Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1984 2
1987 2
1989 2
1990 1
1991 1
1992 1
1995 1
2002 1
2008 1
2010 1
2011 2
2012 4
2013 3
2014 2
2015 3
2016 2
2017 5
2018 1
2019 3
2020 4
2021 2
2022 4
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

45 results

Results by year

Filters applied: . Clear all
Page 1
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Adamo CS, Beyens A, Schiavinato A, Keene DR, Tufa SF, Mörgelin M, Brinckmann J, Sasaki T, Niehoff A, Dreiner M, Pottie L, Muiño-Mosquera L, Gulec EY, Gezdirici A, Braghetta P, Bonaldo P, Wagener R, Paulsson M, Bornaun H, De Rycke R, De Bruyne M, Baeke F, Devine WP, Gangaram B, Tam A, Balasubramanian M, Ellard S, Moore S, Symoens S, Shen J, Cole S, Schwarze U, Holmes KW, Hayflick SJ, Wiszniewski W, Nampoothiri S, Davis EC, Sakai LY, Sengle G, Callewaert B. Adamo CS, et al. Among authors: schiavinato a. Am J Hum Genet. 2022 Dec 1;109(12):2230-2252. doi: 10.1016/j.ajhg.2022.10.010. Epub 2022 Nov 8. Am J Hum Genet. 2022. PMID: 36351433 Free PMC article.
LTBP1 promotes fibrillin incorporation into the extracellular matrix.
Przyklenk M, Georgieva VS, Metzen F, Mostert S, Kobbe B, Callewaert B, Sengle G, Brachvogel B, Mecham RP, Paulsson M, Wagener R, Koch M, Schiavinato A. Przyklenk M, et al. Among authors: schiavinato a. Matrix Biol. 2022 Jun;110:60-75. doi: 10.1016/j.matbio.2022.04.004. Epub 2022 Apr 19. Matrix Biol. 2022. PMID: 35452817
45 results