@article {638,
	title = {A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.},
	journal = {Nat Commun},
	volume = {8},
	year = {2017},
	month = {2017 07 06},
	pages = {16077},
	abstract = {<p>Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), is a well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick, and zebrafish. Here, we report that autosomal recessive mutations in MYMK (OMIM 615345) cause Carey-Fineman-Ziter syndrome in humans (CFZS; OMIM 254940) by reducing but not eliminating MYMK function. We characterize MYMK-CFZS as a congenital myopathy with marked facial weakness and additional clinical and pathologic features that distinguish it from other congenital neuromuscular syndromes. We show that a heterologous cell fusion assay in vitro and allelic complementation experiments in mymk knockdown and mymk zebrafish in vivo can differentiate between MYMK wild type, hypomorphic and null alleles. Collectively, these data establish that MYMK activity is necessary for normal muscle development and maintenance in humans, and expand the spectrum of congenital myopathies to include cell-cell fusion deficits.</p>},
	keywords = {Adult, Amino Acid Sequence, Animals, Cell Fusion, Child, Disease Models, Animal, Embryo, Nonmammalian, Female, Gene Expression, Genes, Recessive, Genetic Complementation Test, Humans, Infant, Male, Membrane Proteins, Mobius Syndrome, Morphogenesis, Muscle Proteins, Muscle, Skeletal, Muscular Diseases, Mutation, Myoblasts, Pedigree, Pierre Robin Syndrome, Sequence Alignment, Sequence Homology, Amino Acid, Zebrafish, Zebrafish Proteins},
	issn = {2041-1723},
	doi = {10.1038/ncomms16077},
	author = {Di Gioia, Silvio Alessandro and Connors, Samantha and Matsunami, Norisada and Cannavino, Jessica and Rose, Matthew F and Gilette, Nicole M and Artoni, Pietro and de Macena Sobreira, Nara Lygia and Chan, Wai-Man and Webb, Bryn D and Robson, Caroline D and Cheng, Long and Van Ryzin, Carol and Ramirez-Martinez, Andres and Mohassel, Payam and Leppert, Mark and Scholand, Mary Beth and Grunseich, Christopher and Ferreira, Carlos R and Hartman, Tyler and Hayes, Ian M and Morgan, Tim and Markie, David M and Fagiolini, Michela and Swift, Amy and Chines, Peter S and Speck-Martins, Carlos E and Collins, Francis S and Jabs, Ethylin Wang and B{\"o}nnemann, Carsten G and Olson, Eric N and Carey, John C and Robertson, Stephen P and Manoli, Irini and Engle, Elizabeth C}
}
@article {56,
	title = {Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.},
	journal = {Am J Hum Genet},
	volume = {98},
	year = {2016},
	month = {2016 06 02},
	pages = {1082-1091},
	abstract = {<p>Nonsyndromic patent ductus arteriosus (PDA) is a common congenital heart defect (CHD) with both inherited and acquired causes, but the disease mechanisms have remained elusive. Using combined genome-wide linkage analysis and whole-exome sequencing (WES), we identified independent mutations in PRDM6, which encodes a nuclear protein that is specific to vascular smooth muscle cells (VSMC), has histone methyl transferase activities, and acts as a transcriptional suppressor of contractile proteins. In~vitro assays showed that the mutations cause loss of function either by intracellular redistribution of the protein and/or by alteration of its methyltransferase activities. Wild-type embryonic ductus arteriosus (DA) exhibited high levels of PRDM6, which rapidly declined postnatally as the number of VSMCs necessary for ductus contraction increased. This dynamic change suggests that PRDM6 plays a key role in maintaining VSMCs in an undifferentiated stage in order to promote their proliferation and that its loss of activity results in premature differentiation and impaired remodeling of the DA. Our findings identify PRDM6 mutations as underlying genetic causes of nonsyndromic isolated PDA in humans and implicates the wild-type protein in epigenetic regulation of ductus remodeling.</p>},
	keywords = {Cell Differentiation, Cells, Cultured, Ductus Arteriosus, Patent, Epigenesis, Genetic, Female, Fluorescent Antibody Technique, Histones, Humans, Immunoblotting, Male, Muscle Proteins, Muscle, Smooth, Vascular, Mutation, Pedigree, Transcription Factors},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2016.03.022},
	author = {Li, Na and Subrahmanyan, Lakshman and Smith, Emily and Yu, Xiaoqing and Zaidi, Samir and Choi, Murim and Mane, Shrikant and Nelson-Williams, Carol and Behjati, Mohaddeseh and Kazemi, Mohammad and Hashemi, Mohammad and Fathzadeh, Mohsen and Narayanan, Anand and Tian, Likun and Montazeri, Farhad and Mani, Mitra and Begleiter, Michael L and Coon, Brian G and Lynch, Henry T and Olson, Eric N and Zhao, Hongyu and Ruland, J{\"u}rgen and Lifton, Richard P and Mani, Arya}
}
