Universität zu Köln

2022

Adamo, Christin S. ORCID: 0000-0002-8560-6153 (2022). Connective tissue pathways causative for cutis laxa. Thesis Abstract, Universität zu Köln.

Adamo, Christin S. ORCID: 0000-0002-8560-6153, Beyens, Aude, Schiavinato, Alvise, Keene, Douglas R., Tufa, Sara F., Morgelin, Matthias, Brinckmann, Jurgen, Sasaki, Takako, Niehoff, Anja, Dreiner, Maren, Pottie, Lore, Muino-Mosquera, Laura, Gulec, Elif Yilmaz, Gezdirici, Alper ORCID: 0000-0002-2432-9279, Braghetta, Paola, Bonaldo, Paolo, Wagener, Raimund, Paulsson, Mats, Bornaun, Helen, De Rycke, Riet, De Bruyne, Michiel, Baeke, Femke, Devine, Walter P., Gangaram, Balram, Tam, Allison ORCID: 0000-0001-6940-9240, Balasubramanian, Meena ORCID: 0000-0003-1488-3695, Ellard, Sian, Moore, Sandra, Symoens, Sofie, Shen, Joseph, Cole, Stacey, Schwarze, Ulrike, Holmes, Kathryn W., Hayflick, Susan J., Wiszniewski, Wojciech, Nampoothiri, Sheela, Davis, Elaine C., Sakai, Lynn Y., Sengle, Gerhard and Callewaert, Bert (2022). EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis. Am. J. Hum. Genet., 109 (12). S. 2230 - 2254. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

2021

Adamo, Christin S. ORCID: 0000-0002-8560-6153, Zuk, Alexandra V. and Sengle, Gerhard (2021). The fibrillin microfibril/elastic fibre network: A critical extracellular supramolecular scaffold to balance skin homoeostasis. Exp. Dermatol., 30 (1). S. 25 - 38. HOBOKEN: WILEY. ISSN 1600-0625

Pottie, Lore ORCID: 0000-0001-5102-975X, Adamo, Christin S. ORCID: 0000-0002-8560-6153, Beyens, Aude, Luetke, Steffen, Tapaneeyaphan, Piyanoot, De Clercq, Adelbert ORCID: 0000-0003-2670-1684, Salmon, Phil L., De Rycke, Riet, Gezdirici, Alper ORCID: 0000-0002-2432-9279, Gulec, Elif Yilmaz, Khan, Naz, Urquhart, Jill E., Newman, William G., Metcalfe, Kay, Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Maroofian, Reza, Anwar, Najwa, Maqbool, Shazia, Rahman, Fatima, Altweijri, Ikhlass, Alsaleh, Monerah, Abdullah, Sawsan Mohamed, Al-Owain, Mohammad, Hashem, Mais, Houlden, Henry, Alkuraya, Fowzan S., Sips, Patrick ORCID: 0000-0001-9241-5980, Sengle, Gerhard and Callewaert, Bert ORCID: 0000-0002-9743-4205 (2021). Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome. Am. J. Hum. Genet., 108 (6). S. 1095 - 1115. CAMBRIDGE: CELL PRESS. ISSN 1537-6605