From the sideline: Tissue‐specific nucleoporin function in health and disease, an update

Downregulation of NUP93 aggravates hypoxia-induced death of cardiomyocytes in vitro through abnormal regulation of gene transcription

(2023) Lei Pan et al.   ACTA PHARMACOLOGICA SINICA

Primary cilia as dynamic and diverse signalling hubs in development and disease

(2023) Pleasantine Mill et al.   NATURE REVIEWS GENETICS

Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3

(2023) Yan Chen et al.   BMC Nephrology

Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly

(2023) Ethiraj Ravindran et al.   Frontiers in Neurology

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model

(2022) Agnieszka Bierzynska et al.   PEDIATRIC NEPHROLOGY

Nucleoporin-93 reveals a common feature of aggressive breast cancers: robust nucleocytoplasmic transport of transcription factors

(2022) Nishanth Belugali Nataraj et al.   Cell Reports

Nucleoporin107 mediates female sexual differentiation via Dsx

(2022) Tikva Shore et al.   eLife

Nuclear lamins: Structure and function in mechanobiology

(2022) Amir Vahabikashi et al.   APL Bioengineering

Architecture of the cytoplasmic face of the nuclear pore

(2022) Christopher J. Bley et al.   SCIENCE

Collapsing Focal Segmental Glomerulosclerosis in Siblings With Compound Heterozygous Variants in NUP93 Expand the Spectrum of Kidney Phenotypes Associated With Nucleoporin Gene Mutations

(2022) Rachel K. Cason et al.   Frontiers in Pediatrics

Components of the LINC and NPC complexes coordinately target and translocate a virus into the nucleus to promote infection

(2022) Chelsey C. Spriggs et al.   PLoS Pathogens

Steroid-resistant nephrotic syndrome in infants caused by a novel compound heterozygous mutation of the NUP93

(2021) Bo Zhao et al.   MEDICINE

RanBP2/Nup358 enhances miRNA activity by sumoylating Argonautes

(2021) Qingtang Shen et al.   PLoS Genetics

Moonlighting of mitotic regulators in cilium disassembly

(2021) Cenna Doornbos et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Integrity of the short arm of nuclear pore Y-complex is required for mouse embryonic stem cell growth and differentiation

(2021) Alba Gonzalez-Estevez et al.   JOURNAL OF CELL SCIENCE

Acute necrotizing encephalopathy-linked mutations in Nup358 impair interaction of Nup358 with TNRC6/GW182 and miRNA function

(2021) Prachi Deshmukh et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Molecular Pathology of Laminopathies

(2021) Ji-Yeon Shin et al.   Annual Review of Pathology-Mechanisms of Disease

Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes

(2021) Elena J. Tucker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The cellular environment shapes the nuclear pore complex architecture

(2021) Anthony P. Schuller et al.   NATURE

Nuclear pores dilate and constrict in cellulo

(2021) Christian E. Zimmerli et al.   SCIENCE

End‐stage renal disease in a child with focal segmental glomerulosclerosis associated with a homozygous NUP93 variant

(2021) Ratna Acharya et al.   Clinical Case Reports

Differential turnover of Nup188 controls its levels at centrosomes and role in centriole duplication

(2020) Nidhi Vishnoi et al.   JOURNAL OF CELL BIOLOGY

Genetic analysis of Yunnan sudden unexplained death by whole genome sequencing in Southwest of China

(2020) Lan-Jiang Li et al.   Journal of Forensic and Legal Medicine

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

(2020) Alison M. Muir et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular determinants of large cargo transport into the nucleus

(2020) Giulia Paci et al.   eLife

Multiple Forms of Multifunctional Proteins in Health and Disease

(2020) Adriana Espinosa-Cantú et al.   Frontiers in Cell and Developmental Biology

Moonlighting Proteins

(2020) Nadia Singh et al.   Annual Review of Genetics

Structure and unique mechanical aspects of nuclear lamin filaments

(2020) Rafael Tenga et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Nuclear pore complexes in development and tissue homeostasis

(2020) Valeria Guglielmi et al.   DEVELOPMENT

Nucleoporin NUP205 plays a critical role in cilia and congenital disease

(2020) Jonathan Marquez et al.   DEVELOPMENTAL BIOLOGY

The Neuromuscular Junction in Health and Disease: Molecular Mechanisms Governing Synaptic Formation and Homeostasis

(2020) Pedro M. Rodríguez Cruz et al.   Frontiers in Molecular Neuroscience

Cellular signalling by primary cilia in development, organ function and disease

(2019) Zeinab Anvarian et al.   Nature Reviews Nephrology

NUP214 deficiency causes severe encephalopathy and microcephaly in humans

(2019) Hanan E. Shamseldin et al.   HUMAN GENETICS

Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

(2019) Ginevra Zanni et al.   CEREBELLUM

Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome

(2019) Rini Rossanti et al.   JOURNAL OF HUMAN GENETICS

Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy

(2019) Boris Fichtman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microglial activation in an amyotrophic lateral sclerosis-like model caused by Ranbp2 loss and nucleocytoplasmic transport impairment in retinal ganglion neurons

