Thomas Haaf
University of Würzburg
7 Papers
29 Citations
Thomas Haaf is an academic researcher from University of Würzburg. The author has contributed to research in topics: CpG site & DNA methylation. The author has an hindex of 5, co-authored 7 publications.
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Papers
Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion.
Caroline Lekszas,Ombretta Foresti,Ishier Raote,Daniel Liedtke,Eva-Maria König,Indrajit Nanda,Barbara Vona,Barbara Vona,Peter De Coster,Rita Cauwels,Vivek Malhotra,Thomas Haaf +11 more
TL;DR: The first TANGO1-associated syndrome in humans is reported, where the four homozygously affected sons of a consanguineous family display severe dentinogenesis imperfecta, short stature, various skeletal abnormalities, insulin-dependent diabetes mellitus, sensorineural hearing loss, and mild intellectual disability.
Epigenetic signatures of Werner syndrome occur early in life and are distinct from normal epigenetic aging processes
Anna Maierhofer,Julia Flunkert,Junko Oshima,Junko Oshima,George M. Martin,Martin Poot,Indrajit Nanda,Marcus Dittrich,Tobias Müller,Thomas Haaf +9 more
TL;DR: It is proposed that transcriptional misregulation of downstream genes by the absence of WRN protein contributes to the variable premature aging phenotypes of WS.
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CpG sites with continuously increasing or decreasing methylation from early to late human fetal brain development.
Eberhard Schneider,Marcus Dittrich,Julia Böck,Indrajit Nanda,Tobias Müller,Larissa Seidmann,Tim Tralau,Danuta Galetzka,Nady El Hajj,Thomas Haaf +9 more
TL;DR: The results promote the idea that reduced methylation dynamics during fetal brain development may predispose to autism, and define a subset of dDMPs exhibiting constant methylation changes from early to late pregnancy.
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Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion
Caroline Lekszas,Ombretta Foresti,Ishier Raote,Daniel Liedtke,Eva-Maria König,Indrajit Nanda,Barbara Vona,Peter De Coster,Rita Cauwels,Vivek Malhotra,Thomas Haaf +10 more
TL;DR: The first TANGO1-associated syndrome in humans is reported, which mainly manifests in a collagenopathy and a synonymous substitution that results in exon 8 skipping in most mRNA molecules, ultimately leading to a truncated TanGO1 protein was identified as the disease-causing mutation.
Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report.
Caroline Lekszas,Indrajit Nanda,Barbara Vona,Julia Böck,Farah Ashrafzadeh,Nahid Donyadideh,Farnoosh Ebrahimzadeh,Najmeh Ahangari,Reza Maroofian,Ehsan Ghayoor Karimiani,Thomas Haaf +10 more
TL;DR: This is the first report of a paternally inherited unbalanced translocation between the chromosome 9 and 11 short arms underlying familial BWS.