Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility. (Q50076522)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429573%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

title

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility (English)

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15 March 2020

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1

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Jean-Pierre Hugot

34

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Ange-Line Bruel

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15 March 2020

author name string

Ludmila Francescatto

2

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15 March 2020

Perciliz L Tan

3

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Aurélie Bourchany

4

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15 March 2020

Cécile De Leusse

5

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Evelyne Marinier

6

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15 March 2020

Arnaud Blanchard

7

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Patrice Bourgeois

8

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Céline Brochier-Armanet

9

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Arnauld Delarue

11

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15 March 2020

Yannis Duffourd

12

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Emmanuelle Ecochard-Dugelay

13

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Géraldine Hery

14

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Frédéric Huet

15

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15 March 2020

Philippe Gauchez

16

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Emmanuel Gonzales

17

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15 March 2020

Catherine Guettier-Bouttier

18

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15 March 2020

Mina Komuta

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15 March 2020

Caroline Lacoste

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15 March 2020

Raphaelle Maudinas

21

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Karin Mazodier

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Yves Rimet

23

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Jean-Baptiste Rivière

24

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Bertrand Roquelaure

25

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15 March 2020

Sabine Sigaudy

26

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15 March 2020

Xavier Stephenne

27

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Christel Thauvin-Robinet

28

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Julien Thevenon

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Jacques Sarles

30

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Nicolas Levy

31

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Catherine Badens

32

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Olivier Goulet

33

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15 March 2020

Nicholas Katsanis

35

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15 March 2020

Laurence Faivre

36

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15 March 2020

Alexandre Fabre

37

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language of work or name

English

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publication date

8 February 2018

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American Journal of Human Genetics

15 March 2020

published in

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15 March 2020

volume

102

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15 March 2020

page(s)

364-374

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15 March 2020

issue

3

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UNC-45a promotes myosin folding and stress fiber assembly.

15 March 2020

cites work

1 reference

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Prolonged intestinal transit and diarrhea in patients with an activating GUCY2C mutation

29 September 2018

1 reference

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Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis

29 September 2018

1 reference

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MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease

29 September 2018

1 reference

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UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

29 September 2018

1 reference

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UNC-45A Is a Nonmuscle Myosin IIA Chaperone Required for NK Cell Cytotoxicity via Control of Lytic Granule Secretion

29 September 2018

1 reference

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Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction

29 September 2018

1 reference

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Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome

29 September 2018

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Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction

29 September 2018

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CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

29 September 2018

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Disruptive CHD8 mutations define a subtype of autism early in development

29 September 2018

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Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

29 September 2018

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Interpreting human genetic variation with in vivo zebrafish assays

29 September 2018

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Microvilli as markers of disordered apical-membrane trafficking and assembly: bowel and liver.

29 September 2018

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MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease

29 September 2018

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Microgavage of zebrafish larvae

29 September 2018

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SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

29 September 2018

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Differences in presentation and progression between severe FIC1 and BSEP deficiencies

29 September 2018

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ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history

29 September 2018

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29 September 2018

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

29 September 2018

1 reference

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Loss of unc45a precipitates arteriovenous shunting in the aortic arches.

29 September 2018

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Myosin II co-chaperone general cell UNC-45 overexpression is associated with ovarian cancer, rapid proliferation, and motility

29 September 2018

1 reference

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29 September 2018

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Maternal UNC-45 is involved in cytokinesis and colocalizes with non-muscle myosin in the early Caenorhabditis elegans embryo.

29 September 2018

1 reference

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

29 September 2018

1 reference

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Two mammalian UNC-45 isoforms are related to distinct cytoskeletal and muscle-specific functions

29 September 2018

1 reference

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Myosin vb is associated with plasma membrane recycling systems

29 September 2018

1 reference

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29 September 2018

1 reference

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Caenorhabditis elegans UNC-45 is a component of muscle thick filaments and colocalizes with myosin heavy chain B, but not myosin heavy chain A

29 September 2018

1 reference

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unc-45 gene of Caenorhabditis elegans encodes a muscle-specific tetratricopeptide repeat-containing protein

29 September 2018

1 reference

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Unc-45 mutations in Caenorhabditis elegans implicate a CRO1/She4p-like domain in myosin assembly

29 September 2018

1 reference

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The unc-45 gene of Caenorhabditis elegans is an essential muscle-affecting gene with maternal expression

29 September 2018

1 reference

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Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome

29 September 2018

1 reference

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10.1016/J.AJHG.2018.01.009

2 November 2018

Identifiers

DOI

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15 March 2020

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15 March 2020

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