(2019) Kyoung-in Cho et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report

(2019) Ibrahim Sandokji et al.   BMC Nephrology

Bi-Allelic Mutations in NUP205 and NUP210 Are Associated With Abnormal Cardiac Left-Right Patterning

(2019) Weicheng Chen et al.   Circulation-Genomic and Precision Medicine

Understanding protein multifunctionality: from short linear motifs to cellular functions

(2019) Andreas Zanzoni et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Circulatory microRNAs: promising non-invasive prognostic and diagnostic biomarkers for parasitic infections

(2019) Hossein Ghalehnoei et al.   EUROPEAN JOURNAL OF CLINICAL MICROBIOLOGY & INFECTIOUS DISEASES

Nucleoporin insufficiency disrupts a pluripotent regulatory circuit in a pro-arrhythmogenic stem cell line

(2019) Claudia C. Preston et al.   Scientific Reports

A Review of Podocyte Biology

(2018) Puneet Garg   AMERICAN JOURNAL OF NEPHROLOGY

NUP155 insufficiency recalibrates a pluripotent transcriptome with network remodeling of a cardiogenic signaling module

(2018) Claudia C. Preston et al.   BMC Systems Biology

NUP98 Sets the Size-Exclusion Diffusion Limit through the Ciliary Base

(2018) S. Joseph Endicott et al.   CURRENT BIOLOGY

Genetics of neuromuscular fetal akinesia in the genomics era

(2018) Sarah Jane Beecroft et al.   JOURNAL OF MEDICAL GENETICS

Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93

(2018) Martin Bezdíčka et al.   PEDIATRIC NEPHROLOGY

First report of recurrent nephrotic syndrome after kidney transplantation in a patient with NUP93 gene mutations – A case report

(2018) T. Seeman et al.   TRANSPLANTATION PROCEEDINGS

Nuclear Lamins: Thin Filaments with Major Functions

(2018) Rebecca de Leeuw et al.   TRENDS IN CELL BIOLOGY

Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency

(2018) Yu Ren et al.   Molecular Genetics & Genomic Medicine

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

(2018) Daniela A. Braun et al.   JOURNAL OF CLINICAL INVESTIGATION

Multifunctional Proteins: Involvement in Human Diseases and Targets of Current Drugs

(2018) Luis Franco-Serrano et al.   PROTEIN JOURNAL

Nuclear pore heterogeneity influences HIV-1 infection and the antiviral activity of MX2

(2018) Melissa Kane et al.   eLife

Homozygous splicing mutation in NUP13 3 causes Galloway-Mowat syndrome

(2018) Atsushi Fujita et al.   ANNALS OF NEUROLOGY

Moonlighting nuclear pore proteins: tissue-specific nucleoporin function in health and disease

(2018) Ramona Jühlen et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

(2018) Edith Bonnin et al.   PLoS Genetics

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

(2017) Rasim Ozgur Rosti et al.   JOURNAL OF MEDICAL GENETICS

Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children

(2017) Agnes Trautmann et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management

(2017) Agnieszka Bierzynska et al.   KIDNEY INTERNATIONAL

A role for Gle1, a regulator of DEAD-box RNA helicases, at centrosomes and basal bodies

(2017) Li-En Jao et al.   MOLECULAR BIOLOGY OF THE CELL

Genes and molecular pathways underpinning ciliopathies

(2017) Jeremy F. Reiter et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Autosomal Recessive Primary Microcephaly (MCPH): An Update

(2017) Deborah Morris-Rosendahl et al.   NEUROPEDIATRICS

MultitaskProtDB-II: an update of a database of multitasking/moonlighting proteins

(2017) Luís Franco-Serrano et al.   NUCLEIC ACIDS RESEARCH

The functional versatility of the nuclear pore complex proteins

(2017) Mohammed Hezwani et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular DiseaseCLINICAL PERSPECTIVE

(2017) Gloria T. Haskell et al.   Circulation-Cardiovascular Genetics

Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation

(2016) Katharina Sell et al.   BRAIN & DEVELOPMENT

Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia

(2016) Florencia del Viso et al.   DEVELOPMENTAL CELL

Nup358 binds to AGO proteins through its SUMO‐interacting motifs and promotes the association of target mRNA with miRISC

(2016) Manas Ranjan Sahoo et al.   EMBO REPORTS

The Structure Inventory of the Nuclear Pore Complex

(2016) Thomas U. Schwartz   JOURNAL OF MOLECULAR BIOLOGY

Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China

(2016) Liyong Zhang et al.   MAYO CLINIC PROCEEDINGS

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

(2016) Daniela A Braun et al.   NATURE GENETICS

The nuclear pore complex: understanding its function through structural insight

(2016) Martin Beck et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

B-type nuclear lamin and the nuclear pore complex Nup107-160 influences maintenance of the spindle envelope required for cytokinesis inDrosophilamale meiosis

