(Q47444829)

15 June 2018

title

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction (English)

1 reference

15 June 2018

Collaborative Research Centre (CRC) 1002: "Modulatory Units in Heart Failure"

sponsor

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main subject

craniosynostosis

0 references

Solute carrier family 25 member 24

1 reference

cellular response to oxidative stress

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

13

1 reference

15 June 2018

Björn Fischer-Zirnsak

31

1 reference

15 June 2018

Peter Krawitz

Peter M Krawitz

24

0 references

Peter Nürnberg

18

Peter Nürnberg

1 reference

15 June 2018

30

Bernd Wollnik

1 reference

15 June 2018

Stefan Mundlos

27

Stefan Mundlos

1 reference

15 June 2018

Luitgard Graul-Neumann

2

Luitgard Graul-Neumann

1 reference

15 June 2018

Janine Altmüller

15

Janine Altmüller

1 reference

15 June 2018

Holger Thiele

17

Holger Thiele

1 reference

15 June 2018

Denise Horn

25

Denise Horn

1 reference

15 June 2018

author name string

Nadja Ehmke

1

1 reference

15 June 2018

Lukasz Smorag

3

1 reference

15 June 2018

Rainer Koenig

4

1 reference

15 June 2018

Lara Segebrecht

5

1 reference

15 June 2018

Pilar Magoulas

6

1 reference

15 June 2018

Fernando Scaglia

7

1 reference

15 June 2018

Esra Kilic

8

1 reference

15 June 2018

Anna F Hennig

9

1 reference

15 June 2018

Nicolai Adolphs

10

1 reference

15 June 2018

Namrata Saha

11

1 reference

15 June 2018

Beatrix Fauler

12

1 reference

15 June 2018

Friederike Hennig

14

1 reference

15 June 2018

Christian Netzer

16

1 reference

15 June 2018

Gökhan Yigit

19

1 reference

15 June 2018

Marten Jäger

20

1 reference

15 June 2018

Jochen Hecht

21

1 reference

15 June 2018

Ulrike Krüger

22

1 reference

15 June 2018

Thorsten Mielke

23

1 reference

15 June 2018

Markus Schuelke

26

1 reference

15 June 2018

Carlos A Bacino

28

1 reference

15 June 2018

Penelope E Bonnen

29

1 reference

15 June 2018

Uwe Kornak

32

1 reference

15 June 2018

language of work or name

English

0 references

publication date

1 November 2017

1 reference

15 June 2018

American Journal of Human Genetics

published in

1 reference

15 June 2018

volume

101

1 reference

15 June 2018

issue

5

1 reference

15 June 2018

page(s)

833-843

1 reference

15 June 2018

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Calcium regulation of the human mitochondrial ATP-Mg/Pi carrier SLC25A24 uses a locking pin mechanism

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Alpha-synuclein prevents the formation of spherical mitochondria and apoptosis under oxidative stress

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Analysis of protein-coding genetic variation in 60,706 humans

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

A Genetic-Pathophysiological Framework for Craniosynostosis

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Fibroblast growth factor signaling in skeletal development and disease

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Molecular Basis of MgATP Selectivity of the Mitochondrial SCaMC Carrier

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Physiological and pathological roles of the mitochondrial permeability transition pore in the heart

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

SLC25A24 as a novel susceptibility gene for low fat mass in humans and mice

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Jannovar: a java library for exome annotation

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

A self-sequestered calmodulin-like Ca²⁺ sensor of mitochondrial SCaMC carrier and its implication to Ca²⁺-dependent ATP-Mg/P(i) transport

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Mutations in WNT1 cause different forms of bone fragility

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Predicting functional effect of human missense mutations using PolyPhen-2.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

An integrated map of genetic variation from 1,092 human genomes

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

SCaMC-1 promotes cancer cell survival by desensitizing mitochondrial permeability transition via ATP/ADP-mediated matrix Ca(2+) buffering

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

A framework for variation discovery and genotyping using next-generation DNA sequencing data

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Inactivation of the mitochondrial carrier SLC25A25 (ATP-Mg2+/Pi transporter) reduces physical endurance and metabolic efficiency in mice

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Redundant or separate entities?--roles of Twist1 and Twist2 as molecular switches during gene transcription

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

MutationTaster evaluates disease-causing potential of sequence alterations

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Mutations in PYCR1 cause cutis laxa with progeroid features

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Twist-1 is a PPARdelta-inducible, negative-feedback regulator of PGC-1alpha in brown fat metabolism

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Twist1 homodimers enhance FGF responsiveness of the cranial sutures and promote suture closure

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Comparative roles of Twist-1 and Id1 in transcriptional regulation by BMP signaling

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

The Wnt-inducible transcription factor Twist1 inhibits chondrogenesis

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Identification of a novel human subfamily of mitochondrial carriers with calcium-binding domains.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

A twist code determines the onset of osteoblast differentiation

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Mutations of the TWIST gene in the Saethre-Chotzen syndrome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Mechanism and regulation of the mitochondrial ATP-Mg/P(i) carrier

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: confirmation of the Gorlin-Chaudhry-Moss syndrome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

The Ca2+-induced membrane transition in mitochondria. I. The protective mechanisms

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

An etiologic and nosologic overview of craniosynostosis syndromes

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

The Ca2+-induced membrane transition in mitochondria. III. Transitional Ca2+ release

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

The Ca2+-induced membrane transition in mitochondria. II. Nature of the Ca2+ trigger site

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Human iPSC-Derived Neural Progenitors Are an Effective Drug Discovery Model for Neurological mtDNA Disorders.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Two sisters resembling Gorlin-Chaudhry-Moss syndrome.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Gorlin-Chaudhry-Moss or Saethre-Chotzen syndrome?

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Necrotizing soft tissue infection of the scalp after fronto-facial advancement by internal distraction in a 7-year old girl with Gorlin-Chaudhry-Moss syndrome--a case report

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673623

Gorlin-chaudhry-moss syndrome revisited: Expanding the phenotype

14 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29100093

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies-a new syndrome?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29100093

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Somatic Progenitor Cell Vulnerability to Mitochondrial DNA Mutagenesis Underlies Progeroid Phenotypes in Polg Mutator Mice

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29100093

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2017.09.016

1 reference

15 June 2018

PMC publication ID

5673623

1 reference

15 June 2018

PubMed publication ID

29100093

1 reference

15 June 2018