Daniel Konzman
National Institutes of Health
7 Papers
Daniel Konzman is an academic researcher from National Institutes of Health. The author has contributed to research in topics: DNA methylation & Medicine. The author has an hindex of 3, co-authored 4 publications.
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Papers
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
May Christine V. Malicdan,Thierry Vilboux,Joshi Stephen,Dino Maglic,Luhe Mian,Daniel Konzman,Jennifer Guo,Deniz Yildirimli,Joy Bryant,Roxanne Fischer,Wadih M. Zein,Joseph Snow,Meghana Vemulapalli,James C. Mullikin,Camilo Toro,Benjamin D. Solomon,John Niederhuber,Nisc Comparative Sequencing Program,William A. Gahl,Meral Gunay-Aygun +19 more
TL;DR: It is confirmed that KIAA0586/TALPID3 is essential in cilia formation in human beings, expand the KIAa0586 phenotype to include features of Jeune syndrome and provide a pathogenetic connection between Joubert and Jeune syndromes, based on aberrant ciliogenesis.
TMEM231 Gene Conversion Associated with Joubert and Meckel‐Gruber Syndromes in the Same Family
Dino Maglic,Joshi Stephen,May Christine V. Malicdan,Jennifer Guo,Roxanne Fischer,Daniel Konzman,James C. Mullikin,William A. Gahl,Thierry Vilboux,Meral Gunay-Aygun +9 more
TL;DR: In‐depth analysis uncovered a rare gene conversion event in TMEM231, leading to loss of exon 4, in all the affected children of first brother, and it is believed that the combination of this gene conversion with different missense mutations led to a spectrum of phenotypes that span JS and MGS.
17
Activating and repressing gene expression between chromosomes during stochastic fate specification
Elizabeth Urban,Chaim Chernoff,K. V. Layng,Jeong Whan Han,Caitlin Anderson,Daniel Konzman,Robert E. Johnston +6 more
TL;DR: It is found that different enhancers participated in transvection at different times during development to promote gene expression and specify cell fates, with implications for genome organization and architecture.
3
O-GlcNAc transferase plays a non-catalytic role in C. elegans male fertility
TL;DR: It is found that isolated ogt-1 males are less likely to engage in mate-searching, and they initiate mating less often when exposed to mates, and that further investigation in C. elegans may help reveal new functions of the enzyme.