(2016) Daisuke Hayashi et al.   Biology Open

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

(2015) Noriko Miyake et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis

(2015) Ariella Weinberg-Shukron et al.   JOURNAL OF CLINICAL INVESTIGATION

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

(2015) Andrew G Engel et al.   LANCET NEUROLOGY

In situ structural analysis of the human nuclear pore complex

(2015) Alexander von Appen et al.   NATURE

Analysis of the initiation of nuclear pore assembly by ectopically targeting nucleoporins to chromatin

(2015) Michal Schwartz et al.   Nucleus

Analysis of the initiation of nuclear pore assembly by ectopically targeting nucleoporins to chromatin

(2015) Michal Schwartz et al.   Nucleus

Nuclear pore rearrangements and nuclear trafficking in cardiomyocytes from rat and human failing hearts

(2014) Mirna N. Chahine et al.   CARDIOVASCULAR RESEARCH

The Association Between Atrial Fibrillation and Sudden Cardiac Death

(2014) Kyndaron Reinier et al.   JACC-Heart Failure

Nucleoporin Nup188 is required for chromosome alignment in mitosis

(2013) Go Itoh et al.   CANCER SCIENCE

An in vitro assay for entry into cilia reveals unique properties of the soluble diffusion barrier

(2013) David K. Breslow et al.   JOURNAL OF CELL BIOLOGY

Cell type-specific nuclear pores: a case in point for context-dependent stoichiometry of molecular machines

(2013) A. Ori et al.   Molecular Systems Biology

Ring cycle for dilating and constricting the nuclear pore

(2013) S. R. Solmaz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Podocyte-Specific Loss of Cdc42 Leads to Congenital Nephropathy

(2012) R. P. Scott et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

The RanBP2/RanGAP1∗SUMO1/Ubc9 Complex Is a Multisubunit SUMO E3 Ligase

(2012) Andreas Werner et al.   MOLECULAR CELL

A size-exclusion permeability barrier and nucleoporins characterize a ciliary pore complex that regulates transport into cilia

(2012) Hooi Lynn Kee et al.   NATURE CELL BIOLOGY

The mechanics of miRNA-mediated gene silencing: a look under the hood of miRISC

(2012) Marc R Fabian et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Molecular Architecture of the Transport Channel of the Nuclear Pore Complex

(2011) Sozanne R. Solmaz et al.   CELL

Modulation of chromatin position and gene expression by HDAC4 interaction with nucleoporins

(2011) Izhak Kehat et al.   JOURNAL OF CELL BIOLOGY

HIV-1 remodels the nuclear pore complex

(2011) Anne Monette et al.   JOURNAL OF CELL BIOLOGY

Fetal akinesia: review of the genetics of the neuromuscular causes

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

Nuclear transport of baculovirus: Revealing the nuclear pore complex passage

(2011) Shelly Au et al.   JOURNAL OF STRUCTURAL BIOLOGY

Induction of Ran GTP drives ciliogenesis

(2011) Shuling Fan et al.   MOLECULAR BIOLOGY OF THE CELL

The nucleoporin Nup88 is interacting with nuclear lamin A

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

miRNA-mediated deadenylation is orchestrated by GW182 through two conserved motifs that interact with CCR4–NOT

(2011) Marc R Fabian et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

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

The Ran importin system in cilia trafficking

(2011) Shuling Fan et al.   Organogenesis

Distinct association of the nuclear pore protein Nup153 with A- and B-type lamins

(2011) Teiba Al-Haboubi et al.   Nucleus

Heterogeneous ventricular sympathetic innervation, altered β-adrenergic receptor expression, and rhythm instability in mice lacking the p75 neurotrophin receptor

(2010) Christina U. Lorentz et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

The Leukocyte Nuclear Envelope Proteome Varies with Cell Activation and Contains Novel Transmembrane Proteins That Affect Genome Architecture

(2010) Nadia Korfali et al.   MOLECULAR & CELLULAR PROTEOMICS

Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2

(2009) Derek E. Neilson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope

(2009) Barbara Kind et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The transmembrane nucleoporin NDC1 is required for targeting of ALADIN to nuclear pore complexes

(2009) Yusuke Yamazumi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Functional Role of Transcriptional Factor TBX5 in Pre-mRNA Splicing and Holt-Oram Syndrome via Association with SC35

(2009) Chun Fan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structural and functional analysis of the interaction between the nucleoporin Nup214 and the DEAD-box helicase Ddx19

(2009) J. Napetschnig et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutation in Nuclear Pore Component NUP155 Leads to Atrial Fibrillation and Early Sudden Cardiac Death

(2008) Xianqin Zhang et al.   CELL

Holt–Oram Syndrome and Atrial Fibrillation

(2008) Elisabetta Cerbai et al.   CIRCULATION RESEARCH