{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T17:13:06Z","timestamp":1777482786681,"version":"3.51.4"},"reference-count":45,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2020,5,13]],"date-time":"2020-05-13T00:00:00Z","timestamp":1589328000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004442","name":"National Science Centre, Poland","doi-asserted-by":"publisher","award":["2016\/23\/N\/NZ5\/02588"],"award-info":[{"award-number":["2016\/23\/N\/NZ5\/02588"]}],"id":[{"id":"10.13039\/501100004442","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004442","name":"National Science Centre, Poland","doi-asserted-by":"publisher","award":["N N402 591640 (5916\/B\/P01\/2011\/40)"],"award-info":[{"award-number":["N N402 591640 (5916\/B\/P01\/2011\/40)"]}],"id":[{"id":"10.13039\/501100004442","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004166","name":"Medical University of Warsaw","doi-asserted-by":"publisher","award":["1M15\/3G66"],"award-info":[{"award-number":["1M15\/3G66"]}],"id":[{"id":"10.13039\/501100004166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>ABCA4 gene mutations are the cause of a spectrum of ABCA4 retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. ABCA4 has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of ABCA4 variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles may be used for molecular analysis of the ABCA4 gene splice-site variants in patients with ABCA4 retinopathies. We assessed ABCA4 expression in hair follicles and skin at mRNA and protein levels by means of real-time PCR and Western blot analyses, respectively. We performed cDNA sequencing to reveal the presence of full-length ABCA4 transcripts and analyzed ABCA4 transcripts from three patients with Stargardt disease carrying different splice-site ABCA4 variants: c.5312+1G&gt;A, c.5312+2T&gt;G and c.5836-3C&gt;A. cDNA analysis revealed that c.5312+1G&gt;A, c.5312+2T&gt;G variants led to the skipping of exon 37, and the c.5836-3C&gt;A variant resulted in the insertion of 30 nucleotides into the transcript. Our results strongly argue for the use of hair follicles as a model for the molecular analysis of the pathogenicity of ABCA4 variants in patients with ABCA4 retinopathies.<\/jats:p>","DOI":"10.3390\/ijms21103430","type":"journal-article","created":{"date-parts":[[2020,5,14]],"date-time":"2020-05-14T02:55:41Z","timestamp":1589424941000},"page":"3430","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles"],"prefix":"10.3390","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0438-2678","authenticated-orcid":false,"given":"Aneta","family":"\u015acie\u017cy\u0144ska","sequence":"first","affiliation":[{"name":"Department of Histology and Embryology, Medical University of Warsaw, 02-004 Warsaw, Poland"},{"name":"Laboratory of Experimental Immunology, Military Institute of Hygiene and Epidemiology, 01-163 Warsaw, Poland"},{"name":"Center for Preclinical Research and Technology, Medical University of Warsaw, 02-097 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Soszy\u0144ska","sequence":"additional","affiliation":[{"name":"Laboratory of Experimental Immunology, Military Institute of Hygiene and Epidemiology, 01-163 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6222-9992","authenticated-orcid":false,"given":"Micha\u0142","family":"Komorowski","sequence":"additional","affiliation":[{"name":"Laboratory of Experimental Immunology, Military Institute of Hygiene and Epidemiology, 01-163 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Podg\u00f3rska","sequence":"additional","affiliation":[{"name":"Molecular Biology Laboratory, Department of Medical Biology, Cardinal Stefan Wyszy\u0144ski Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Krze\u015bniak","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery, Medical Centre for Postgraduate Education, 00-416 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandra","family":"Nogowska","sequence":"additional","affiliation":[{"name":"Department of Histology and Embryology, Medical University of Warsaw, 02-004 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martyna","family":"Smoli\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Histology and Embryology, Medical University of Warsaw, 02-004 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamil","family":"Szulborski","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Medical University of Warsaw, 03-709 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacek P.","family":"Szaflik","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Medical University of Warsaw, 03-709 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2231-2182","authenticated-orcid":false,"given":"Bart\u0142omiej","family":"Noszczyk","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery, Medical Centre for Postgraduate Education, 00-416 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4216-9141","authenticated-orcid":false,"given":"Monika","family":"O\u0142dak","sequence":"additional","affiliation":[{"name":"Department of Histology and Embryology, Medical University of Warsaw, 02-004 Warsaw, Poland"},{"name":"Center for Preclinical Research and Technology, Medical University of Warsaw, 02-097 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5371-8476","authenticated-orcid":false,"given":"Jacek","family":"Malejczyk","sequence":"additional","affiliation":[{"name":"Department of Histology and Embryology, Medical University of Warsaw, 02-004 Warsaw, Poland"},{"name":"Laboratory of Experimental Immunology, Military Institute of Hygiene and Epidemiology, 01-163 Warsaw, Poland"},{"name":"Center for Preclinical Research and Technology, Medical University of Warsaw, 02-097 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,5,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/978-1-4419-5635-4_8","article-title":"The ATP-binding cassette transporter ABCA4: Structural and functional properties and role in retinal disease","volume":"703","author":"Tsybovsky","year":"2010","journal-title":"Adv. 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