(Q28115510)

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

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PubMed publication ID

3 January 2017

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

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PubMed publication ID

3 January 2017

Aldehyde dehydrogenase 18 family member A1

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GOA release 2020-03-11

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based on heuristic

inferred from title

26

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Lihadh Al-Gazali

23

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Tomasz Zemojtel

object named as

Tomasz Zemojtel

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Björn Fischer-Zirnsak

1

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Björn Fischer-Zirnsak

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David Meierhofer

object named as

David Meierhofer

24

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Bert Callewaert

object named as

Bert Callewaert

32

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Graham D Wright

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Graham D. Wright

11

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Nathalie Escande-Beillard

2

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3 January 2017

Jaya Ganesh

3

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3 January 2017

Yu Xuan Tan

4

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3 January 2017

Mohammed Al Bughaili

5

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3 January 2017

Angela E. Lin

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3 January 2017

Inderneel Sahai

7

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3 January 2017

Paulina Bahena

8

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3 January 2017

Sara L. Reichert

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3 January 2017

Abigail Loh

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3 January 2017

Jaron Liu

12

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3 January 2017

Elisa Rahikkala

13

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3 January 2017

Eniko K. Pivnick

14

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Asim F. Choudhri

15

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3 January 2017

Ulrike Krüger

16

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3 January 2017

Conny van Ravenswaaij-Arts

18

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3 January 2017

Roya Mostafavi

19

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3 January 2017

Irene Stolte-Dijkstra

20

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3 January 2017

Sofie Symoens

21

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3 January 2017

Leila Pajunen

22

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3 January 2017

Peter N. Robinson

25

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3 January 2017

Camilo E. Villarroel

27

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3 January 2017

Peter Byers

28

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Amira Masri

29

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Stephen P. Robertson

30

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3 January 2017

Ulrike Schwarze

31

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3 January 2017

Bruno Reversade

33

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3 January 2017

Uwe Kornak

34

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3 January 2017

language of work or name

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publication date

3 September 2015

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3 January 2017

American Journal of Human Genetics

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3 January 2017

97

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3 January 2017

3

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3 January 2017

483–492

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PubMed publication ID

3 January 2017

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

20 March 2017

Mutations in PYCR1 cause cutis laxa with progeroid features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

20 March 2017

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

20 March 2017

Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

20 March 2017

Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

20 March 2017

Autosomal recessive cutis laxa syndrome revisited

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

20 March 2017

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

20 March 2017

The IntAct molecular interaction database in 2012

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

20 March 2017

A novel two-domain architecture within the amino acid kinase enzyme family revealed by the crystal structure of Escherichia coli glutamate 5-kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

20 March 2017

Fiji: an open-source platform for biological-image analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

6 April 2017

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

20 March 2017

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

20 March 2017

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

20 March 2017

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

29 September 2017

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

29 September 2017

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

29 September 2017

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

29 September 2017

Processing of mitochondrial presequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

29 September 2017

Metabolic cutis laxa syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

29 September 2017

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

29 September 2017

Identification of lysine succinylation as a new post-translational modification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

29 September 2017

Pyrroline-5-carboxylate synthase and proline biosynthesis: from osmotolerance to rare metabolic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

29 September 2017

Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

29 September 2017

RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

29 September 2017

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

29 September 2017

The metabolism of proline as microenvironmental stress substrate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

29 September 2017

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

29 September 2017

Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

29 September 2017

New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

29 September 2017

GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

2 June 2018

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

2 June 2018

De Barsy syndrome--an autosomal recessive, progeroid syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

2 June 2018

Metabolome and proteome profiling of complex I deficiency induced by rotenone.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

27 November 2018

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

27 November 2018

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

27 November 2018

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

27 November 2018

A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

27 November 2018

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

27 November 2018

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

27 November 2018

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564990

27 November 2018

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

1 reference

https://pubmed.ncbi.nlm.nih.gov/26320891

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dwarfism, oligophrenia and degeneration of the elastic tissue in skin and cornea. A new syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/26320891

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2

1 reference

https://pubmed.ncbi.nlm.nih.gov/26320891

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

1 reference

https://pubmed.ncbi.nlm.nih.gov/26320891

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An Autosomal-Recessive Form of Cutis Laxa Is Due to Homozygous Elastin Mutations, and the Phenotype May Be Modified by a Heterozygous Fibulin 5 Polymorphism

1 reference

https://pubmed.ncbi.nlm.nih.gov/26320891

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/26320891

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking

1 reference

https://pubmed.ncbi.nlm.nih.gov/26320891

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2015.08.001

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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