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GLRB is the third major gene of effect in hyperekplexia.
Chung SK, Bode A, Cushion TD, Thomas RH, Hunt C, Wood SE, Pickrell WO, Drew CJ, Yamashita S, Shiang R, Leiz S, Longardt AC, Raile V, Weschke B, Puri RD, Verma IC, Harvey RJ, Ratnasinghe DD, Parker M, Rittey C, Masri A, Lingappa L, Howell OW, Vanbellinghen JF, Mullins JG, Lynch JW, Rees MI. Chung SK, et al. Among authors: masri a. Hum Mol Genet. 2013 Mar 1;22(5):927-40. doi: 10.1093/hmg/dds498. Epub 2012 Nov 25. Hum Mol Genet. 2013. PMID: 23184146
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.
Chung SK, Vanbellinghen JF, Mullins JG, Robinson A, Hantke J, Hammond CL, Gilbert DF, Freilinger M, Ryan M, Kruer MC, Masri A, Gurses C, Ferrie C, Harvey K, Shiang R, Christodoulou J, Andermann F, Andermann E, Thomas RH, Harvey RJ, Lynch JW, Rees MI. Chung SK, et al. Among authors: masri a. J Neurosci. 2010 Jul 14;30(28):9612-20. doi: 10.1523/JNEUROSCI.1763-10.2010. J Neurosci. 2010. PMID: 20631190 Free PMC article.
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
Carta E, Chung SK, James VM, Robinson A, Gill JL, Remy N, Vanbellinghen JF, Drew CJ, Cagdas S, Cameron D, Cowan FM, Del Toro M, Graham GE, Manzur AY, Masri A, Rivera S, Scalais E, Shiang R, Sinclair K, Stuart CA, Tijssen MA, Wise G, Zuberi SM, Harvey K, Pearce BR, Topf M, Thomas RH, Supplisson S, Rees MI, Harvey RJ. Carta E, et al. Among authors: masri a. J Biol Chem. 2012 Aug 17;287(34):28975-85. doi: 10.1074/jbc.M112.372094. Epub 2012 Jun 14. J Biol Chem. 2012. PMID: 22700964 Free PMC article. Clinical Trial.
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
Bode A, Wood SE, Mullins JGL, Keramidas A, Cushion TD, Thomas RH, Pickrell WO, Drew CJG, Masri A, Jones EA, Vassallo G, Born AP, Alehan F, Aharoni S, Bannasch G, Bartsch M, Kara B, Krause A, Karam EG, Matta S, Jain V, Mandel H, Freilinger M, Graham GE, Hobson E, Chatfield S, Vincent-Delorme C, Rahme JE, Afawi Z, Berkovic SF, Howell OW, Vanbellinghen JF, Rees MI, Chung SK, Lynch JW. Bode A, et al. Among authors: masri a. J Biol Chem. 2013 Nov 22;288(47):33745-33759. doi: 10.1074/jbc.M113.509240. Epub 2013 Oct 9. J Biol Chem. 2013. PMID: 24108130 Free PMC article. Clinical Trial.
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, Begtrup A, Nowak C, Chatron N, Ville D, Mireskandari K, Milani P, Jonveaux P, Lemeur G, Milh M, Amamoto M, Kato M, Nakashima M, Miyake N, Matsumoto N, Masri A, Thauvin-Robinet C, Rivière JB, Faivre L, Thevenon J. Assoum M, et al. Among authors: masri a. Am J Hum Genet. 2016 Dec 1;99(6):1368-1376. doi: 10.1016/j.ajhg.2016.10.009. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889060 Free PMC article.
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U. Fischer-Zirnsak B, et al. Among authors: masri a. Am J Hum Genet. 2015 Sep 3;97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27. Am J Hum Genet. 2015. PMID: 26320891 Free PMC article.
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al Sharif H, Alamoudi W, Kentab A, Bashiri FA, Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh MM, AlSaman A, Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Osama Khalil R, Abd El Meguid N, Masri A, Ali R, Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Altassan N, Arold ST, Abouelhoda M, Wakil SM, Monies D, Shaheen R, Alkuraya FS. Anazi S, et al. Among authors: masri a. Mol Psychiatry. 2017 Apr;22(4):615-624. doi: 10.1038/mp.2016.113. Epub 2016 Jul 19. Mol Psychiatry. 2017. PMID: 27431290
434 results