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Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nürnberg P, Khokha MK, Hildebrandt F. Braun DA, et al. Among authors: baig sm. J Clin Invest. 2018 Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4. J Clin Invest. 2018. PMID: 30179222 Free PMC article.
Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS.
Farooq M, Troelsen JT, Boyd M, Eiberg H, Hansen L, Hussain MS, Rehman Su, Azhar A, Ali A, Bakhtiar SM, Tommerup N, Baig SM, Kjaer KW. Farooq M, et al. Among authors: baig sm. Eur J Hum Genet. 2010 Jun;18(6):733-6. doi: 10.1038/ejhg.2009.225. Epub 2010 Jan 13. Eur J Hum Genet. 2010. PMID: 20068592 Free PMC article.
Genetic heterogeneity in Pakistani microcephaly families.
Sajid Hussain M, Marriam Bakhtiar S, Farooq M, Anjum I, Janzen E, Reza Toliat M, Eiberg H, Kjaer KW, Tommerup N, Noegel AA, Nürnberg P, Baig SM, Hansen L. Sajid Hussain M, et al. Among authors: baig sm. Clin Genet. 2013 May;83(5):446-51. doi: 10.1111/j.1399-0004.2012.01932.x. Epub 2012 Aug 7. Clin Genet. 2013. PMID: 22775483
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
Hussain MS, Baig SM, Neumann S, Peche VS, Szczepanski S, Nürnberg G, Tariq M, Jameel M, Khan TN, Fatima A, Malik NA, Ahmad I, Altmüller J, Frommolt P, Thiele H, Höhne W, Yigit G, Wollnik B, Neubauer BA, Nürnberg P, Noegel AA. Hussain MS, et al. Among authors: baig sm. Hum Mol Genet. 2013 Dec 20;22(25):5199-214. doi: 10.1093/hmg/ddt374. Epub 2013 Aug 4. Hum Mol Genet. 2013. PMID: 23918663
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Khan MA, Rupp VM, Orpinell M, Hussain MS, Altmüller J, Steinmetz MO, Enzinger C, Thiele H, Höhne W, Nürnberg G, Baig SM, Ansar M, Nürnberg P, Vincent JB, Speicher MR, Gönczy P, Windpassinger C. Khan MA, et al. Among authors: baig sm. Hum Mol Genet. 2014 Nov 15;23(22):5940-9. doi: 10.1093/hmg/ddu318. Epub 2014 Jun 20. Hum Mol Genet. 2014. PMID: 24951542
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nürnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Müller R, Hoffmann I, Cormier-Daire V, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmüller J, Höhne W, Hurles ME, Noegel AA, Baig SM, Nürnberg P, Jackson AP. Martin CA, et al. Among authors: baig sm. Nat Genet. 2014 Dec;46(12):1283-1292. doi: 10.1038/ng.3122. Epub 2014 Oct 26. Nat Genet. 2014. PMID: 25344692 Free PMC article.
CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.
Sukumaran SK, Stumpf M, Salamon S, Ahmad I, Bhattacharya K, Fischer S, Müller R, Altmüller J, Budde B, Thiele H, Tariq M, Malik NA, Nürnberg P, Baig SM, Hussain MS, Noegel AA. Sukumaran SK, et al. Among authors: baig sm. Mol Genet Genomics. 2017 Apr;292(2):365-383. doi: 10.1007/s00438-016-1277-x. Epub 2016 Dec 21. Mol Genet Genomics. 2017. PMID: 28004182 Free PMC article.
Genetic heterogeneity in Pakistani microcephaly families revisited.
Ahmad I, Baig SM, Abdulkareem AR, Hussain MS, Sur I, Toliat MR, Nürnberg G, Dalibor N, Moawia A, Waseem SS, Asif M, Nagra H, Sher M, Khan MMA, Hassan I, Rehman SU, Thiele H, Altmüller J, Noegel AA, Nürnberg P. Ahmad I, et al. Among authors: baig sm. Clin Genet. 2017 Jul;92(1):62-68. doi: 10.1111/cge.12955. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 28004384
142 results