(Q38135356)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24014347%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

title

An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations (English)

1 reference

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microvillus inclusion disease

20 February 2020

main subject

1 reference

2

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20 February 2020

Virginie Ropars

5

1 reference

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20 February 2020

Peter C van den Akker

8

1 reference

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20 February 2020

Sven C D van IJzendoorn

11

object named as

Sven C D van Ijzendoorn

1 reference

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20 February 2020

author name string

K Joeri van der Velde

1

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20 February 2020

Serena Sirigu

4

1 reference

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20 February 2020

Petra C Vinke

6

1 reference

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20 February 2020

Trebor Rengaw

7

1 reference

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20 February 2020

Edmond H H M Rings

9

1 reference

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20 February 2020

Anne Houdusse

10

1 reference

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20 February 2020

Morris A Swertz

3

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20 February 2020

publication date

16 October 2013

1 reference

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20 February 2020

1 reference

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20 February 2020

volume

34

1 reference

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20 February 2020

issue

12

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20 February 2020

page(s)

1597-1605

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Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information

20 February 2020

cites work

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Intracytoplasmic lumina in bladder carcinomas

21 January 2018

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Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation?

21 January 2018

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The impact of consanguinity on neonatal and infant health

21 January 2018

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Shaking the myosin family tree: biochemical kinetics defines four types of myosin motor

21 January 2018

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Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

21 January 2018

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A molecular network for de novo generation of the apical surface and lumen

21 January 2018

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Multiple hepatic adenomas in a child with microvillus inclusion disease

21 January 2018

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Bowel "dissection" in microvillus inclusion disease.

21 January 2018

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Three myosin V structures delineate essential features of chemo-mechanical transduction

21 January 2018

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A structural state of the myosin V motor without bound nucleotide

21 January 2018

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Microvillous inclusion disease: an evolving condition.

21 January 2018

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Microvillus inclusion disease: an inherited defect of brush-border assembly and differentiation

21 January 2018

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

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MYO5B is epigenetically silenced and associated with MET signaling in human gastric cancer

21 January 2018

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Navajo microvillous inclusion disease is due to a mutation in MYO5B.

21 January 2018

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Morpho-functional differentiation in lobular carcinoma of the breast

21 January 2018

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A Rab11A/myosin Vb/Rab11-FIP2 complex frames two late recycling steps of langerin from the ERC to the plasma membrane.

21 January 2018

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Recycling endosomes in apical plasma membrane domain formation and epithelial cell polarity

21 January 2018

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Novel loci involved in platelet function and platelet count identified by a genome-wide study performed in children.

21 January 2018

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Intracytoplasmic lumina in human oviduct epithelium.

21 January 2018

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Microvillous inclusion disease: how to improve the prognosis of a severe congenital enterocyte disorder.

21 January 2018

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Rab11 family interacting protein 2 associates with Myosin Vb and regulates plasma membrane recycling

21 January 2018

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The myosin superfamily at a glance.

21 January 2018

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Using linkage information to weight a genome-wide association of bipolar disorder

21 January 2018

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Muscle cells engage Rab8A and myosin Vb in insulin-dependent GLUT4 translocation

21 January 2018

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Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism

21 January 2018

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Mutation update on the CHD7 gene involved in CHARGE syndrome

21 January 2018

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Cell cycle regulation of myosin-V by calcium/calmodulin-dependent protein kinase II.

21 January 2018

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A Rab11a-Rab8a-Myo5B network promotes stretch-regulated exocytosis in bladder umbrella cells

21 January 2018

1 reference

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Myosin vb is associated with plasma membrane recycling systems

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22440

Involvement of myosin Vb in glutamate receptor trafficking

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22440

Intracellular redirection of plasma membrane trafficking after loss of epithelial cell polarity

21 January 2018

1 reference

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Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

21 January 2018

1 reference

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Myosin-V is a processive actin-based motor

21 January 2018

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Cdc42 coordinates proliferation, polarity, migration, and differentiation of small intestinal epithelial cells in mice

21 January 2018

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Microvillous inclusion disease: report of a case with atypical features

21 January 2018

1 reference

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MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.

