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Mutations in FYCO1 identified in families with congenital cataracts.
Iqbal H, Khan SY, Zhou L, Irum B, Ali M, Ahmed MR, Shahzad M, Ali MH, Naeem MA, Riazuddin S, Hejtmancik JF, Riazuddin SA. Iqbal H, et al. Among authors: irum b. Mol Vis. 2020 Apr 28;26:334-344. eCollection 2020. Mol Vis. 2020. PMID: 32355443 Free PMC article.
Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.
Jiao X, Khan SY, Irum B, Khan AO, Wang Q, Kabir F, Khan AA, Husnain T, Akram J, Riazuddin S, Hejtmancik JF, Riazuddin SA. Jiao X, et al. Among authors: irum b. PLoS One. 2015 Sep 24;10(9):e0137973. doi: 10.1371/journal.pone.0137973. eCollection 2015. PLoS One. 2015. PMID: 26402864 Free PMC article.
Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.
Irum B, Khan SY, Ali M, Kaul H, Kabir F, Rauf B, Fatima F, Nadeem R, Khan AO, Al Obaisi S, Naeem MA, Nasir IA, Khan SN, Husnain T, Riazuddin S, Akram J, Eghrari AO, Riazuddin SA. Irum B, et al. PLoS One. 2016 Nov 4;11(11):e0162620. doi: 10.1371/journal.pone.0162620. eCollection 2016. PLoS One. 2016. PMID: 27814360 Free PMC article.
Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.
Irum B, Khan SY, Ali M, Daud M, Kabir F, Rauf B, Fatima F, Iqbal H, Khan AO, Al Obaisi S, Naeem MA, Nasir IA, Khan SN, Husnain T, Riazuddin S, Akram J, Eghrari AO, Riazuddin SA. Irum B, et al. PLoS One. 2016 Dec 9;11(12):e0167562. doi: 10.1371/journal.pone.0167562. eCollection 2016. PLoS One. 2016. PMID: 27936067 Free PMC article.
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.
Ali M, Khan SY, Rodrigues TA, Francisco T, Jiao X, Qi H, Kabir F, Irum B, Rauf B, Khan AA, Mehmood A, Naeem MA, Assir MZ, Ali MH, Shahzad M, Abu-Amero KK, Akram SJ, Akram J, Riazuddin S, Riazuddin S, Robinson ML, Baes M, Azevedo JE, Hejtmancik JF, Riazuddin SA. Ali M, et al. Among authors: irum b. Hum Genet. 2021 Apr;140(4):649-666. doi: 10.1007/s00439-020-02238-z. Epub 2021 Jan 2. Hum Genet. 2021. PMID: 33389129
15 results