Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31 (Q37201319)

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29 January 2020

title

Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31 (English)

1 reference

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29 January 2020

1 reference

S Amer Riazuddin

1

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29 January 2020

Laleh Amiri-Kordestani

2

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29 January 2020

Haiba Kaul

3

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29 January 2020

Tariq Butt

4

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29 January 2020

Xiaodong Jiao

5

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29 January 2020

Sheikh Riazuddin

6

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29 January 2020

J Fielding Hejtmancik

7

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29 January 2020

publication date

22 May 2009

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29 January 2020

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29 January 2020

volume

15

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29 January 2020

page(s)

1050-1056

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The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

29 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685889

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685889

Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685889

BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685889

LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685889

Easy calculations of lod scores and genetic risks on small computers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685889

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685889

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685889

A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685889

Avoiding recomputation in linkage analysis.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685889

Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia; a genetic and clinical investigation

3 September 2018

1 reference

12 December 2020

The ER function BiP is a master regulator of ER function

1 reference

12 December 2020

Congenital ocular blindness in children, 1945 to 1984

1 reference

12 December 2020

Molecular genetics of cataract

1 reference

12 December 2020

SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases

1 reference

12 December 2020

Identifiers

1 reference

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29 January 2020

PubMed publication ID

19471582

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