A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome (Q24627210)

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scientific article published in November 2012

Language	Label	Description	Also known as
English	A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome	scientific article published in November 2012

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scholarly article

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A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome (English)

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based on heuristic

inferred from title

mandibuloacral dysplasia

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based on heuristic

inferred from title

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based on heuristic

inferred from title

Lukasz Kozlowski

3

object named as

Lukasz Kozlowski

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Janusz Bujnicki

4

object named as

Janusz M Bujnicki

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Monika Puzianowska-Kuźnicka

object named as

Monika Puzianowska-Kuznicka

10

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author name string

Mohammad Al-Haggar

1

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Agnieszka Madej-Pilarczyk

2

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Sohier Yahia

5

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Dina Abdel-Hadi

6

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Amany Shams

7

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Nermin Ahmad

8

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Sahar Hamed

9

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language of work or name

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publication date

November 2012

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European Journal of Human Genetics

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20

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11

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1134-40

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Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

7 April 2017

nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

7 April 2017

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

7 April 2017

Predicting deleterious amino acid substitutions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

7 April 2017

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

7 April 2017

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

7 April 2017

The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy

2 references

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7 April 2017

https://api.crossref.org/works/10.1038%2FEJHG.2012.77

7 January 2021

based on heuristic

inferred from DOI database lookup

Structure of the globular tail of nuclear lamin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

7 April 2017

Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

7 April 2017

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

7 April 2017

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

7 April 2017

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

7 April 2017

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

7 April 2017

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

7 April 2017

Human non-synonymous SNPs: server and survey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

7 April 2017

PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

27 September 2017

Laminopathies and lamin-associated signaling pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

27 September 2017

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

27 September 2017

Genotype-phenotype correlations in laminopathies: how does fate translate?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

27 September 2017

Functional annotations improve the predictive score of human disease-related mutations in proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

27 September 2017

The nuclear envelope, a key structure in cellular integrity and gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

27 September 2017

"Laminopathies": a wide spectrum of human diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

27 September 2017

CUPSAT: prediction of protein stability upon point mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

27 September 2017

DiANNA 1.1: an extension of the DiANNA web server for ternary cysteine classification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

27 September 2017

Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

27 September 2017

Nuclear lamins: laminopathies and their role in premature ageing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

27 September 2017

Lamin a truncation in Hutchinson-Gilford progeria.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

27 September 2017

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476705

30 May 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.77

21 January 2018

Mandibuloacral dysplasia type A in childhood.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.77

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.77

21 January 2018

SNPeffect v2.0: a new step in investigating the molecular phenotypic effects of human non-synonymous SNPs.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.77

21 January 2018

Prediction of protein stability changes for single-site mutations using support vector machines

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.77

21 January 2018

De novo LMNA mutations cause a new form of congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.77

21 January 2018

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.77

21 January 2018

Hutchinson-Gilford progeria syndrome: review of the phenotype.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.77

21 January 2018

Néstor-Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.77

21 January 2018

Mandibular hypoplasia in fibrodysplasia ossificans progressiva causing obstructive sleep apnoea with pulmonary hypertension

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.77

21 January 2018

Large-scale prediction of disulphide bridges using kernel methods, two-dimensional recursive neural networks, and weighted graph matching

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.77

21 January 2018

Compound Heterozygosity for Mutations inLMNAin a Patient with a Myopathic and Lipodystrophic Mandibuloacral Dysplasia Type A Phenotype

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.77

21 January 2018

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10.1038/EJHG.2012.77

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