(Q45959611)

English

An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency.

scientific article published on 20 June 2009

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19544009

An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency. (English)

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19544009

author name string

M Arenas

1

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19544009

L D Fairbanks

2

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19544009

K Vijayakumar

3

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19544009

L Carr

4

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19544009

E Escuredo

5

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19544009

A M Marinaki

6

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19544009

publication date

20 June 2009

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19544009

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19544009

32

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19544009

4

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19544009

560-569

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19544009

https://scigraph.springernature.com/pub.10.1007/s10545-009-1151-7

0 references

The ITPA c.94C>A and g.IVS2+21A>C sequence variants contribute to missplicing of the ITPA gene

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1151-7

21 January 2018

Functionality of alternative splice forms of the first enzymes involved in human molybdenum cofactor biosynthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the molybdenum cofactor biosynthetic genesMOCS1, MOCS2, andGEPH

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

hnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading frames

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intricate combinatorial patterns of exon splicing generate multiple regulated troponin T isoforms from a single gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A U6 snRNA:pre-mRNA interaction can be rate-limiting for U1-independent splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molybdenum cofactor deficiency-phenotypic variability in a family with a late-onset variant.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic determinants of the thiopurine methyltransferase intermediate activity phenotype in British Asians and Caucasians

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improved splice site detection in Genie

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Joining the dots: production, processing and targeting of U snRNP to nuclear bodies

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Crystal structure of the S-adenosylmethionine-dependent enzyme MoaA and its implications for molybdenum cofactor deficiency in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molybdenum cofactor biosynthesis and molybdenum enzymes

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molybdenum cofactor biosynthesis in humans: identification of a persulfide group in the rhodanese-like domain of MOCS3 by mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primer3 on the WWW for general users and for biologist programmers

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A quantitative polymerase chain reaction method for determining copy number within the Prader-Willi/Angelman syndrome critical region

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Building specificity with nonspecific RNA-binding proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/19544009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10545-009-1151-7

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19544009

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19544009

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