(Q56965885)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24035636%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

title

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa (English)

1 reference

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21 February 2020

1 reference

1 reference

Björn Fischer-Zirnsak

2

1 reference

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21 February 2020

Marco Castori

10

1 reference

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21 February 2020

Katta Mohan Girisha

15

1 reference

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21 February 2020

Katherine L Lachlan

16

1 reference

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21 February 2020

Shubha R Phadke

18

1 reference

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21 February 2020

Madhulika Kabra

21

1 reference

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21 February 2020

30

Bernd Wollnik

1 reference

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21 February 2020

27

Stefan Mundlos

1 reference

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21 February 2020

author name string

Aikaterini Dimopoulou

1

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21 February 2020

Thatjana Gardeitchik

3

1 reference

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21 February 2020

Phillipe Schröter

4

1 reference

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21 February 2020

Hülya Kayserili

5

1 reference

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21 February 2020

Claire Schlack

6

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21 February 2020

Yun Li

7

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21 February 2020

Jaime Moritz Brum

8

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21 February 2020

Ingeborg Barisic

9

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21 February 2020

Christiane Spaich

11

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21 February 2020

Elaine Fletcher

12

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21 February 2020

Zeina Mahayri

13

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21 February 2020

Meenakshi Bhat

14

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21 February 2020

Diana Johnson

17

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21 February 2020

Neerja Gupta

19

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21 February 2020

Martina Simandlova

20

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21 February 2020

Albert David

22

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21 February 2020

Leo Nijtmans

23

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21 February 2020

David Chitayat

24

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21 February 2020

Beyhan Tuysuz

25

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21 February 2020

Francesco Brancati

26

1 reference

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21 February 2020

Lionel Van Maldergem

28

1 reference

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21 February 2020

Eva Morava

29

1 reference

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21 February 2020

Uwe Kornak

31

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21 February 2020

language of work or name

English

0 references

publication date

24 August 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24035636%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

21 February 2020

published in

1 reference

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21 February 2020

volume

110

1 reference

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21 February 2020

issue

3

1 reference

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21 February 2020

page(s)

352-361

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

21 February 2020

cites work

1 reference

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

7 January 2021

1 reference

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

7 January 2021

1 reference

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

7 January 2021

1 reference

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

7 January 2021

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

7 January 2021

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

7 January 2021

1 reference

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

7 January 2021

1 reference

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Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

7 January 2021

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

7 January 2021

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Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type.

7 January 2021

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Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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De Barsy syndrome and ATP6V0A2-CDG

7 January 2021

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Mutations in PYCR1 cause cutis laxa with progeroid features

7 January 2021

1 reference

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

7 January 2021

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The metabolism of proline as microenvironmental stress substrate

7 January 2021

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Crystal structure of human pyrroline-5-carboxylate reductase

7 January 2021

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MutationTaster evaluates disease-causing potential of sequence alterations

7 January 2021

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The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

7 January 2021

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

7 January 2021

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Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.

7 January 2021

1 reference

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Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome

7 January 2021

1 reference

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

7 January 2021

1 reference

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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A case of de Barsy syndrome with a severe eye phenotype

7 January 2021

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Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2.

7 January 2021

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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

7 January 2021

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Cutis laxa type II with mutation in the pyrroline-5-carboxylate reductase 1 gene.

7 January 2021

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Photo essay--geroderma osteodysplastica.

7 January 2021

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Autosomal recessive cutis laxa syndrome revisited

7 January 2021

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Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability

7 January 2021

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10.1016/J.YMGME.2013.08.009

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24035636%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference