(Q51774299)

12 April 2018

title

Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. (English)

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12 April 2018

focal segmental glomerulosclerosis

main subject

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based on heuristic

inferred from title

mandibuloacral dysplasia

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4

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author name string

Anil K Agarwal

1

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12 April 2018

Xin J Zhou

2

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Roger K Hall

3

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Agnes Bankier

5

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12 April 2018

Hilde Van Esch

6

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Jean-Pierre Fryns

7

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12 April 2018

Abhimanyu Garg

8

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publication date

1 May 2006

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12 April 2018

Journal of Investigative Medicine

published in

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12 April 2018

volume

54

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issue

4

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12 April 2018

page(s)

208-213

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Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

cites work

1 reference

https://api.crossref.org/works/10.2310%2F6650.2006.05068

Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.

21 January 2018

1 reference

https://api.crossref.org/works/10.2310%2F6650.2006.05068

A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.2310%2F6650.2006.05068

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

21 January 2018

1 reference

https://api.crossref.org/works/10.2310%2F6650.2006.05068

Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.2310%2F6650.2006.05068

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.2310%2F6650.2006.05068

Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.2310%2F6650.2006.05068

A severe case of mandibuloacral dysplasia in a girl

21 January 2018

1 reference

https://api.crossref.org/works/10.2310%2F6650.2006.05068

The CaaX proteases, Afc1p and Rce1p, have overlapping but distinct substrate specificities

21 January 2018

1 reference

https://api.crossref.org/works/10.2310%2F6650.2006.05068

Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.2310%2F6650.2006.05068

TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function

21 January 2018

1 reference

https://api.crossref.org/works/10.2310%2F6650.2006.05068

A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.2310%2F6650.2006.05068

WT1 proteins: functions in growth and differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.2310%2F6650.2006.05068

A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation.

21 January 2018

1 reference

https://api.crossref.org/works/10.2310%2F6650.2006.05068

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.2310%2F6650.2006.05068

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

21 January 2018

1 reference

https://api.crossref.org/works/10.2310%2F6650.2006.05068

Prelamin A endoproteolytic processing in vitro by recombinant Zmpste24

21 January 2018

1 reference

https://api.crossref.org/works/10.2310%2F6650.2006.05068

Proteins that bind A-type lamins: integrating isolated clues

21 January 2018

1 reference

https://api.crossref.org/works/10.2310%2F6650.2006.05068

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.2310%2F6650.2006.05068

Modulation of podocyte phenotype in collapsing glomerulopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.2310%2F6650.2006.05068

21 January 2018

Identifiers

DOI

10.2310/6650.2006.05068

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12 April 2018

PubMed ID

17152860

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12 April 2018