Khokha, Mustafa Kezar - Yale University - Biological & Biomedical Sciences

个人简介

We are interested in how embryonic pattern is generated and the resultant congenital malformations that occur when patterning fails. During development, the egg must activate a cascade of genes in order to form our body structure and establish correct pattern along the body axes. We are deeply interested in the gene regulatory networks that are necessary to create critical signals in specific embryonic locations at appropriate developmental stages. These signals must be carefully orchestrated in order to generate forms that are essential to function and the overall fitness of the organism. Our main approach is gene discovery from patients with congenital malformations, and then study them in our rapid, human model, Xenopus tropicalis. Recently, the remarkable advances in human genetics/genomics is transforming our understanding of the causes of congenital malformations. Traditionally gene discovery in these patients was very challenging, but new sequencing technologies enable gene discovery in these patients. In human studies, we have identified many new genes and are analyzing their patterning mechanisms in Xenopus. Combining human genetics with a high-throughput model system has allowed us to discover new genetic mechanisms and novel understanding of how development proceeds. MD Northwestern University Medical School (1995) BS Northwestern University (1991) Fellow Molecular & Cell Biology, University of California, Berkeley Fellow Pediatric Critical Care, University of California, San Francisco Resident Resident Pediatrics, St. Louis Children's Hospital, 1995-98 Board Certification AB of Pediatrics, Pediatric Critical Care Medicine (2013)

研究领域

Embryo, Nonmammalian; Germ Layers; Notochord; Organizers, Embryonic; Neural Plate

近期论文

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The ribosome biogenesis factor Nol11 is required for optimal rDNA transcription and craniofacial development in Xenopus. Griffin JN, Sondalle SB, Del Viso F, Baserga SJ, Khokha MK. The ribosome biogenesis factor Nol11 is required for optimal rDNA transcription and craniofacial development in Xenopus. PLoS Genet. 2015 Mar 10;11(3):e1005018. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nat Genet. 2014 Oct;46(10):1135-9. The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality. Boskovski MT, Yuan S, Pedersen NB, Goth CK, Makova S, Clausen H, Brueckner M, Khokha MK. Nature. 2013 Dec 19;504(7480):456-9. Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Fakhro KA, Choi M, Ware SM, Belmont JW, Towbin JA, Lifton RP, Khokha MK, Brueckner M. PNAS. 2011 Jan 31. Deniz E, Jonas S, Hooper M, N Griffin J, Choma MA, Khokha MK: Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography. Sci Rep. 2017 Feb 14; 2017 Feb 14. PMID: 28195132 Khokha MK, Mitchell LE, Wallingford JB: An opportunity to address the genetic causes of birth defects. Pediatr Res. 2017 Feb; 2016 Nov 3. PMID: 27925620 Khokha MK, Mitchell LE, Wallingford JB: White paper on the study of birth defects. Birth Defects Res. 2017 Jan 30; 2017 Jan 27. PMID: 28398650 Robson A, Owens ND, Baserga SJ, Khokha MK, Griffin JN: Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis. BMC Dev Biol. 2016 Oct 26; 2016 Oct 26. PMID: 27784267 Sencan I, Huang BK, Bian Y, Mis E, Khokha MK, Cao H, Choma M: Ultrahigh-speed, phase-sensitive full-field interferometric confocal microscopy for quantitative microscale physiology. Biomed Opt Express. 2016 Nov 1; 2016 Oct 20. PMID: 27896006 Bazzini AA, Del Viso F, Moreno-Mateos MA, Johnstone TG, Vejnar CE, Qin Y, Yao J, Khokha MK, Giraldez AJ: Codon identity regulates mRNA stability and translation efficiency during the maternal-to-zygotic transition. EMBO J. 2016 Oct 4; 2016 Jul 19. PMID: 27436874 Del Viso F, Huang F, Myers J, Chalfant M, Zhang Y, Reza N, Bewersdorf J, Lusk CP, Khokha MK: Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia. Dev Cell. 2016 Sep 12; 2016 Sep 1. PMID: 27593162 Forouzmand E, Owens ND, Blitz IL, Paraiso KD, Khokha MK, Gilchrist MJ, Xie X, Cho KW: Developmentally regulated long non-coding RNAs in Xenopus tropicalis. Dev Biol. 2016 Jul 12; 2016 Jul 12. PMID: 27418388 Zhou KC, Huang BK, Gamm UA, Bhandari V, Khokha MK, Choma MA: Erratum: Particle streak velocimetry-optical coherence tomography: a novel method for multidimensional imaging of microscale fluid flows: erratum. Biomed Opt Express. 2016 Jun 1; 2016 May 23. PMID: 27375950 Zhou KC, Huang BK, Gamm UA, Bhandari V, Khokha MK, Choma MA: Particle streak velocimetry-optical coherence tomography: a novel method for multidimensional imaging of microscale fluid flows. Biomed Opt Express. 2016 Apr 1; 2016 Mar 30. PMID: 27375926 Duncan AR, Khokha MK: Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy. Semin Cell Dev Biol. 2016 Mar; 2016 Feb 22. PMID: 26910255 Owens ND, Blitz IL, Lane MA, Patrushev I, Overton JD, Gilchrist MJ, Cho KW, Khokha MK: Measuring Absolute RNA Copy Numbers at High Temporal Resolution Reveals Transcriptome Kinetics in Development. Cell Rep. 2016 Jan 26; 2016 Jan 7. PMID: 26774488 Reza N, Khokha MK, Del Viso F: Nucleoporin gene expression in Xenopus tropicalis embryonic development. Int J Dev Biol. 2016. PMID: 27389988 Bhattacharya D, Marfo CA, Li D, Lane M, Khokha MK: CRISPR/Cas9: An inexpensive, efficient loss of function tool to screen human disease genes in Xenopus. Dev Biol. 2015 Dec 15; 2015 Nov 4. PMID: 26546975 Endicott SJ, Basu B, Khokha M, Brueckner M: The NIMA-like kinase Nek2 is a key switch balancing cilia biogenesis and resorption in the development of left-right asymmetry. Development. 2015 Dec 1; 2015 Oct 22. PMID: 26493400 Moreno-Mateos MA, Vejnar CE, Beaudoin JD, Fernandez JP, Mis EK, Khokha MK, Giraldez AJ: CRISPRscan: designing highly efficient sgRNAs for CRISPR-Cas9 targeting in vivo. Nat Methods. 2015 Oct; 2015 Aug 31. PMID: 26322839 Huang BK, Gamm UA, Bhandari V, Khokha MK, Choma MA: Three-dimensional, three-vector-component velocimetry of cilia-driven fluid flow using correlation-based approaches in optical coherence tomography. Biomed Opt Express. 2015 Sep 1; 2015 Aug 24. PMID: 26417520