Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy (Q46282814)

http://europepmc.org/abstract/PMC/5886230

26 June 2018

title

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy (English)

1 reference

http://europepmc.org/abstract/PMC/5886230

26 June 2018

author

Katherine L Helbig

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Zoe Powis

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Taosheng Huang

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

author name string

Yanyan Peng

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Deepali N Shinde

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

C Alexander Valencia

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jun-Song Mo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jill Rosenfeld

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Megan Truitt Cho

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Adam Chamberlin

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Zhuo Li

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jie Liu

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Baoheng Gui

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Rachel Brockhage

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Alice Basinger

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Brenda Alvarez-Leon

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Peter Heydemann

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Pilar L Magoulas

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Andrea M Lewis

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Fernando Scaglia

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Solange Gril

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Shuk Ching Chong

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Matthew Bower

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Kristin G Monaghan

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Rebecca Willaert

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Maria-Renee Plona

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Rich Dineen

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Francisca Milan

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

George Hoganson

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jennifer Keller-Ramey

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Belinda Harris

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Laura C Anderson

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Torrian Green

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Stacey J Sukoff Rizzo

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Julie Kaylor

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jiani Chen

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Min-Xin Guan

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Elizabeth Sellars

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Steven P Sparagana

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

James B Gibson

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Laura G Reinholdt

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Sha Tang

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

publication date

1 December 2017

1 reference

http://europepmc.org/abstract/PMC/5886230

26 June 2018

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

volume

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

issue

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

page(s)

4937-4950

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

4 June 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5886230/fullTextXML

inferred from PubMed Central ID database lookup

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30 June 2018

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30 June 2018

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30 June 2018

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30 June 2018

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30 June 2018

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30 June 2018

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30 June 2018

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30 June 2018

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Human adrenodoxin reductase: two mRNAs encoded by a single gene on chromosome 17cen----q25 are expressed in steroidogenic tissues

30 June 2018

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Site-specific mutations in human ferredoxin that affect binding to ferredoxin reductase and cytochrome P450scc

30 June 2018

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30 June 2018

1 reference

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Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.

15 August 2018

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Molecular recognition and electron transfer in mitochondrial steroid hydroxylase systems

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Rapid quantification of adult and developing mouse spatial vision using a virtual optomotor system

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29040572

12 December 2020

inferred from PubMed ID database lookup

Interactions between ferredoxin-NADP reductase and ferredoxin at different reduction levels of the two proteins

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29040572

12 December 2020

inferred from PubMed ID database lookup

Levels of DNA and RNA in the carcinomatous tissue of the collum uteri before and after application of Cytembena (author's transl)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29040572

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/HMG/DDX377

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

PubMed publication ID

29040572

1 reference