Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome (Q28118896)

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Hirotomo Saitsu

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Hirotomo Saitsu

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Kenichi Ohashi

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Kenichi Ohashi

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4 January 2017

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Koji Okudela

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Noriko Miyake

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Hiroyasu Tsukaguchi

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Eriko Koshimizu

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Akemi Shono

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Satoko Matsunaga

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Masaaki Shiina

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Yasuhiro Mimura

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Shintaro Imamura

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Kandai Nozu

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Yuko Akioka

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4 January 2017

Motoshi Hattori

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Norishige Yoshikawa

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Akiko Kitamura

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Hae Il Cheong

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4 January 2017

Shoji Kagami

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4 January 2017

Michiaki Yamashita

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4 January 2017

Atsushi Fujita

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4 January 2017

Satoko Miyatake

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Mitsuko Nakashima

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4 January 2017

Naoko Imamoto

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Akihide Ryo

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4 January 2017

Kazuhiro Ogata

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4 January 2017

Kazumoto Iijima

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4 January 2017

Naomichi Matsumoto

American Journal of Human Genetics

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4 January 2017

language of work or name

English

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publication date

1 October 2015

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4 January 2017

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97

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555–566

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4 January 2017

A conserved biogenesis pathway for nucleoporins: proteolytic processing of a 186-kilodalton precursor generates Nup98 and the novel nucleoporin, Nup96

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

The entire Nup107-160 complex, including three new members, is targeted as one entity to kinetochores in mitosis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Nuclear localization of the protein encoded by the Wilms' tumor gene WT1 in embryonic and adult tissues

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Vertebrate Nup53 interacts with the nuclear lamina and is required for the assembly of a Nup93-containing complex

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Depletion of a single nucleoporin, Nup107, prevents the assembly of a subset of nucleoporins into the nuclear pore complex

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

The nuclear lamina is mechano-responsive to ECM elasticity in mature tissue

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Structural and Functional Studies of Nup107/Nup133 Interaction and Its Implications for the Architecture of the Nuclear Pore Complex

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Structure of a trimeric nucleoporin complex reveals alternate oligomerization states

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Protein structure prediction on the Web: a case study using the Phyre server

20 March 2017

1 reference

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GROMACS: fast, flexible, and free

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Integrated structural analysis of the human nuclear pore complex scaffold

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

De novo SOX11 mutations cause Coffin-Siris syndrome

20 March 2017

1 reference

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Ezrin is essential for epithelial organization and villus morphogenesis in the developing intestine

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Canonical sampling through velocity rescaling

20 March 2017

1 reference

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Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Regulating access to the genome: nucleocytoplasmic transport throughout the cell cycle

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Cellular mechanosensing: getting to the nucleus of it all.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Loss of zygotic NUP107 protein causes missing of pharyngeal skeleton and other tissue defects with impaired nuclear pore function in zebrafish embryos

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

New developments in steroid-resistant nephrotic syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Dissecting the NUP107 complex: multiple components and even more functions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

The structure of the nuclear pore complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

The nuclear pore complex: bridging nuclear transport and gene regulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Depletion of a single nucleoporin, Nup107, induces apoptosis in eukaryotic cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Management of childhood onset nephrotic syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Nuclear pore complex assembly through the cell cycle: regulation and membrane organization

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Development of the renal glomerulus: good neighbors and good fences

29 September 2017

1 reference

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Arabidopsis HY5 protein functions as a DNA-binding tag for purification and functional immobilization of proteins on agarose/DNA microplate

29 September 2017

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Determining the architectures of macromolecular assemblies

29 September 2017

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Methods for high-throughput materialization of genetic information based on wheat germ cell-free expression system

29 September 2017

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Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

Nucleocytoplasmic transport: taking an inventory

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596915

The conserved Nup107-160 complex is critical for nuclear pore complex assembly

29 September 2017

1 reference

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Cell biology of the glomerular podocyte

29 September 2017

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Mechanical stress reduces podocyte proliferation in vitro

29 September 2017

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Progressive renal failure--inability of podocytes to replicate and the consequences for development of glomerulosclerosis

29 September 2017

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The nucleoporin ELYS/Mel28 regulates nuclear envelope subdomain formation in HeLa cells

29 September 2017

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Cell cycle regulation and differentiation in the human podocyte lineage

2 June 2018

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Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

2 June 2018

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27 November 2018

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Long-term outcome of idiopathic steroid-resistant nephrotic syndrome: a multicenter study

27 November 2018

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High incidence of initial and late steroid resistance in childhood nephrotic syndrome

27 November 2018

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Time trends and ethnic patterns of childhood nephrotic syndrome in Yorkshire, UK.

27 November 2018

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Steroid-resistant idiopathic nephrotic syndrome in children: long-term follow-up and risk factors for end-stage renal disease

27 November 2018

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inferred from PubMed ID database lookup

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Podocytes respond to mechanical stress in vitro

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PubMed

https://pubmed.ncbi.nlm.nih.gov/26411495

inferred from PubMed ID database lookup

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based on heuristic

Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA

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PubMed

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