21 January 2018

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A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

21 January 2018

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A Role of myosin Vb and Rab11-FIP2 in the aquaporin-2 shuttle

21 January 2018

1 reference

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Diabetes mellitus in microvillus inclusion disease.

21 January 2018

1 reference

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Congenital microvillous atrophy: specific diagnostic features

21 January 2018

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The intracellular lumen: origin, role and implications of a cytoplasmic neostructure

21 January 2018

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Rab GTPase-Myo5B complexes control membrane recycling and epithelial polarization.

21 January 2018

1 reference

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Alternative splicing in class V myosins determines association with Rab10.

21 January 2018

1 reference

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Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.

21 January 2018

1 reference

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Microvillous inclusion disease (microvillous atrophy)

21 January 2018

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Cdc42 and Rab8a are critical for intestinal stem cell division, survival, and differentiation in mice

21 January 2018

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The Rab8 GTPase regulates apical protein localization in intestinal cells

21 January 2018

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Neonatal enteropathies: defining the causes of protracted diarrhea of infancy

21 January 2018

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Nanometer localization of single green fluorescent proteins: evidence that myosin V walks hand-over-hand via telemark configuration

21 January 2018

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Myosin VI rewrites the rules for myosin motors

21 January 2018

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Molecular Genetics Information System (MOLGENIS): alternatives in developing local experimental genomics databases

21 January 2018

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The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button

21 January 2018

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Beyond standardization: dynamic software infrastructures for systems biology

21 January 2018

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Myosin Vb is required for trafficking of the cystic fibrosis transmembrane conductance regulator in Rab11a-specific apical recycling endosomes in polarized human airway epithelial cells

21 January 2018

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Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease

21 January 2018

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The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.

21 January 2018

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Formation of the apical pole of epithelial (Madin-Darby canine kidney) cells: polarity of an apical protein is independent of tight junctions while segregation of a basolateral marker requires cell-cell interactions

21 January 2018

1 reference

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Exocytosis of vacuolar apical compartment (VAC): a cell-cell contact controlled mechanism for the establishment of the apical plasma membrane domain in epithelial cells

21 January 2018

1 reference

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Rab11a and myosin Vb are required for bile canalicular formation in WIF-B9 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22440

Myosin Vb mobilizes recycling endosomes and AMPA receptors for postsynaptic plasticity

21 January 2018

1 reference

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Structural basis of cargo recognitions for class V myosins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22440

A Rab11a-enriched subapical membrane compartment regulates a cytoskeleton-dependent transcytotic pathway in secretory epithelial cells of the lacrimal gland

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22440

Myosin V walks hand-over-hand: single fluorophore imaging with 1.5-nm localization

21 January 2018

1 reference

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MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22440

Microvillus inclusion disease: a genetic defect affecting apical membrane protein traffic in intestinal epithelium

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22440

7 January 2021

Prenatal diagnosis of microvillus inclusion disease

1 reference

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7 January 2021

Intractable diarrhea of infancy with congenital intestinal mucosa abnormalities: outcome of four cases

1 reference

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7 January 2021

Microvillus inclusion disease associated with coarctation of the aorta and bicuspid aortic valve

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22440

7 January 2021

CD10: a valuable tool for the light microscopic diagnosis of microvillous inclusion disease (familial microvillous atrophy)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22440

7 January 2021

Congenital microvillus atrophy in a girl with autosomal dominant hypochondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22440

7 January 2021

Microvillous inclusion disease: ultrastructural variability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22440

7 January 2021

Hypophosphatemic rickets accompanying congenital microvillous atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22440

7 January 2021

Light microscopic diagnosis of microvillus inclusion disease on colorectal specimens using CD10

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22440

7 January 2021

Extraintestinal manifestations in an infant with microvillus inclusion disease: complications or features of the disease?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22440

7 January 2021

Rab11 is a useful tool for the diagnosis of microvillous inclusion disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22440

7 January 2021

A novel actin binding site of myosin required for effective muscle contraction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22440

7 January 2021

Mechanoenzymatic characterization of human myosin Vb

1 reference

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7 January 2021

Microvillous inclusion disease with abundant vermiform, electron-lucent vesicles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22440

7 January 2021

Identifiers

DOI

10.1002/HUMU.22440

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24014347%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

1 reference