Literature DB >> 3169744

Linkage analysis in X-linked ichthyosis (steroid sulfatase deficiency).

B Wirth1, F H Herrmann, M Neugebauer, E F Gillard, K Wulff, C Stein, K von Figura, M A Ferguson-Smith, A Gal.   

Abstract

Linkage analysis has been carried out in nine unrelated families segregating for X-linked ichthyosis (steroid sulfatase deficiency) using seven polymorphic DNA markers from the distal Xp. Close linkage was found between the disease locus and the loci DXS16, DXS89, and DXS143. In all families except one, Southern hybridization with the human steroid sulfatase cDNA and GMGX9 probes showed a deletion of corresponding loci in affected males. Three patients belonging to the same family had no evident deletion with either of the two above-mentioned probes. None of the other six DNA loci included in the linkage analysis were found to be deleted.

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Year:  1988        PMID： 3169744     DOI： 10.1007/bf00702868

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  13 in total

1.  Probabilistic classification of hemophilia A carriers by discriminant analysis.

Authors:  R C Elston; J B Graham; C H Miller; H M Reisner; B N Bouma
Journal:  Thromb Res       Date:  1976-05       Impact factor: 3.944

2.  Report of the committee on the genetic constitution of the X and Y chromosomes.

Authors:  K E Davies; J L Mandel; J Weissenbach; M Fellous
Journal:  Cytogenet Cell Genet       Date:  1987

3.  Genetic heterogeneity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase.

Authors:  J T Conary; G Lorkowski; B Schmidt; R Pohlmann; G Nagel; H E Meyer; C Krentler; J Cully; A Hasilik; K von Figura
Journal:  Biochem Biophys Res Commun       Date:  1987-04-29       Impact factor: 3.575

4.  Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange.

Authors:  P H Yen; E Allen; B Marsh; T Mohandas; N Wang; R T Taggart; L J Shapiro
Journal:  Cell       Date:  1987-05-22       Impact factor: 41.582

5.  X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

Authors:  A Gal; J Mücke; H Theile; P F Wieacker; H H Ropers; T F Wienker
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

6.  Arylsulphatase C activity in leukocytes of patients and carriers of X-linked ichthyosis.

Authors:  F H Herrmann; U Grimm; J Hadlich
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

7.  Multipoint linkage analysis of steroid sulfatase (X-linked ichthyosis) and distal Xp markers.

Authors:  J R Yates; D R Goudie; E F Gillard; D A Aitken; N A Affara; J F Clayton; P A Tippett; M A Ferguson-Smith
Journal:  Genomics       Date:  1987-09       Impact factor: 5.736

8.  Regional assignment of the gene locus for steroid sulfatase.

Authors:  C R Müller; A Westerveld; B Migl; W Franke; H H Ropers
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

9.  Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency).

Authors:  E F Gillard; N A Affara; J R Yates; D R Goudie; J Lambert; D A Aitken; M A Ferguson-Smith
Journal:  Nucleic Acids Res       Date:  1987-05-26       Impact factor: 16.971

10.  Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis.

Authors:  J M Bonifas; B J Morley; R E Oakey; Y W Kan; E H Epstein
Journal:  Proc Natl Acad Sci U S A       Date:  1987-12       Impact factor: 11.205
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  10 in total

Review 1.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M R Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

2.  Heterozygous expression of X-linked chondrodysplasia punctata. Complex chromosome aberration including deletion of MIC2 and STS.

Authors:  D Wöhrle; G Barbi; W Schulz; P Steinbach
Journal:  Hum Genet       Date:  1990-12       Impact factor: 4.132

Review 3.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

4.  An NcoI restriction fragment length polymorphism at the human steroid sulphatase gene locus.

Authors:  P M van Zandvoort; C A van Bennekom; H H Ropers; B A van Oost
Journal:  Hum Genet       Date:  1990-04       Impact factor: 4.132

5.  An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.

Authors:  R E Schnur; B J Trask; G van den Engh; H H Punnett; M Kistenmacher; M A Tomeo; R E Naids; R L Nussbaum
Journal:  Am J Hum Genet       Date:  1989-11       Impact factor: 11.025

6.  Biochemical and immunological characterization of X-linked ichthyosis.

Authors:  X Fan; L Petruschka; K Wulff; U Grimm; F H Herrmann
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

7.  Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.

Authors:  E Basler; M Grompe; G Parenti; J Yates; A Ballabio
Journal:  Am J Hum Genet       Date:  1992-03       Impact factor: 11.025

8.  Gene diagnosis in X-linked ichthyosis.

Authors:  F H Herrmann; B Wirth; K Wulff; J Hadlich; M Voss; E F Gillard; T A Kruse; M A Ferguson-Smith; A Gal
Journal:  Arch Dermatol Res       Date:  1989       Impact factor: 3.017

9.  EMSY expression affects multiple components of the skin barrier with relevance to atopic dermatitis.

Authors:  Martina S Elias; Sheila C Wright; Judit Remenyi; James C Abbott; Susan E Bray; Christian Cole; Sharon Edwards; Marek Gierlinski; Mateusz Glok; John A McGrath; William V Nicholson; Lavinia Paternoster; Alan R Prescott; Sara Ten Have; Phillip D Whitfield; Angus I Lamond; Sara J Brown
Journal:  J Allergy Clin Immunol       Date:  2019-05-31       Impact factor: 10.793

Review 10.  The Regulation of Steroid Action by Sulfation and Desulfation.

Authors:  Jonathan W Mueller; Lorna C Gilligan; Jan Idkowiak; Wiebke Arlt; Paul A Foster
Journal:  Endocr Rev       Date:  2015-07-27       Impact factor: 19.871
  10 in total

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