(Q54373301)

28 May 2018

title

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

1 reference

28 May 2018

1 reference

Dar-Shong Lin

1

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28 May 2018

Chun-Yan Yeung

2

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28 May 2018

Hsuan-Liang Liu

3

1 reference

28 May 2018

Che-Sheng Ho

4

1 reference

28 May 2018

Chyong-Hsin Shu

5

1 reference

28 May 2018

Chih-Kuang Chuang

6

1 reference

28 May 2018

Yu-Wen Huang

7

1 reference

28 May 2018

Tsu-Yen Wu

8

1 reference

28 May 2018

Zon-Darr Huang

9

1 reference

28 May 2018

Yuan-Ren Jian

10

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28 May 2018

Shuan-Pei Lin

11

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28 May 2018

language of work or name

English

0 references

publication date

12 May 2011

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28 May 2018

American Journal of Medical Genetics

published in

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28 May 2018

volume

155A

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28 May 2018

issue

6

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28 May 2018

page(s)

1285-1289

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28 May 2018

A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33963

Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33963

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33963

Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33963

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33963

Cutis laxa. Ultrastructural and biochemical studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33963

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33963

Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33963

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33963

The role of mitochondria in apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33963

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33963

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33963

Mitochondrial dynamics and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33963

Bleeding in the heritable connective tissue disorders: mechanisms, diagnosis and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33963

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33963

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33963

Mutations in PYCR1 cause cutis laxa with progeroid features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33963

Positioning mitochondrial plasticity within cellular signaling cascades.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33963

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33963

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.33963

1 reference

28 May 2018

release_3c4e5rrtsvfe3psy5j5pkax7ri

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3c4e5rrtsvfe3psy5j5pkax7ri

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

28 May 2018