Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

Obscurin is a semi-flexible molecule in solution

(2019) Jacob A. Whitley et al.   PROTEIN SCIENCE

Structure before function: myosin binding protein-C slow is a structural protein with regulatory properties

(2018) Janelle Geist et al.   FASEB JOURNAL

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

(2018) Vandana Shashi et al.   GENETICS IN MEDICINE

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

(2017) Daniela Rossi et al.   PLoS One

Expanding theMYBPC1phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita

(2016) N. Ekhilevitch et al.   CLINICAL GENETICS

MYBPC1, an Emerging Myopathic Gene: What We Know and What We Need to Learn

(2016) Janelle Geist et al.   Frontiers in Physiology

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

(2015) Xiaolin Zhu et al.   GENETICS IN MEDICINE

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

Genetic Abnormalities in a Calf with Congenital Increased Muscular Tonus

(2015) N. Wiedemar et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

The Phyre2 web portal for protein modeling, prediction and analysis

(2015) Lawrence A Kelley et al.   Nature Protocols

Two Novel Mutations in Myosin Binding Protein C Slow Causing Distal Arthrogryposis Type 2 in Two Large Han Chinese Families May Suggest Important Functional Role of Immunoglobulin Domain C2

(2015) Xuefu Li et al.   PLoS One

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles

(2014) Judith G. Hall   European Journal of Medical Genetics

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow

(2013) Maegen A. Ackermann et al.   FASEB JOURNAL

MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis

(2013) Kyungsoo Ha et al.   HUMAN MOLECULAR GENETICS

De novo mutations in histone-modifying genes in congenital heart disease

(2013) Samir Zaidi et al.   NATURE

Myosin binding protein-C slow: a multifaceted family of proteins with a complex expression profile in fast and slow twitch skeletal muscles

(2013) Maegen A. Ackermann et al.   Frontiers in Physiology

Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1

(2012) Barak Markus et al.   HUMAN MUTATION

Structural Insight into Unique Cardiac Myosin-binding Protein-C Motif

(2012) Jack W. Howarth et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Myosin Binding Protein-C Slow is a Novel Substrate for Protein Kinase A (PKA) and C (PKC) in Skeletal Muscle

(2011) Maegen A. Ackermann et al.   JOURNAL OF PROTEOME RESEARCH

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

(2010) Christina A. Gurnett et al.   HUMAN MOLECULAR GENETICS

Myosin Binding Protein-C Slow: An Intricate Subfamily of Proteins

(2010) Maegen A. Ackermann et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Arthrogryposis: A Review and Update

(2009) Michael Bamshad et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME

A novel platform for biologically active recombinant human interleukin-13 production

(2008) David J. Wang et al.   PLANT BIOTECHNOLOGY JOURNAL