | Gene mutations | Report
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8. Full Text The complexity of elastic fibre biogenesis in the skin – a perspective to the clinical heterogeneity of cutis laxa
by Uitto, Jouni and Li, Qiaoli and Urban, Zsolt
Experimental Dermatology, ISSN 0906-6705, 02/2013, Volume 22, Issue 2, pp. 88 - 92
Elastic fibres are critical connective tissue components providing elasticity and resilience to skin and other tissues. These fibres are composed of elastin... 
elastic fibre assembly | cutis laxa | heritable skin diseases | microfibrillar proteins | elastin | Elastic fibre assembly | Heritable skin diseases | Cutis laxa | Microfibrillar proteins | Elastin | ACQUIRED DISORDERS | LYSYL OXIDASE | SUPRAVALVULAR AORTIC-STENOSIS | PSEUDOXANTHOMA ELASTICUM | ARTERIAL TORTUOSITY SYNDROME | DERMATOLOGY | EXON 26A | IN-VIVO | MISSENSE MUTATION | EXTRACELLULAR-MATRIX | DELTA-PYRROLINE-5-CARBOXYLATE SYNTHASE P5CS | Chromosomes, Human, X - genetics | Humans | Microfibrils - pathology | Mitochondria - metabolism | Arteries - pathology | Genes, Recessive | Cutis Laxa - diagnosis | Elastic Tissue - pathology | Phenotype | Elastin - genetics | Lung Diseases - complications | Lung Diseases - pathology | Mutation | Cutis Laxa - pathology | Skin - pathology | Skin diseases | Biosynthesis | Skin | Elastic fiber assembly
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9. Full Text Autosomal recessive cutis laxa syndrome revisited
by Morava, E and Guillard, M and Lefeber, D.J and Wevers, R.A
European Journal of Human Genetics, ISSN 1018-4813, 2009, Volume 17, Issue 9, pp. 1099 - 1110
The clinical spectrum of the autosomal recessive cutis laxa syndromes is highly heterogeneous with respect to organ involvement and severity. One of the major... 
GROWTH-RETARDATION | cutis laxa | MENTAL-RETARDATION | SPLICE-SITE MUTATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | OCCIPITAL HORN SYNDROME | gerodermia osteodysplastica | WRINKLY SKIN SYNDROME | DEVELOPMENTAL DELAY | GLYCOSYLATION | congenital disorders of glycosylation | De Barsy Syndrome | wrinkled skin | GENETICS & HEREDITY | ATP6V0A2 | CONGENITAL DISORDERS | DEFICIENCY REVEALS | Cutis Laxa - classification | Prognosis | Skin - metabolism | Humans | Cutis Laxa - genetics | Glycosylation | Skin Aging | Genes, Recessive | Syndrome | Proton-Translocating ATPases - genetics | Mutation | Skin - physiopathology | Cutis Laxa - pathology | Skin - pathology | Phenotypes | Congenital diseases | Elastin | Biosynthesis | Microcephaly | Metabolism | Defects | Fibers | Dwarfism | Proteins | Polysaccharides | Etiology | Genetics | Extracellular matrix | Skin | Diagnosis | Genotypes | Practical Genetics
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10. Full Text Further characterization of ATP6V0A2-related autosomal recessive cutis laxa
by Fischer, B and Dimopoulou, A and Egerer, J and Gardeitchik, T and Kidd, A and Jost, D and Kayserili, H and Alanay, Y and Tantcheva-Poor, I and Mangold, E and Daumer-Haas, C and Phadke, S and Peirano, R.I and Heusel, J and Desphande, C and Gupta, N and Nanda, A and Felix, E and Berry-Kravis, E and Kabra, M and Wevers, R.A and van Maldergem, L and Mundlos, S and Morava, E and Kornak, U
Human Genetics, ISSN 0340-6717, 2012, Volume 131, Issue 11, pp. 1761 - 1773
Autosomal recessive cutis laxa (ARCL) syndromes are phenotypically overlapping, but genetically heterogeneous disorders. Mutations in the ATP6V0A2 gene were... 
Gene Function | Human Genetics | Molecular Medicine | Biomedicine | Metabolic Diseases | VACUOLAR (H+)-ATPASES | CELLS | GENE | DISEASE | GENETICS & HEREDITY | MISSENSE MUTATION | H+-ATPASE | PROTEIN GLYCOSYLATION | BRAIN DYSGENESIS | ALTERED GLYCOSYLATION | DEBRE TYPE | Skin - metabolism | Golgi Apparatus - drug effects | Humans | Transforming Growth Factor beta1 - metabolism | Child, Preschool | Brefeldin A - pharmacology | Infant | Male | Protein Transport - drug effects | Glycosylation - drug effects | Young Adult | Proton-Translocating ATPases - genetics | Adult | Protein Synthesis Inhibitors - pharmacology | Real-Time Polymerase Chain Reaction | Skin - pathology | Fibroblasts - metabolism | Cutis Laxa - metabolism | Cutis Laxa - congenital | Enzyme-Linked Immunosorbent Assay | RNA, Messenger - genetics | Cells, Cultured | Cutis Laxa - genetics | Fibroblasts - pathology | Mutation - genetics | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | Fibroblasts - drug effects | Adolescent | Fluorescent Antibody Technique | Golgi Apparatus - metabolism | Cutis Laxa - pathology | Skin - drug effects | Apoptosis | Pregnant women | Genes | Skin | Children | Universities and colleges | Transforming growth factors | Health aspects | Cells | Adenosine triphosphatase | Bone morphogenetic proteins | Chemical properties | Indexing in process
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11. Full Text ALDH18A1 -related cutis laxa syndrome with cyclic vomiting
by Nozaki, Fumihito and Kusunoki, Takashi and Okamoto, Nobuhiko and Yamamoto, Yuto and Miya, Fuyuki and Tsunoda, Tatsuhiko and Kosaki, Kenjiro and Kumada, Tomohiro and Shibata, Minoru and Fujii, Tatsuya
Brain & Development, ISSN 0387-7604, 2016, Volume 38, Issue 7, pp. 678 - 684
Abstract Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement.... 
