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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: hayflick sj. 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.
A Brief History of NBIA Gene Discovery.
Hayflick SJ. Hayflick SJ. J Mov Disord. 2023 May;16(2):133-137. doi: 10.14802/jmd.23014. Epub 2023 Apr 26. J Mov Disord. 2023. PMID: 37096298 Free PMC article.
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.
Cavestro C, Morra F, Legati A, D'Amato M, Nasca A, Iuso A, Lubarr N, Morrison JL, Wheeler PG, Serra-Juhé C, Rodríguez-Santiago B, Turón-Viñas E, Prouteau C, Barth M, Hayflick SJ, Ghezzi D, Tiranti V, Di Meo I. Cavestro C, et al. Among authors: hayflick sj. Ann Clin Transl Neurol. 2024 Jun;11(6):1615-1629. doi: 10.1002/acn3.52079. Epub 2024 May 15. Ann Clin Transl Neurol. 2024. PMID: 38750253 Free PMC article.
A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?
Mollereau B, Hayflick SJ, Escalante R, Mauthe M, Papandreou A, Iuso A, Celle M, Aniorte S, Issa AR, Lasserre JP, Lesca G, Thobois S, Burger P, Walter L. Mollereau B, et al. Among authors: hayflick sj. Autophagy. 2023 Dec;19(12):3234-3239. doi: 10.1080/15548627.2023.2247314. Epub 2023 Aug 31. Autophagy. 2023. PMID: 37565733 Free PMC article.
SLC39A14 Deficiency.
Tuschl K, Gregory A, Meyer E, Clayton PT, Hayflick SJ, Mills PB, Kurian MA. Tuschl K, et al. Among authors: hayflick sj. 2017 May 25 [updated 2022 Dec 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2017 May 25 [updated 2022 Dec 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 28541650 Free Books & Documents. Review.
PKAN pathogenesis and treatment.
Hayflick SJ, Jeong SY, Sibon OCM. Hayflick SJ, et al. Mol Genet Metab. 2022 Nov;137(3):283-291. doi: 10.1016/j.ymgme.2022.09.011. Epub 2022 Oct 5. Mol Genet Metab. 2022. PMID: 36240582 Free PMC article. Review.
Coenzyme A precursors flow from mother to zygote and from microbiome to host.
Yu Y, van der Zwaag M, Wedman JJ, Permentier H, Plomp N, Jia X, Kanon B, Eggens-Meijer E, Buist G, Harmsen H, Kok J, Salles JF, Wertheim B, Hayflick SJ, Strauss E, Grzeschik NA, Schepers H, Sibon OCM. Yu Y, et al. Among authors: hayflick sj. Mol Cell. 2022 Jul 21;82(14):2650-2665.e12. doi: 10.1016/j.molcel.2022.05.006. Epub 2022 Jun 3. Mol Cell. 2022. PMID: 35662397 Free article.
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H. Yépez VA, et al. Among authors: hayflick sj. Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9. Genome Med. 2022. PMID: 35379322 Free PMC article.
108 results