Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

Congenital microcephaly

(2014) Diana Alcantara et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease

(2014) F. Payne et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

(2013) Michael N Weedon et al.   NATURE GENETICS

SUMO ligase activity of vertebrate Mms21/Nse2 is required for efficient DNA repair but not for Smc5/6 complex stability

(2012) Maciej Kliszczak et al.   DNA REPAIR

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

(2012) Marjorie J Lindhurst et al.   NATURE GENETICS

SMC5 and MMS21 are required for chromosome cohesion and mitotic progression

(2011) Susanne Behlke-Steinert et al.   CELL CYCLE

Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes

(2011) Isabel Huang-Doran et al.   DIABETES

Genetic Syndromes of Severe Insulin Resistance

(2011) Robert K. Semple et al.   ENDOCRINE REVIEWS

Mechanisms and pathways of growth failure in primordial dwarfism

(2011) A. Klingseisen et al.   GENES & DEVELOPMENT

Small Ubiquitin-related Modifier Ligase Activity of Mms21 Is Required for Maintenance of Chromosome Integrity during the Unperturbed Mitotic Cell Division Cycle inSaccharomyces cerevisiae

(2011) Ragini Rai et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Severe Short Stature Caused by Novel Compound Heterozygous Mutations of the Insulin-Like Growth Factor 1 Receptor (IGF1R)

(2011) Peng Fang et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Variation in genome-wide mutation rates within and between human families

(2011) Donald F Conrad et al.   NATURE GENETICS

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Dindel: Accurate indel calls from short-read data

(2010) C. A. Albers et al.   GENOME RESEARCH

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Condensin and cohesin complexity: the expanding repertoire of functions

(2010) Andrew J. Wood et al.   NATURE REVIEWS GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The unnamed complex: what do we know about Smc5-Smc6?

(2009) Giacomo De Piccoli et al.   CHROMOSOME RESEARCH

Smc5/6 maintains stalled replication forks in a recombination-competent conformation

(2009) Anja Irmisch et al.   EMBO JOURNAL

Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis

(2009) Robert K. Semple et al.   JOURNAL OF CLINICAL INVESTIGATION

Smc5-Smc6-Dependent Removal of Cohesin from Mitotic Chromosomes

(2009) E. A. Outwin et al.   MOLECULAR AND CELLULAR BIOLOGY

Structural and Functional Insights into the Roles of the Mms21 Subunit of the Smc5/6 Complex

(2009) Xinyuan Duan et al.   MOLECULAR CELL

Positive and Negative Regulation of Insulin Signaling by Reactive Oxygen and Nitrogen Species

(2009) Nava Bashan et al.   PHYSIOLOGICAL REVIEWS