Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

(2015) Darío G. Lupiáñez et al.   CELL

Expanding the Biologist’s Toolkit with CRISPR-Cas9

(2015) Samuel H. Sternberg et al.   MOLECULAR CELL

Increasing the efficiency of homology-directed repair for CRISPR-Cas9-induced precise gene editing in mammalian cells

(2015) Van Trung Chu et al.   NATURE BIOTECHNOLOGY

Leveraging the Power of High Performance Computing for Next Generation Sequencing Data Analysis: Tricks and Twists from a High Throughput Exome Workflow

(2015) Amit Kawalia et al.   PLoS One

All-trans-retinoid acid (ATRA) suppresses chondrogenesis of rat primary hind limb bud mesenchymal cells by downregulating p63 and cartilage-specific molecules

(2014) Yun-guo Wang et al.   ENVIRONMENTAL TOXICOLOGY AND PHARMACOLOGY

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

(2014) Naeimeh Tayebi et al.   Orphanet Journal of Rare Diseases

Characterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3

(2014) Catherine N Leettola et al.   BMC STRUCTURAL BIOLOGY

One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering

(2013) Haoyi Wang et al.   CELL

The Evolution of Lineage-Specific Regulatory Activities in the Human Embryonic Limb

(2013) Justin Cotney et al.   CELL

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

(2013) Muhammad S. Hussain et al.   HUMAN MOLECULAR GENETICS

A Novel Role of Cytosolic Protein Synthesis Inhibition in Aminoglycoside Ototoxicity

(2013) S. P. Francis et al.   JOURNAL OF NEUROSCIENCE

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

The protein kinase MLTK regulates chondrogenesis by inducing the transcription factor Sox6

(2012) T. Suzuki et al.   DEVELOPMENT

Coding exons function as tissue-specific enhancers of nearby genes

(2012) Ramon Y. Birnbaum et al.   GENOME RESEARCH

Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

(2011) Guntram Borck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

p63, a Story of Mice and Men

(2011) Hans Vanbokhoven et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Duplications ofBHLHA9are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

(2011) Eva Klopocki et al.   JOURNAL OF MEDICAL GENETICS

Large-scale analysis of the regulatory architecture of the mouse genome with a transposon-associated sensor

(2011) Sandra Ruf et al.   NATURE GENETICS

A human sterile alpha motif domain polymerizome

(2011) Mary Jane Knight et al.   PROTEIN SCIENCE

The Mechanism of Double-Strand DNA Break Repair by the Nonhomologous DNA End-Joining Pathway

(2010) Michael R. Lieber   Annual Review of Biochemistry

Structure of the dimerization domain of DiGeorge Critical Region 8

(2010) Rachel Senturia et al.   PROTEIN SCIENCE

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ZAK induces MMP-2 activity via JNK/p38 signals and reduces MMP-9 activity by increasing TIMP-1/2 expression in H9c2 cardiomyoblast cells

(2009) Yi-Chang Cheng et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Protein structure prediction on the Web: a case study using the Phyre server

(2009) Lawrence A Kelley et al.   Nature Protocols

Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation

(2008) Sibel Aylin Ugur et al.   HUMAN MOLECULAR GENETICS

Regulation of Enzyme Localization by Polymerization: Polymer Formation by the SAM Domain of Diacylglycerol Kinase δ1

(2008) Bryan T. Harada et al.   STRUCTURE