(Q35860457)

English

A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia

scientific article published in October 1994

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Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia (English)

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

hypercholesterolemia

0 references

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Koivisto UM

1

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Palvimo JJ

2

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Jänne OA

3

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Kontula K

4

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

language of work or name

0 references

publication date

1 October 1994

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Proceedings of the National Academy of Sciences of the United States of America

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

91

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

22

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

10526-10530

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Promoter accessibility within the environment of the MHC is affected in class II-deficient combined immunodeficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

Nuclear protein that binds sterol regulatory element of low density lipoprotein receptor promoter. I. Identification of the protein and delineation of its target nucleotide sequence.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

Cytokine regulation of low density lipoprotein receptor gene transcription in HepG2 cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

Nuclear protein that binds sterol regulatory element of low density lipoprotein receptor promoter. II. Purification and characterization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

A receptor-mediated pathway for cholesterol homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

Increased Sp1 binding mediates erythroid-specific overexpression of a mutated (HPFH) gamma-globulin promoter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

Common low-density lipoprotein receptor mutations in the French Canadian population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

Identification of nucleotides responsible for enhancer activity of sterol regulatory element in low density lipoprotein receptor gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

Synergistic activation of a human promoter in vivo by transcription factor Sp1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

Regulation of the mevalonate pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

A naturally occurring gamma globin gene mutation enhances SP1 binding activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

Protein-DNA interactions in the cAMP responsive promoter region of the murine ornithine decarboxylase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

Recovery from Hemophilia B Leyden: An Androgen-Responsive Element in the Factor IX Promoter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

Importance of growth hormone for the induction of hepatic low density lipoprotein receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

11 July 2018

Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45054

24 September 2018

Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland

1 reference

https://pubmed.ncbi.nlm.nih.gov/7937987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absence of mutations in the promoter region of the low density lipoprotein receptor gene in a large number of familial hypercholesterolaemia patients as revealed by denaturing gradient gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7937987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

19 Receptor-mediated endocytosis of low-density lipoprotein in cultured cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/7937987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three direct repeats and a TATA-like sequence are required for regulated expression of the human low density lipoprotein receptor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7937987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sterol-dependent repression of low density lipoprotein receptor promoter mediated by 16-base pair sequence adjacent to binding site for transcription factor Sp1

1 reference

https://pubmed.ncbi.nlm.nih.gov/7937987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanism of the growth-related activation of the low density lipoprotein receptor pathway

1 reference

https://pubmed.ncbi.nlm.nih.gov/7937987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.91.22.10526

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

1994PNAS...9110526K

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

ResearchGate publication ID

0 references

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