Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy (Q50109066)

25 February 2018

case report

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title

Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy (English)

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25 February 2018

main subject

molecular chaperones

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endoplasmic reticulum

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Tenpei Akita

3

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Mitsuhiro Kato

object named as

Mitsuhiro Kato

2

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author name string

Hiroki Mutoh

1

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25 February 2018

Takuma Shibata

4

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25 February 2018

Hiroyuki Wakamoto

5

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Hiroko Ikeda

6

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Hiroki Kitaura

7

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25 February 2018

Kazushi Aoto

8

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25 February 2018

Mitsuko Nakashima

9

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25 February 2018

Tianying Wang

10

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25 February 2018

Chihiro Ohba

11

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25 February 2018

Satoko Miyatake

12

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25 February 2018

Noriko Miyake

13

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25 February 2018

Akiyoshi Kakita

14

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25 February 2018

Kensuke Miyake

15

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Atsuo Fukuda

16

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25 February 2018

Naomichi Matsumoto

17

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25 February 2018

Hirotomo Saitsu

18

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25 February 2018

language of work or name

English

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publication date

26 January 2018

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25 February 2018

American Journal of Human Genetics

published in

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25 February 2018

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

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8 September 2018

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8 September 2018

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8 September 2018

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8 September 2018

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8 September 2018

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Intracellular TLR4/MD-2 in macrophages senses Gram-negative bacteria and induces a unique set of LPS-dependent genes

8 September 2018

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Folding of Toll-like receptors by the HSP90 paralogue gp96 requires a substrate-specific cochaperone

8 September 2018

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Regulatory molecules required for nucleotide-sensing Toll-like receptors

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A single base mutation in the PRAT4A gene reveals differential interaction of PRAT4A with Toll-like receptors

8 September 2018

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A protein associated with Toll-like receptor (TLR) 4 (PRAT4A) is required for TLR-dependent immune responses

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10.1016/J.AJHG.2018.01.004

2 November 2018

Identifiers

DOI

1 reference

25 February 2018

PMC publication ID

5985471

0 references

1 reference

25 February 2018