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Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.
Bigoni S, Neri M, Scotton C, Farina R, Sabatelli P, Jiang C, Zhang J, Falzarano MS, Rossi R, Ognibene D, Selvatici R, Gualandi F, Bosshardt D, Perri P, Campa C, Brancati F, Salvatore M, De Stefano MC, Taruscio D, Trombelli L, Fang M, Ferlini A. Bigoni S, et al. Among authors: zhang j. Front Genet. 2019 Jan 21;9:723. doi: 10.3389/fgene.2018.00723. eCollection 2018. Front Genet. 2019. PMID: 30740127 Free PMC article.
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.
Lamperti C, Fang M, Invernizzi F, Liu X, Wang H, Zhang Q, Carrara F, Moroni I, Zeviani M, Zhang J, Ghezzi D. Lamperti C, et al. Among authors: zhang q, zhang j. Mol Genet Metab. 2012 Nov;107(3):403-8. doi: 10.1016/j.ymgme.2012.08.020. Epub 2012 Sep 7. Mol Genet Metab. 2012. PMID: 23010432 Free PMC article.
Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the Zfp644 mimic human disease phenotype.
Szczerkowska KI, Petrezselyova S, Lindovsky J, Palkova M, Dvorak J, Makovicky P, Fang M, Jiang C, Chen L, Shi M, Liu X, Zhang J, Kubik-Zahorodna A, Schuster B, Beck IM, Novosadova V, Prochazka J, Sedlacek R. Szczerkowska KI, et al. Among authors: zhang j. Cell Biosci. 2019 Feb 21;9:21. doi: 10.1186/s13578-019-0280-4. eCollection 2019. Cell Biosci. 2019. PMID: 30834109 Free PMC article.
FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome.
Wang Y, Garraoui A, Zeng L, Lai M, He F, Wang H, Jiang C, Chen Y, Dai L, Fan N, Yang H, Zhang J, Liu X. Wang Y, et al. Among authors: zhang j. Oncotarget. 2017 Sep 30;8(49):86718-86725. doi: 10.18632/oncotarget.21415. eCollection 2017 Oct 17. Oncotarget. 2017. PMID: 29156830 Free PMC article.
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.
Melchionda L, Fang M, Wang H, Fugnanesi V, Morbin M, Liu X, Li W, Ceccherini I, Farina L, Savoiardo M, D'Adamo P, Zhang J, Costa A, Ravaglia S, Ghezzi D, Zeviani M. Melchionda L, et al. Among authors: zhang j. Orphanet J Rare Dis. 2013 May 1;8:66. doi: 10.1186/1750-1172-8-66. Orphanet J Rare Dis. 2013. PMID: 23634874 Free PMC article.
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.
Olgiati S, Quadri M, Fang M, Rood JP, Saute JA, Chien HF, Bouwkamp CG, Graafland J, Minneboo M, Breedveld GJ, Zhang J; International Parkinsonism Genetics Network; Verheijen FW, Boon AJ, Kievit AJ, Jardim LB, Mandemakers W, Barbosa ER, Rieder CR, Leenders KL, Wang J, Bonifati V. Olgiati S, et al. Among authors: zhang j. Ann Neurol. 2016 Feb;79(2):244-56. doi: 10.1002/ana.24553. Epub 2016 Jan 14. Ann Neurol. 2016. PMID: 26528954
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