Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm. Jelsig AM, Urban Z, Hucthagowder V, Nissen H, Ousager LB. European Journal of Medical Genetics. 2017 Feb;60(2):110-113.

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. Callewaert B, Su CT, Van Damme T, Vlummens P, Malfait F, Vanakker O, Schulz B, Mac Neal M, Davis EC, Lee JG, Salhi A, Unger S, Heimdal K, De Almeida S, Kornak U, Gaspar H, Bresson JL, Prescott K, Gosendi ME, Mansour S, Piérard GE, Madan-Khetarpal S, Sciurba FC, Symoens S, Coucke PJ, Van Maldergem L, Urban Z, De Paepe A. Hum Mutat. 2013 Jan;34(1):111-21.

The complexity of elastic fiber biogenesis: the paradigm of cutis laxa. Urban Z. Journal of Investigative Dermatology. 2012;132(E1):E12-4.

The complexity of elastic fibre biogenesis in the skin - a perspective to the clinical heterogeneity of cutis laxa. Uitto J, Li Q, Urban Z. Experimental Dermatology. 2012 Sep 13 [Epub ahead of print].

Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa. Sugitani H, Hirano E, Knutsen RH, Shifren A, Wagenseil JE, Ciliberto C, Kozel BA, Urban Z, Davis EC, Broekelmann TJ, Mecham RP. J Biol Chem. 2012 Jun 22;287(26):22055-67.

Cutis Laxa: A Review. Berk DR, Bentley DD, Bayliss SJ, Lind A, Urban Z. Journal of the American Academy of Dermatology. 2012 May;66(5):842.e1-17.

GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling. Andy Willaert, Sandeep Khatri, Bert L. Callewaert, Paul J. Coucke, Seth D. Crosby, Joseph G. H. Lee, Elaine C. Davis, Sruti Shiva, Michael Tsang, Anne De Paepe, Zsolt Urban. Hum Mol Genet. 2012 Mar 15;21(6):1248-59.

EFEMP2-Related Cutis Laxa. Loeys B, De Paepe A, Urban Z. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2011 May 12.

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Bert Callewaert, Marjolijn Renard, Vishwanathan Hucthagowder, Beate Albrecht, Ingrid Hausser, Edward Blair, Cristina Dias, Alice Albino, Hiroshi Wachi, Fumiaki Sato, Robert P Mecham, Bart Loeys, Paul J Coucke, Anne De Paepe, Zsolt Urban. Hum. Mutat. 2011 Apr;32:445-55.

Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome? Nicola Brunetti-Pierri, Pasquale Piccolo, Eva Morava, Ron A Wevers, Megan McGuirk, Yvette R Johnson, Zsolt Urban, Megan K Dishop, Lorraine Potocki. Clin. Dysmorphol. 2011 Apr;20:77-81.

Mechanisms of emphysema in autosomal dominant cutis laxa. Qirui Hu, Adrian Shifren, Carla Sens, Jiwon Choi, Zoltan Szabo, Barry C Starcher, Russell H Knutsen, J Michael Shipley, Elaine C Davis, Robert P Mecham, Zsolt Urban. Matrix Biol. 2010 Sep;29:621-8.

Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. Zsolt Urban, Vishwanathan Hucthagowder, Nura Schürmann, Vesna Todorovic, Lior Zilberberg, Jiwon Choi, Carla Sens, Chester W Brown, Robin D Clark, Kristen E Holland, Michael Marble, Lynn Y Sakai, Branka Dabovic, Daniel B Rifkin, Elaine C Davis. Am. J. Hum. Genet. 2009 Nov;85:593-605.
Free Article available at: PMC2775835

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Vishwanathan Hucthagowder, Eva Morava, Uwe Kornak, Dirk J Lefeber, Bjoern Fischer, Aikaterini Dimopoulou, Annika Aldinger, Jiwon Choi, Elaine C Davis, Dianne N Abuelo, Maciej Adamowicz, Jumana Al-Aama, Lina Basel-Vanagaite, Bridget Fernandez, Marie T Greally, Gabriele Gillessen-Kaesbach, Hulya Kayserili, Emmanuelle Lemyre, Mustafa Tekin, Seval Türkmen, Beyhan Tuysuz, Berrin Yüksel-Konuk, Stefan Mundlos, Lionel Van Maldergem, Ron A Wevers, Zsolt Urban. Hum. Mol. Genet. 2009 Jun;18:2149-65.
Free Article available at: PMC2685755

DANCE/fibulin-5 promotes elastic fiber formation in a tropoelastin isoform-dependent manner. Risa Nonaka, Satoshi Onoue, Hiroshi Wachi, Fumiaki Sato, Zsolt Urban, Barry C Starcher, Yoshiyuki Seyama. Clin. Biochem. 2009 May;42:713-21.

Decreased bone density and treatment in patients with autosomal recessive cutis laxa. C Noordam, S Funke, N V Knoers, P Jira, R A Wevers, Z Urban, E Morava. Acta Paediatr. 2009 Mar;98:490-4.

