MKLN1 splicing defect in dogs with lethal acrodermatitis

A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy – a case report and review of the genotype–phenotype correlation

(2017) Agnieszka A. Koppolu et al.   FOLIA NEUROPATHOLOGICA

A genome wide association study suggests the association of muskelin with early onset bipolar disorder: Implications for a GABAergic epileptogenic neurogenesis model

(2017) Malik Nassan et al.   JOURNAL OF AFFECTIVE DISORDERS

Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability

(2017) Toshitaka Kawarai et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Interaction between Single Nucleotide Polymorphism and Urinary Sodium, Potassium, and Sodium-Potassium Ratio on the Risk of Hypertension in Korean Adults

(2017) Yeong Park et al.   Nutrients

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The ExAC browser: displaying reference data information from over 60 000 exomes

(2016) Konrad J. Karczewski et al.   NUCLEIC ACIDS RESEARCH

Acrodermatitis enteropathica and other nutritional diseases of the folds (intertriginous areas)

(2015) Nikita Lakdawala et al.   CLINICS IN DERMATOLOGY

The Cdk5 activator P39 specifically links muskelin to myosin II and regulates stress fiber formation and actin organization in lens

(2015) Brajendra K. Tripathi et al.   EXPERIMENTAL CELL RESEARCH

The LisH Motif of Muskelin Is Crucial for Oligomerization and Governs Intracellular Localization

(2015) Carolyn F. Delto et al.   STRUCTURE

Heme-oxygenase-1 implications in cell morphology and the adhesive behavior of prostate cancer cells

(2015) Geraldine Gueron et al.   Oncotarget

DoGSD: the dog and wolf genome SNP database

(2014) Bing Bai et al.   NUCLEIC ACIDS RESEARCH

Molecular Phylogeny of a RING E3 Ubiquitin Ligase, Conserved in Eukaryotic Cells and Dominated by Homologous Components, the Muskelin/RanBPM/CTLH Complex

(2013) Ore Francis et al.   PLoS One

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Characterization of the novel interaction between muskelin and TBX20, a critical cardiogenic transcription factor

(2011) Paige DeBenedittis et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

(2011) H. Li   BIOINFORMATICS

Muskelin Regulates Actin Filament- and Microtubule-Based GABAA Receptor Transport in Neurons

(2011) Frank F. Heisler et al.   NEURON

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

(2010) A. McKenna et al.   GENOME RESEARCH

Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions

(2010) Xingnan Li et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The Lancet

(2010) E.J. Moynahan   NUTRITION REVIEWS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy

(2009) Elena Martoni et al.   HUMAN MUTATION

Novel role of the muskelin–RanBP9 complex as a nucleocytoplasmic mediator of cell morphology regulation

(2008) Manojkumar Valiyaveettil et al.   JOURNAL OF CELL BIOLOGY