Literature DB >> 9246006

A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.

N Ronce, M P Moizard, L Robb, A Toutain, L Villard, C Moraine.   

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Year:  1997        PMID： 9246006      PMCID： PMC1715861          DOI： 10.1016/S0002-9297(07)64297-9

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  22 in total

1.  Identification of point mutations in 41 unrelated patients affected with Menkes disease.

Authors:  Z Tümer; C Lund; J Tolshave; B Vural; T Tønnesen; N Horn
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

2.  Diverse mutations in patients with Menkes disease often lead to exon skipping.

Authors:  S Das; B Levinson; S Whitney; C Vulpe; S Packman; J Gitschier
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025

3.  Isolation of a partial candidate gene for Menkes disease by positional cloning.

Authors:  J F Mercer; J Livingston; B Hall; J A Paynter; C Begy; S Chandrasekharappa; P Lockhart; A Grimes; M Bhave; D Siemieniak
Journal:  Nat Genet       Date:  1993-01       Impact factor: 38.330

4.  Early copper therapy in classic Menkes disease patients with a novel splicing mutation.

Authors:  S G Kaler; N R Buist; C S Holmes; D S Goldstein; R C Miller; W A Gahl
Journal:  Ann Neurol       Date:  1995-12       Impact factor: 10.422

5.  Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.

Authors:  S G Kaler; L K Gallo; V K Proud; A K Percy; Y Mark; N A Segal; D S Goldstein; C S Holmes; W A Gahl
Journal:  Nat Genet       Date:  1994-10       Impact factor: 38.330

6.  Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions.

Authors:  K Petrukhin; S Lutsenko; I Chernov; B M Ross; J H Kaplan; T C Gilliam
Journal:  Hum Mol Genet       Date:  1994-09       Impact factor: 6.150

Review 7.  Occipital horn syndrome: report of a patient and review of the literature.

Authors:  M Tsukahara; K Imaizumi; S Kawai; T Kajii
Journal:  Clin Genet       Date:  1994-01       Impact factor: 4.438

8.  Characterization of the exon structure of the Menkes disease gene using vectorette PCR.

Authors:  Z Tümer; B Vural; T Tønnesen; J Chelly; A P Monaco; N Horn
Journal:  Genomics       Date:  1995-04-10       Impact factor: 5.736

9.  Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

Authors:  S Das; B Levinson; C Vulpe; S Whitney; J Gitschier; S Packman
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

10.  Molecular structure of the Menkes disease gene (ATP7A).

Authors:  H A Dierick; L Ambrosini; J Spencer; T W Glover; J F Mercer
Journal:  Genomics       Date:  1995-08-10       Impact factor: 5.736
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  14 in total

1.  A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.

Authors:  S L Dagenais; A N Adam; J W Innis; T W Glover
Journal:  Am J Hum Genet       Date:  2001-06-26       Impact factor: 11.025

Review 2.  ATP7A-related copper transport diseases-emerging concepts and future trends.

Authors:  Stephen G Kaler
Journal:  Nat Rev Neurol       Date:  2011-01       Impact factor: 42.937

3.  Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.

Authors:  L B Møller; Z Tümer; C Lund; C Petersen; T Cole; R Hanusch; J Seidel; L R Jensen; N Horn
Journal:  Am J Hum Genet       Date:  2000-03-17       Impact factor: 11.025

4.  Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2.

Authors:  B Chen; B Rigat; C Curry; D J Mahuran
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

5.  Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.

Authors:  J Vockley; P K Rogan; B D Anderson; J Willard; R S Seelan; D I Smith; W Liu
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

Review 6.  Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.

Authors:  P de Bie; P Muller; C Wijmenga; L W J Klomp
Journal:  J Med Genet       Date:  2007-08-23       Impact factor: 6.318

Review 7.  Menkes disease: underlying genetic defect and new diagnostic possibilities.

Authors:  Z Tümer; N Horn
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

8.  Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.

Authors:  Anthony Donsante; Jingrong Tang; Sarah C Godwin; Courtney S Holmes; David S Goldstein; Alexander Bassuk; Stephen G Kaler
Journal:  J Med Genet       Date:  2007-05-11       Impact factor: 6.318

9.  A comparison of the mutation spectra of Menkes disease and Wilson disease.

Authors:  Gloria Hsi; Diane W Cox
Journal:  Hum Genet       Date:  2003-10-25       Impact factor: 4.132

10.  Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.

Authors:  V M Park; E K Pivnick
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318
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