(Q24540034)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9915949%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

title

Rhmod syndrome: a family study of the translation-initiator mutation in the Rh50 glycoprotein gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9915949%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

2

1 reference

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9 December 2019

author name string

C Huang

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9915949%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

M E Reid

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9915949%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Y Chen

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9915949%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

language of work or name

English

0 references

publication date

1 January 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9915949%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

9 December 2019

published in

1 reference

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9 December 2019

volume

64

1 reference

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9 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9915949%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

page(s)

108-117

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9915949%20AND%20SRC:MED&resulttype=core&format=json

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

9 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

cDNA cloning of a 30 kDa erythrocyte membrane protein associated with Rh (Rhesus)-blood-group-antigen expression

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Molecular cloning and protein structure of a human blood group Rh polypeptide

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Molecular cloning and primary structure of the human blood group RhD polypeptide

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Isolation of cDNA clones for a 50 kDa glycoprotein of the human erythrocyte membrane associated with Rh (rhesus) blood-group antigen expression

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Rh50 glycoprotein gene and rhnull disease: a silent splice donor is trans to a Gly279-->Glu missense mutation in the conserved transmembrane segment

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Identification of 5' flanking sequence of RH50 gene and the core region for erythroid-specific expression

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

A novel single missense mutation identified along the RH50 gene in a composite heterozygous Rhnull blood donor of the regulator type

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

The human Rh50 glycoprotein gene. Structural organization and associated splicing defect resulting in Rh(null) disease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Alteration of RH gene structure and expression in human dCCee and DCW-red blood cells: phenotypic homozygosity versus genotypic heterozygosity

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Candidate gene acting as a suppressor of the RH locus in most cases of Rh-deficiency

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Molecular biology of the Rh antigens

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Strength of translation initiation signal sequence of mRNA as studied by quantification method: effect of nucleotide substitutions upon translation efficiency in rat preproinsulin mRNA.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Molecular definition of red cell Rh haplotypes by tightly linked SphI RFLPs.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Molecular cloning of RhD cDNA derived from a gene present in RhD-positive, but not RhD-negative individuals

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Biochemical aspects of the blood group Rh (rhesus) antigens

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

An unlinked modifier of Rh blood groups: effects when heterozygous and when homozygous

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Hematological aspect of Rh deficiency syndrome: a case report and a review of the literature

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

The structure and insertion of integral proteins in membranes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Regulator genes affecting red cell antigens

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

1 Biochemistry and molecular genetics of Rh antigens

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Molecular insights into the Rh protein family and associated antigens

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Rhnull disease: the amorph type results from a novel double mutation in RhCe gene on D-negative background

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Evolution of the human RH (rhesus) blood group genes: a 50 year old prediction (partially) fulfilled

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Decreased resistance to bacterial infection and granulocyte defects in IAP-deficient mice.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

A sample of blood with no detectable Rh antigens

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Characterization of the gene encoding the human LW blood group protein in LW+ and LW- phenotypes.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377708

Murine monoclonal antibody MB-2D10 recognizes Rh-related glycoproteins in the human red cell membrane

29 November 2018

1 reference

12 December 2020

DNA analysis in the diagnosis of hemoglobin disorders

1 reference

12 December 2020

The beta- and delta-thalassemia repository (eighth edition)

1 reference

12 December 2020

Topology and organization of human Rh (rhesus) blood group-related polypeptides

1 reference

12 December 2020

Rhmod, a second kindred (Craig)

1 reference

12 December 2020

A human monoclonal anti-D antibody which detects a nonconformation-dependent epitope on the RhD protein by immunoblot

1 reference

12 December 2020

Beta-spectrin Promiss-ao: a translation initiation codon mutation of the beta-spectrin gene (ATG --> GTG) associated with hereditary spherocytosis and spectrin deficiency in a Brazilian family

1 reference

12 December 2020

A splicing mutation of the RHAG gene associated with the Rhnull phenotype

1 reference

12 December 2020

Identifiers

DOI

10.1086/302215

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9915949%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9915949%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

PubMed publication ID

9915949

1 reference