Characterization of the molecular interaction between tropoelastin and DANCE/fibulin-5. Hiroshi Wachi, Risa Nonaka, Fumiaki Sato, Kayoko Shibata-Sato, Marie Ishida, Saori Iketani, Iori Maeda, Koji Okamoto, Zsolt Urban, Satoshi Onoue, Yoshiyuki Seyama. J. Biochem. 2008 May;143:633-9.

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. E Morava, D J Lefeber, Z Urban, L de Meirleir, P Meinecke, G Gillessen Kaesbach, J Sykut-Cegielska, M Adamowicz, I Salafsky, J Ranells, E Lemyre, J van Reeuwijk, H G Brunner, R A Wevers. Eur. J. Hum. Genet. 2008 Jan;16:28-35.

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Kornak U, Reynders E, Dimopoulou A, Van Reeuwijk J, Fischer B, Rajab A, Budde B, Nuernberg P, Foulquier F, The ARCL Debré-type Study Group, Lefeber D, Urban Z, Gruenewald S, Annaert W, Van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S. Nat Genet. 2008 Jan;40(1):32-4.

Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. Qirui Hu, Bart L Loeys, Paul J Coucke, Anne De Paepe, Robert P Mecham, Jiwon Choi, Elaine C Davis, Zsolt Urban. Hum. Mol. Genet. 2006 Dec;15:3379-86.

Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Vishwanathan Hucthagowder, Nina Sausgruber, Katherine H Kim, Brad Angle, Lihua Y Marmorstein, Zsolt Urban. Am. J. Hum. Genet. 2006 Jun;78:1075-80.
Free Article available at: PMC1474103

Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes. Qirui Hu, Jean-Louis Reymond, Nicole Pinel, Marie-Therese Zabot, Zsolt Urban. J. Invest. Dermatol. 2006 Feb;126:283-90.

Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. Zsolt Urban, Jimin Gao, F Michael Pope, Elaine C Davis. J. Invest. Dermatol. 2005 Jun;124:1193-9.

Association of polymorphisms and haplotypes in the elastin gene in Dutch patients with sporadic aneurysmal subarachnoid hemorrhage. Y M Ruigrok, U Seitz, S Wolterink, G J E Rinkel, C Wijmenga, Z Urban. Stroke. 2004 Sep;35:2064-8.

Genetic disorders of the elastic fiber system. D M Milewicz, Z Urbán, C Boyd. Matrix Biol. 2000 Nov;19:471-80.

Elastic-fiber pathologies: primary defects in assembly-and secondary disorders in transport and delivery. Z Urbán, C D Boyd. Am. J. Hum. Genet. 2000 Jul;67:4-7.
Free Article available at: PMC1287100

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Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). Skidmore DL, Chitayat D, Morgan T, Hinek A, Fischer B, Dimopoulou A, Somers G, Halliday W, Blaser S, Diambomba Y, Lemire EG, Kornak U, Robertson SP. Am J Med Genet A. 2011 Aug;155A(8):1848-56

Mutations in PYCR1 cause cutis laxa with progeroid features. Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U. Nat Genet. 2009 Sep;41(9):1016-21.

RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Basel-Vanagaite L, Sarig O, Hershkovitz D, et al. Am J Hum Genet. 2009 Aug;85(2):254-63.

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2Guernsey DL, Jiang H, Evans SC, Ferguson M, Matsuoka M, Nightingale M, Rideout AL, Provost S, Bedard K, Orr A, Dubé MP, Ludman M, Samuels ME. Am J Hum Genet. 2009 Jul;85(1):120-9.

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. Bicknell LS, Pitt J, Aftimos S, Ramadas R, Maw MA, Robertson SP. Eur J Hum Genet. 2008 Oct;16(10):1176-86.

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A. Nat Genet. 2006 Apr;38(4):452-7.

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Loeys B, Van Maldergem L, Mortier G, Coucke P, Gerniers S, Naeyaert JM, De Paepe A. Hum. Mol. Genet. 2002;11:2113-2118.

A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in menkes disease. Dagenais SL, Adam AN, Innis JW, Glover TW et al. Am J Hum Genet. 2001 Aug;69(2):420-7.

Similar splice-site mutations in ATP7A gene lead to different phenotypes: classifcal menkes disease or occipital horn syndrome. Moller, LB, Tumer Z, Lund C et al. Am J Hum Genet. 2000 Apr;66(4):1211-20.

The dominant and recessive forms of cutis laxa. Beighton P. J. Med. Genet. 1972; 9:216-221.

Generalized acquired cutis laxa associated with multiple myeloma with biphenotypic IgG-A and IgA-K gammopathy following treatment of a nodal plasmacytoma. New HD and Callen JP. Arch Dermatol. 2011 Mar;147(3):323-8.

Acquired cutis laxa associated with heavy chain deposition disease. Harrington CR, Beswick TC, Susa JS, Pandya AG. J Am Acad Dermatol. 2008 Nov;59(5 Suppl):S99-101.

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