T
Thomas Wagner
Researcher at University of Freiburg
Publications - 4
Citations - 1768
Thomas Wagner is an academic researcher from University of Freiburg. The author has contributed to research in topics: Campomelic dysplasia & Sex reversal. The author has an hindex of 4, co-authored 4 publications receiving 1712 citations.
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Journal ArticleDOI
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
Thomas Wagner,J. Wirth,Jobst Meyer,Bernhard Zabel,Marika Held,J. Zimmer,Juan J. Pasantes,Juan J. Pasantes,Franca Dagna Bricarelli,Jürgen Keutel,Elisabeth Hustert,Ulrich Wolf,Niels Tommerup,Werner Schempp,Gerd Scherer +14 more
TL;DR: Inactivating mutations on oneSOX9 allele identified in nontranslocation CMPD1-SRA1 cases point to haploinsufficiency for SOX9 as the cause for both campomelic dysplasia and autosomal XY sex reversal.
Journal ArticleDOI
Mutational Analysis of the SOX9 Gene in Campomelic Dysplasia and Autosomal Sex Reversal: Lack of Genotype/Phenotype Correlations
Jobst Meyer,Peter Südbeck,Marika Held,Thomas Wagner,M. Lienhard Schmitz,Franca Dagna Bricarelli,Ephrem Eggermont,Ursula Friedrich,Oskar A. Haas,Albrecht Kobelt,Jules G. Leroy,Lionel Van Maldergem,Erik Michel,Beate Mitulla,Rudolf A. Pfeiffer,Albert Schinzel,Heinrich Schmidt,Gerd Scherer +17 more
TL;DR: Amino acid substitutions and nonsense mutations are found in patients with and without XY sex reversal, indicating that sex reversal in CD is subject to variable penetrance and instability of the mutant SOX9 protein as demonstrated by Western blotting.
Journal ArticleDOI
Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9.
J. Wirth,Thomas Wagner,Jobst Meyer,Rudolf A. Pfeiffer,Hans-Ulrich Tietze,Werner Schempp,Gerd Scherer +6 more
TL;DR: By using a SOX9 coding sequence polymorphism, expression of bothSOX9 alleles has been demonstrated by the reverse transcriptase polymerase chain reaction in lymphoblastoid cells from one of the translocation cases.
Journal ArticleDOI
A somatic cell hybrid panel for distal 17q: GDIA1 maps to 17q25.3
Thomas Wagner,Niels Tommerup,J. Wirth,Henrik Leffers,J. Zimmer,Elke Back,Jean Weissenbach,Gerd Scherer +7 more
TL;DR: Seven new hybrids with translocation breakpoints spanning the region 17q23-->q25.3 complement the existing somatic cell hybrid panel for the long arm of chromosome 17q, and the locus for GDIA1 was mapped by FISH to 17q 25.3 and fine mapped with the help of the hybrid panel.