(Q28207758)

Europe PubMed Central

PubMed ID

1301956

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301956

10 September 2022

author name string

M. S. Brown

series ordinal

2

1 reference

Europe PubMed Central

PubMed ID

1301956

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301956

Two mutant low-density-lipoprotein receptors in Afrikaners slowly processed to surface forms exhibiting rapid degradation or functional heterogeneity

10 September 2022

language of work or name

English

0 references

publication date

1992

0 references

published in

Human Mutation

0 references

volume

1

0 references

page(s)

445-66

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issue

6

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

The LDL receptor in familial hypercholesterolemia: use of human mutations to dissect a membrane protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

The Finnish type of the LDL receptor gene mutation: molecular characterization of the deleted gene and the corresponding mRNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Intracellular protein trafficking defects in human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Role of the coated endocytic vesicle in the uptake of receptor-bound low density lipoprotein in human fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

The insulin receptor juxtamembrane region contains two independent tyrosine/beta-turn internalization signals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

The NPXY internalization signal of the LDL receptor adopts a reverse-turn conformation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Lipoprotein lipase enhances the binding of chylomicrons to low density lipoprotein receptor-related protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Clinical studies in a kindred with a kinetic LDL receptor mutation causing familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Sources and evolution of human Alu repeated sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor-bound low density lipoprotein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

A receptor-mediated pathway for cholesterol homeostasis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Low density lipoprotein receptor-related protein/alpha 2-macroglobulin receptor is an hepatic receptor for tissue-type plasminogen activator

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

The CpG dinucleotide and human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Acid-dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region

1 reference

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7 January 2021

Protein folding in the cell

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Coated pits, coated vesicles, and receptor-mediated endocytosis

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Receptor-mediated endocytosis: concepts emerging from the LDL receptor system

1 reference

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7 January 2021

Regulation of the mevalonate pathway

1 reference

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7 January 2021

A new LDL receptor gene deletion mutation in the South African population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Surface location and high affinity for calcium of a 500-kd liver membrane protein closely related to the LDL-receptor suggest a physiological role as lipoprotein receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

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

1 reference

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7 January 2021

Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Insertion and/or deletion of many repeated DNA sequences in human and higher ape evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Repetitive sequences in eukaryotic DNA and their expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

New variant of low density lipoprotein receptor gene. FH-Tonami

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Novel gene mutations at the low density lipoprotein receptor locus: FH-Kanazawa and FH-Okayama

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Mutations altering the structure of epidermal growth factor-like coding sequences at the Drosophila Notch locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Defective processing and binding of low-density lipoprotein receptors in fibroblasts from a familial hypercholesterolaemic subject

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

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://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Evidence that the newly cloned low-density-lipoprotein receptor related protein (LRP) is the alpha 2-macroglobulin receptor.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Alternative Dideoxy Sequencing of Double-Stranded DNA by Cyclic Reactions Using Taq Polymerase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Recurrent mutation at aa 792 in the LDL receptor gene in a French patient.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Cellular and molecular biology of lipoprotein metabolism: characterization of lipoprotein receptor-ligand interactions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Homozygous familial hypercholesterolemia among French Canadians in Québec Province

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Structure and distribution of an Alu-type deletion mutation in Sandhoff disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Familial hypercholesterolemia with "normal" cholesterol in obligate heterozygotes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Complexes of tissue-type plasminogen activator and its serpin inhibitor plasminogen-activator inhibitor type 1 are internalized by means of the low density lipoprotein receptor-related protein/alpha 2-macroglobulin receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Autoimmune target in Heymann nephritis is a glycoprotein with homology to the LDL receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Specific EGF repeats of Notch mediate interactions with Delta and serrate: Implications for notch as a multifunctional receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Repetitive sequences involved in the recombination leading to deletion of exon 5 of the low-density-lipoprotein receptor gene in a patient with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Prevalence of familial hypercholesterolemia in Johannesburg Jews

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Elevated cholesterol and bile acid synthesis in an adult patient with homozygous familial hypercholesterolemia. Reduction by a high glucose diet

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

The LDL receptor gene: a mosaic of exons shared with different proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Rabbit very low density lipoprotein receptor: a low density lipoprotein receptor-like protein with distinct ligand specificity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

A study of familial hypercholesterolaemia in Iceland using RFLPs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients and the presence of a common 4 kb deletion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

beta zero thalassemia in Sardinia is caused by a nonsense mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Coinheritance of two mild defects in low density lipoprotein receptor function produces severe hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical areas.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

The structure of an endocytosis signal

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Deletion in cysteine-rich region of LDL receptor impedes transport to cell surface in WHHL rabbit

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010602

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380010602

1 reference

Consolidated OpenCitations Corpus – April 2017

2224404

2224404

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference