Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

The role of vimentin in the tumor marker Nup88-dependent multinucleated phenotype

(2018) Masaki Makise et al.   BMC CANCER

Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence

(2017) Lore Winters et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Structure and Function of the Nuclear Pore Complex Cytoplasmic mRNA Export Platform

(2016) Javier Fernandez-Martinez et al.   CELL

Nuclear pore protein NUP88 activates anaphase-promoting complex to promote aneuploidy

(2016) Ryan M. Naylor et al.   JOURNAL OF CLINICAL INVESTIGATION

The MPI bioinformatics Toolkit as an integrative platform for advanced protein sequence and structure analysis

(2016) Vikram Alva et al.   NUCLEIC ACIDS RESEARCH

Structural basis for assembly and function of the Nup82 complex in the nuclear pore scaffold

(2015) Monika Gaik et al.   JOURNAL OF CELL BIOLOGY

Failure of lysosome clustering and positioning in the juxtanuclear region in cells deficient in rapsyn

(2015) M. Aittaleb et al.   JOURNAL OF CELL SCIENCE

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

(2015) Andrew G Engel et al.   LANCET NEUROLOGY

Nucleoporin 62-Like Protein Activates Canonical Wnt Signaling through Facilitating the Nuclear Import of β-Catenin in Zebrafish

(2015) Xiaojie Yang et al.   MOLECULAR AND CELLULAR BIOLOGY

The I-TASSER Suite: protein structure and function prediction

(2015) Jianyi Yang et al.   NATURE METHODS

The Phyre2 web portal for protein modeling, prediction and analysis

(2015) Lawrence A Kelley et al.   Nature Protocols

JPred4: a protein secondary structure prediction server

(2015) Alexey Drozdetskiy et al.   NUCLEIC ACIDS RESEARCH

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence

(2014) M Brigita Tan-Sindhunata et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Pathology provides clarity in the next-generation sequencing era

(2014) Gianina Ravenscroft   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Multi-allelic phenotyping – A systematic approach for the simultaneous analysis of multiple induced mutations

(2013) Christopher M. Dooley et al.   METHODS

A systematic genome-wide analysis of zebrafish protein-coding gene function

(2013) Ross N. W. Kettleborough et al.   NATURE

A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization

(2012) L.-E. Jao et al.   DEVELOPMENT

Molecular Basis for the Anchoring of Proto-Oncoprotein Nup98 to the Cytoplasmic Face of the Nuclear Pore Complex

(2012) Tobias Stuwe et al.   JOURNAL OF MOLECULAR BIOLOGY

Template-based protein structure modeling using the RaptorX web server

(2012) Morten Källberg et al.   Nature Protocols

Identification of housekeeping genes suitable for gene expression analysis in the zebrafish

(2011) Raffaella Casadei et al.   GENE EXPRESSION PATTERNS

Fetal akinesia: review of the genetics of the neuromuscular causes

(2011) G. Ravenscroft et al.   JOURNAL OF MEDICAL GENETICS

The nucleoporin Nup88 is interacting with nuclear lamin A

(2011) Yvonne C. Lussi et al.   MOLECULAR BIOLOGY OF THE CELL

HHblits: lightning-fast iterative protein sequence searching by HMM-HMM alignment

(2011) Michael Remmert et al.   NATURE METHODS

Structural and functional analysis of an essential nucleoporin heterotrimer on the cytoplasmic face of the nuclear pore complex

(2011) K. Yoshida et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Raptorx: Exploiting structure information for protein alignment by statistical inference

(2011) Jian Peng et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Role of a novel zebrafish nup98 during embryonic development

(2010) Tsz-Kan Fung et al.   EXPERIMENTAL HEMATOLOGY

I-TASSER: a unified platform for automated protein structure and function prediction

(2010) Ambrish Roy et al.   Nature Protocols

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Part and the Whole: functions of nucleoporins in nucleocytoplasmic transport

(2010) Sarah Wälde et al.   TRENDS IN CELL BIOLOGY

Pena-Shokeir phenotype (Fetal akinesia deformation sequence) revisited

(2009) Judith G. Hall   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Germline mutation in DOK7 associated with fetal akinesia deformation sequence

(2009) J Vogt et al.   JOURNAL OF MEDICAL GENETICS

Fast and accurate automatic structure prediction with HHpred

(2009) Andrea Hildebrand et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

(2008) Anne Michalk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients

(2008) Julie Vogt et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Tumor marker nucleoporin 88kDa regulates nucleocytoplasmic transport of NF-κB

(2008) Nozomi Takahashi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

I-TASSER server for protein 3D structure prediction

(2008) Yang Zhang   BMC BIOINFORMATICS

Embryonic motor activity and implications for regulating motoneuron axonal pathfinding in zebrafish

(2008) Evdokia Menelaou et al.   EUROPEAN JOURNAL OF NEUROSCIENCE