Neurology | P5CS | R138 | ALDH18A1 | Cutis laxa syndrome | Cyclic vomiting | DIAGNOSIS | MANAGEMENT | NEURODEGENERATION | CLINICAL NEUROLOGY | MUTATION | DELTA-PYRROLINE-5-CARBOXYLATE SYNTHASE P5CS | BARSY-SYNDROME | MANIFESTATIONS | Brain - diagnostic imaging | Diagnosis, Differential | Blood Chemical Analysis | Face - abnormalities | Humans | Cutis Laxa - physiopathology | Aldehyde Dehydrogenase - genetics | Foot Deformities, Congenital - genetics | Male | Cutis Laxa - genetics | Vomiting - drug therapy | Syndrome | Vomiting - genetics | Brain - blood supply | Hand Deformities, Congenital - genetics | Vomiting - pathology | Vomiting - physiopathology | Child | Cutis Laxa - pathology | Cutis Laxa - drug therapy | Hand Deformities, Congenital - pathology | Foot Deformities, Congenital - pathology | Physiological aspects | Proline | Arginine | Mental illness | Analysis
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12. Full Text Acral localized acquired cutis laxa
by Martí, Nuria and Monteagudo, Carlos and Revert, Ángeles and Reig, Irela and Gámez, Lucía and Jordá, Esperanza
International Journal of Dermatology, ISSN 0011-9059, 08/2013, Volume 52, Issue 8, pp. 983 - 986
DERMATOLOGY | Hand Dermatoses - pathology | Biopsy | Humans | Middle Aged | Foot Dermatoses - pathology | Female | Cutis Laxa - pathology | Skin - pathology | Subcutaneous Tissue - pathology
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13. Full Text Retinitis Pigmentosa, Cutis Laxa, and Pseudoxanthoma Elasticum–Like Skin Manifestations Associated with GGCX Mutations
by Kariminejad, Mohamad H and Kariminejad, Ariana and Bozorgmehr, Bita and Najafi, Abdolhamid and Khoshaeen, Atefeh and Ghalandari, Maryam and Najmabadi, Hossein and Vanakker, Olivier M and Hosen, Mohammad J and Malfait, Fransiska and Quaglino, Daniela and Florijn, Ralph J and Bergen, Arthur A.B and Hennekam, Raoul C
Journal of Investigative Dermatology, ISSN 0022-202X, 09/2014, Volume 134, Issue 9, pp. 2331 - 2338
Gamma-glutamyl carboxylase (GGCX) mutations have been reported in patients with a pseudoxanthoma elasticum (PXE)–like phenotype, loose redundant skin, and... 
MOLECULAR-GENETICS | DEPENDENT CLOTTING FACTORS | ABCC6 GENE | BLOOD-COAGULATION FACTORS | COMBINED DEFICIENCY | PUTATIVE PATHOMECHANISMS | VITAMIN-K | PHENOTYPE | CALCIFICATION | REGION | DERMATOLOGY | RNA Splice Sites - genetics | Humans | Middle Aged | Retinitis Pigmentosa - genetics | Family Health | Male | Cutis Laxa - genetics | Pseudoxanthoma Elasticum - pathology | Vitamin K - metabolism | Young Adult | Carbon-Carbon Ligases - metabolism | Homozygote | Phenotype | Pedigree | Adolescent | Pseudoxanthoma Elasticum - genetics | Adult | Female | Heterozygote | Carbon-Carbon Ligases - genetics | Child | Cutis Laxa - pathology | Retinitis Pigmentosa - pathology | Skin - pathology
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14. Full Text Acquired Cutis Laxa Associated With Heavy Chain Deposition Disease Involving Dermal Elastic Fibers
by O’Malley, John T and D’Agati, Vivette D and Sherman, William H and Grossman, Marc E
JAMA Dermatology, ISSN 2168-6068, 11/2014, Volume 150, Issue 11, pp. 1192 - 1196
IMPORTANCE: Acquired cutis laxa is a rare cutaneous manifestation of hematologic malignancy. We report a case of γ heavy chain deposition disease (HCDD)... 
LIGHT | DERMATOLOGY | Elastic Tissue - pathology | Biopsy | Humans | Middle Aged | Female | Microscopy, Electron | Cutis Laxa - pathology | Heavy Chain Disease - pathology | Skin - pathology | Care and treatment | Usage | Plasma cells | Cutis laxa | Skin | Research | Risk factors
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