Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa (Q28115510)

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

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scholarly article

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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

object named as

Björn Fischer-Zirnsak

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David Meierhofer

object named as

David Meierhofer

24

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Bert Callewaert

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Bert Callewaert

32

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Graham D Wright

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Graham D. Wright

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author name string

Nathalie Escande-Beillard

2

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3 January 2017

Jaya Ganesh

3

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3 January 2017

Yu Xuan Tan

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3 January 2017

Mohammed Al Bughaili

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Angela E. Lin

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Inderneel Sahai

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Paulina Bahena

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Sara L. Reichert

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Abigail Loh

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Jaron Liu

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Elisa Rahikkala

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Eniko K. Pivnick

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Asim F. Choudhri

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Ulrike Krüger

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3 January 2017

Conny van Ravenswaaij-Arts

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3 January 2017

Roya Mostafavi

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Irene Stolte-Dijkstra

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Sofie Symoens

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Leila Pajunen

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Peter N. Robinson

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Camilo E. Villarroel

27

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Peter Byers

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Amira Masri

29

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Stephen P. Robertson

30

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Ulrike Schwarze

31

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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

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3 January 2017

483–492

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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

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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

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20 March 2017

The IntAct molecular interaction database in 2012

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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

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20 March 2017

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

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6 April 2017

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

1 reference

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20 March 2017

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

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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

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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

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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

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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

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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.

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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.

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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

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27 November 2018

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

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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

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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

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Consolidated OpenCitations Corpus – April 2017

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OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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